Scientific References

Latest FSHD (FSH dystrophy) Scientific references: (PUBMED 9/12/2014)

Fields Center Publications

The Fields Center strives to provide researchers with the most comprehensive and up to date listing of FSHD scientific references. For a list of scientific publications of research produced by Fields Center invesitgators click on this link.


Comprehensive list of published references on FSHD (FSH dysrophy):

FSHD PhD Thesis from Leiden University Medical Center

REVIEW ARTICLES

  • Salort-Campana E, Nguyen K, Lévy N, Pouget J, Attarian S. Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012].Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):573-82. doi: 10.1016/j.neurol.2013.07.001. Epub 2013 Sep 4. French. PMID: 24011979
  • Sacconi S, Desnuelle C..Facioscapulohumeral muscular dystrophy type 2]. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):564-72. doi: 10.1016/j.neurol.2013.02.004. Epub 2013 Aug 20. French. PMID: 23969240

  • Tawil R, Shaw DW, van der Maarel SM, Tapscott SJ.. Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access: 8-9 April 2013, Leiden, The Netherlands.Neuromuscul Disord. 2013 Aug 2. doi:pii: S0960-8966(13)00929-2. 10.1016/j.nmd.2013.07.009.

  • Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC.. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev. 2013 Jul 9;7:CD003907. doi: 10.1002/14651858.CD003907.pub4.

    PMID: 23835682 [PubMed - in process]
  • Hayashi YK, Goto K, Nishio I. Rinsho Shinkeigaku. Recent advances in facioscapulohumeral muscular dystrophy.2012;52(11):1154-7. PMID: 23196547 [PubMed - in process]
  • van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol. 2012 Aug 16. [Epub ahead of print] PMID: 22892954 [PubMed - as supplied by publisher]
  • Sakellariou P, Kekou K, Fryssira H, Sofocleous C, Manta P, Panousopoulou A, Gounaris K, Kanavakis E. Mutation spectrum and phenotypic manifestation in FSHD Greek patients. Neuromuscul Disord. 2012 Feb 20. [Epub ahead of print] PMID: 22357364 [PubMed - as supplied by publisher]
  • Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet. 2011 Oct 9. [Epub ahead of print]
  • Statland JM, Tawil R. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol. 2011 Jul 2. [Epub ahead of print] PMID: 21734574 [PubMed - as supplied by publisher]
  • Jordan B, Müller-Reible C, Zierz S. Facioscapulohumeral muscular dystrophy : Clinical picture, atypical forms, diagnostics, genetics. Nervenarzt. 2011 May 14. [Epub ahead of print] German. PMID: 21567298 [PubMed - as supplied by publisher]
  • Orrell RW. Facioscapulohumeral dystrophy and scapuloperoneal syndromes. Handb Clin Neurol. 2011;101:167-80.
  • Fitzsimons RB.Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? Neuromuscul Disord. 2011 Apr;21(4):263-71. Epub 2011 Mar 4.
  • Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. van der Maarel SM, Tawil R, Tapscott SJ. Trends Mol Med. 2011 Jan 31. [Epub ahead of print] PMID: 21288772 [PubMed - as supplied by publisher]
  • Cabianca DS, Gabellini D. The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy. J Cell Biol. 2010 Dec 13;191(6):1049-60. PMID: 21149563 [PubMed - in process] 
  • Wilbers J, Frants RR, van Engelen BG, Padberg GW, van der Maarel SM. [Facioscapulohumeral muscular dystrophy]. Ned Tijdschr Tandheelkd. 2010 Jan;117(1):11-4. Review. Dutch. PMID: 20180344 [PubMed - indexed for MEDLINE] Claustres M. Epigenetics in facioscapulohumeral muscular dystrophy (FSHD). Hum Mutat. 2009 Sep 28;30(10):v. [Epub ahead of print] No abstract available. PMID: 19787630 [PubMed - as supplied by publisher]
  • Dmitriev P, Lipinski M, Vassetzky YS. Pearls in the junk: Dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2008 Oct 28; [Epub ahead of print]
  • Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics. 2008; 5(4):601-6.
  • de Greef JC, Frants RR, van der Maarel SM. Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat Res. 2008 Aug 3. [Epub ahead of print]
  • Pandya S, King WM, Tawil R. Facioscapulohumeral dystrophy. Phys Ther. 2008 Jan;88(1):105-13.
  • van der Maarel SM, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2007 Feb;1772(2):186-94.
  • Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006 Jul;34(1):1-15.
  • Tupler R, Gabellini D. Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol Life Sci. 2004 Mar;61(5):557-66.
  • Tawil R. Facioscapulohumeral muscular dystrophy. Curr Neurol Neurosci Rep. 2004 Jan;4(1):51-4.
  • Dorobek M. Facio-scapula-humeral muscular dystrophy: clinical picture and molecular genetics. Neurol Neurochir Pol. 2003 Jan-Feb;37(1):151-9.
  • Kissel JT. Facioscapulohumeral dystrophy. Semin Neurol. 1999;19(1):35-43.
  • Funakoshi M, Goto K, Kim BY, Arahata K. Facioscapulohumeral muscular dystrophy (FSHD). Nippon Rinsho. 1997 Dec;55(12):3181-5.
  • Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol. 1998 Mar;43(3):279-82.
  • Fisher J, Upadhyaya M. Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord. 1997 Jan;7(1):55-62.
  • Altherr MR, Bengtsson U, Markovich RP, Winokur ST. Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy. Muscle Nerve. 1995;2:S32-8.
  • Brouwer OF, Wijmenga C, Frants RR, Padberg GW. Facioscapulohumeral muscular dystrophy: the impact of genetic research. Clin Neurol Neurosurg. 1993 Mar;95(1):9-21.

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CLINICAL MANIFESTATIONS

  • Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain. 2013 Sep 11.[Epub ahead of print] PMID: 24030947.

     

  • Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM. The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1. Am J Hum Genet. 2013 Sep 25. doi:pii: S0002-9297(13)00379-0. 10.1016/j.ajhg.2013.08.004. PMID: 24075187
  • Darras BT, Tawil R. Predicting hearing loss in facioscapulohumeral muscular dystrophy.  Neurology. 2013 Sep 16. [Epub ahead of print]. PMID: 24042094.
  • Lutz KL, Holte L, Kliethermes SA, Stephan C, Mathews KD. Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 2013 Sep 16. [Epub ahead of print]. PMID: 24042093.
  • Schreiber O, Schneiderat P, Kress W, Rautenstrauss B, Senderek J, Schoser B, Walter MC. Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes. BMC Med Genet. 2013 Sep 16;14(1):92. PMID: 24041033.
  • Risk of functional impairment in facioscapulohumeral muscular dystrophy. Statland JM, Tawil R. Muscle Nerve. 2013 Jul 19. doi: 10.1002/mus.23949. [Epub ahead of print] PMID: 23873337 [PubMed - as supplied by publisher]
  • Friedman SD, Poliachik SL, Otto RK, Carter GT, Budech CB, Bird TD, Miller DG, Shaw DW. Longitudinal Features of Stir Bright Signal in FSHD. Muscle Nerve. 2013 May 29. doi: 10.1002/mus.23911. [Epub ahead of print] PMID: 23720194 [PubMed - as supplied by publisher]
  • Dorobek M, Szmidt-Salkowska E, Rowinska-Marcinska K, Gawel M, Hausmanowa-Petrusewicz I. Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy. Neurol Neurochir Pol. 2013;47(1):8-17. PMID: 23487289 [PubMed - as supplied by publisher]
  • Statland JM, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R. Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size.Neurology. 2013 Feb 27. [Epub ahead of print] PMID: 23446679 [PubMed - as supplied by publisher]
  • Chen TH, Lai YH, Lee PL, Hsu JH, Goto K, Hayashi YK, Nishino I, Lin CW, Shih HH, Huang CC, Liang WC, Wang WF, Jong YJ. Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment. Neuromuscul Disord. 2013 Feb 20. doi:pii: S0960-8966(13)00011-4. 10.1016/j.nmd.2013.01.005. [Epub ahead of print] PMID: 23434070 [PubMed - as supplied by publisher]
  • Statland JM, McDermott MP, Heatwole C, Martens WB, Pandya S, van der Kooi EL, Kissel JT, Wagner KR, Tawil R. Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2013 Feb 11. doi:pii: S0960-8966(13)00033-3. 10.1016/j.nmd.2013.01.008. [Epub ahead of print] PMID: 23406877 [PubMed - as supplied by publisher]
  • Della Marca G, Frusciante R, Vollono C, Iannaccone E, Dittoni S, Losurdo A, Testani E, Gnoni V, Colicchio S, Di Blasi C, Erra C, Mazza S, Ricci E. Pain and the Alpha-Sleep Anomaly: A Mechanism of Sleep Disruption in Facioscapulohumeral Muscular Dystrophy. Pain Med. 2013 Feb 6. doi: 10.1111/pme.12054. [Epub ahead of print] PMID: 23387524 [PubMed - as supplied by publisher]
  • Johnson NE, Quinn C, Eastwood E, Tawil R, Heatwole CR. Patient-identified disease burden in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2012 Dec;46(6):948-50. doi: 10.1002/mus.23529. PMID: 23225386 [PubMed - in process]
  • Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S. Teaching NeuroImages: unilateral arm and contralateral leg amyotrophy in FSHD: unusual presentation. Neurology. 2012 Jul 31;79(5):e46. doi: 10.1212/WNL.0b013e3182617125. No abstract available. Neurology. 2012 Jul 31;79(5):e46. doi: 10.1212/WNL.0b013e3182617125. No abstract available.
  • Ricci G, Scionti I, Alì G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G. Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. Neuromuscul Disord. 2012 Jun;22(6):534-40. Epub 2012 Jan 14. PMID: 22245016 [PubMed - indexed for MEDLINE] Free PMC Article
  • Hassan A, Jones LK, Milone M, Kumar N. Focal and other unusual presentations of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2012 Sep;46(3):421-5. doi: 10.1002/mus.23358. PMID: 22907234 [PubMed - in process]
  • Aprile I, Padua L, Iosa M, Gilardi A, Bordieri C, Frusciante R, Russo G, Erra C, De Santis F, Ricci E. Balance and walking in facioscapulohumeral muscular dystrophy: multiperspective assessment. Eur J Phys Rehabil Med. 2012 Jun 20. [Epub ahead of print] PMID: 22713540 [PubMed - as supplied by publisher]
  • Ganesh A, Kaliki S, Shields CL. Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy. J AAPOS. 2012 Apr;16(2):204-6. PMID: 22525183 [PubMed - indexed for MEDLINE]
  • Olckers A, van der Merwe A, Wayne Towers G, Retief CF, Honey E, Schutte CM. Compound heterozygosity in a South African patient with Facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2012 May 29. [Epub ahead of print] PMID: 22652079 [PubMed - as supplied by publisher]
  • Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BG, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM. Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics. 2012 Jun 1;7(6). [Epub ahead of print] PMID: 22522912 [PubMed - as supplied by publisher]
  • Friedman SD, Poliachik SL, Carter GT, Budech CB, Bird TD, Shaw DW. The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2012 Apr;45(4):500-6. doi: 10.1002/mus.22342. PMID: 22431082 [PubMed - in process]
  • Wang CH, Leung M, Liang WC, Hsieh TJ, Chen TH, Jong YJ. Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2011 Dec 7. [Epub ahead of print] PMID: 22153988 [PubMed - as supplied by publisher]
  • Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT 3rd; The Registry Scientific Advisory Committee. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials. 2011 Nov 26. [Epub ahead of print] PMID: 22155025 [PubMed - as supplied by publisher]
  • Pastorello E, Cao M, Trevisan CP. Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy. Clin Neurol Neurosurg. 2011 Nov 11. [Epub ahead of print] PMID: 22079131 [PubMed - as supplied by publisher]  
  • Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.J Med Genet. 2011 Oct 7. [Epub ahead of print] PMID: 21984748 [PubMed - as supplied by publisher]
  • Ramos VF, Thaisetthawatkul P. A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 year. Age Ageing. 2011 Jul 27. [Epub ahead of print]
  • Grosso S, Mostardini R, Di Bartolo RM, Balestri P, Verrotti A. Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy. Eur J Paediatr Neurol. 2011 Sep;15(5):456-60. Epub 2011 Jul 16. 
  • Sun CY, van Koningsbruggen S, Long SW, Straasheijm K, Klooster R, Jones TI, Bellini M, Levesque L, Brieher WM, van der Maarel SM, Jones PL. Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein. J Mol Biol. 2011 Aug 12;411(2):397-416. Epub 2011 Jun 15.
  • Nieto R, Raichle KA, Jensen MP, Miró J. Changes in Pain-Related Beliefs, Coping, and Catastrophizing Predict Changes in Pain Intensity, Pain Interference, and Psychological Functioning in Individuals With Myotonic Muscular Dystrophy and Facioscapulohumeral Dystrophy. Clin J Pain. 2011 Jun 2. [Epub ahead of print] PMID: 21642844 [PubMed - as supplied by publisher]
  • Della Marca G, Frusciante R, Scatena M, Testani E, Vollono C, Losurdo A, Scarano E, Colicchio S, Farina B, Gnoni V, Mazza S, Tonali PA, Ricci E. Heart rate variability in facioscapulohumeral muscular dystrophy. Funct Neurol. 2010 Oct-Dec;25(4):211-6.
  • Della Marca G, Frusciante R, Scatena M, Testani E, Vollono C, Losurdo A, Scarano E, Colicchio S, Farina B, Gnoni V, Mazza S, Tonali PA, Ricci E. Heart rate variability in facioscapulohumeral muscular dystrophy. Funct Neurol. 2010 Oct-Dec;25(4):211-6.
  • Jordan B, Eger K, Koesling S, Zierz S. Camptocormia phenotype of FSHD: a clinical and MRI study on six patients. J Neurol. 2010 Dec 17. [Epub ahead of print] PMID: 21165637 [PubMed - as supplied by publisher]
  • Bass SJ, Sherman J, Giovinazzo V. Bilateral Coats' response in a female patient leads to diagnosis of facioscapulohumeral muscular dystrophy. Optometry. 2010 Dec 3. [Epub ahead of print] PMID: 21130700 [PubMed - as supplied by publisher]
  • de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 2010 Oct 26;75(17):1548-54. PMID: 20975055 [PubMed - in process]
  • Pino LJ, Stashuk DW, Podnar S. Probabilistic muscle characterization using quantitative electromyography: application to facioscapulohumeral muscular dystrophy. Muscle Nerve. 2010 Oct;42(4):563-9. PMID: 20740628 [PubMed - indexed for MEDLINE]
  • Winter Y, Schepelmann K, Spottke AE, Claus D, Grothe C, Schröder R, Heuss D, Vielhaber S, Tackenberg B, Mylius V, Reese JP, Kiefer R, Schrank B, Oertel WH, Dodel R. Health-related quality of life in ALS, myasthenia gravis and facioscapulohumeral muscular dystrophy. J Neurol. 2010 Sep;257(9):1473-81. Epub 2010 Apr 10. PMID: 20383521 [PubMed - in process]
  • Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve. 2010 Aug;42(2):213-7. PMID: 20544930 [PubMed - indexed for MEDLINE]
  • Kottlors M, Kress W, Meng G, Glocker FX. Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome. . Muscle Nerve. 2010 Aug;42(2):273-5. PMID: 20658601 [PubMed - in process]
  • Reynolds BC, Lemmers RJ, Tolmie J, Howatson AG, Hughes DA. Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association. Pediatr Nephrol. 2010 Aug;25(8):1551-4. Epub 2010 Feb 27. PMID: 20191367 [PubMed - indexed for MEDLINE]
  • Reilich P, Schramm N, Schoser B, Schneiderat P, Strigl-Pill N, Müller-Höcker J, Kress W, Ferbert A, Rudnik-Schöneborn S, Noth J, Lochmüller H, Weis J, Walter MC. Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol. 2010 Jul;257(7):1108-18. Epub 2010 Feb 10.PMID: 20146070 [PubMed - in process]
  • Kan HE, Klomp DW, Wohlgemuth M, van Loosbroek-Wagemans I, van Engelen BG, Padberg GW, Heerschap A. Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism. NMR Biomed. 2010 Jul;23(6):563-8.PMID: 20175146 [PubMed - indexed for MEDLINE]
  • Voet NB, Bleijenberg G, Padberg GW, van Engelen BG, Geurts AC. Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial. BMC Neurol. 2010 Jun 30;10:56. PMID: 20591139 [PubMed - indexed for MEDLINE] Free PMC Article Free tex
  • Tamhankar PM, Phadke SR. Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent. Neurol India. 2010 May-Jun;58(3):436-40. PMID: 20644274 [PubMed - in process] Free Article
  • ongmuir SQ, Mathews KD, Longmuir RA, Joshi V, Olson RJ, Abràmoff MD. Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity. J AAPOS. 2010 Jun;14(3):240-243. PMID: 20603058 [PubMed - as supplied by publisher]
  • Horlings CG, Munneke M, Bickerstaffe A, Laverman L, Allum JH, Padberg GW, Bloem BR, van Engelen BG. Epidemiology and pathophysiology of falls in facioscapulohumeral disease. Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1357-63. Epub 2009 Jun 21. PMID: 19546106 [PubMed - indexed for MEDLINE
  • Tawil R, van der Maarel S, Padberg GW, van Engelen BG. 171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2010 Jul;20(7):471-5. No abstract available. PMID: 20554202 [PubMed - indexed for MEDLINE
  • Colson SS, Benchortane M, Tanant V, Faghan JP, Fournier-Mehouas M, Benaïm C, Desnuelle C, Sacconi S. Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients. Arch Phys Med Rehabil. 2010 May;91(5):697-702. PMID: 20434605 [PubMed - indexed for MEDLINE]
  • Della Marca G, Pantanali F, Frusciante R, Scarano E, Cianfoni A, Calò L, Dittoni S, Vollono C, Losurdo A, Testani E, Colicchio S, Gnoni V, Iannaccone E, Farina B, Pirronti T, Tonali PA, Ricci E. Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas. Sleep Breath. 2010 Feb 20. [Epub ahead of print]PMID: 20174877 [PubMed - as supplied by publisher]
  • Kazakov V, Rudenko D, Skorometz A, Kolynin V. Scapuloperoneal muscular dystrophy is an independent variant of FSHD? Acta Myol. 2009 Dec;28(3):103. No abstract available. PMID: 20476670 [PubMed - indexed for MEDLINE]
  • Stübgen JP, Stipp A. Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. J Neurol. 2010 Mar 30. [Epub ahead of print] PMID: 20352247 [PubMed - as supplied by publisher
  • Minis MA, Heerkens Y, Engels J, Oostendorp R, van Engelen B. Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: A systematic review. Disabil Rehabil. 2009;31(26):2150-63. PMID: 19903125 [PubMed - in process]
  • Iosa M, Mazzà C, Pecoraro F, Aprile I, Ricci E, Cappozzo A. Control of the upper body movements during level walking in patients with facioscapulohumeral dystrophy. Gait Posture. 2009 Sep 24. [Epub ahead of print] PMID: 19782569 [PubMed - as supplied by publisher]
  • Eger K, Jordan B, Habermann S, Zierz S. Beevor's sign in facioscapulohumeral muscular dystrophy: an old sign with new implications. J Neurol. 2009 Oct 17. [Epub ahead of print] PMID: 19838767 [PubMed - as supplied by publisher]
  • Schepelmann K, Winter Y, Spottke AE, Claus D, Grothe C, Schröder R, Heuss D, Vielhaber S, Mylius V, Kiefer R, Schrank B, Oertel WH, Dodel R. Socioeconomic burden of amyotrophic lateral sclerosis, myasthenia gravis and facioscapulohumeral muscular dystrophy. J Neurol. 2009 Jul 24. [Epub ahead of print] PMID: 19629566
  • Lee CS, Kang SJ, Hwang CJ, Lee SW, Ahn YJ, Kim YT, Lee DH, Lee MY. Early-onset facioscapulohumeral muscular dystrophy - significance of pelvic extensors in sagittal spinal imbalance. J Pediatr Orthop B. 2009 Jul 17. [Epub ahead of print] PMID: 19620895
  • Padua L, Aprile I, Frusciante R, Iannaccone E, Rossi M, Renna R, Messina S, Frasca G, Ricci E. Quality of life and pain in patients with facioscapulohumeral muscular dystrophy. Muscle Nerve. 2009 Aug;40(2):200-5.
    PMID: 19609906
  • Lue YJ, Lin RF, Chen SS, Lu YM. Kaohsiung. Measurement of the functional status of patients with different types of muscular dystrophy. J. Med Sci. 2009 Jun;25(6):325-33.
  • Zouvelou V, Manta P, Kalfakis N, Evdokimidis I, Vassilopoulos D.. Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy. J Clin Neurosci. 2009 Jun 5. [Epub ahead of print]
  • Della Marca G, Frusciante R, Dittoni S, Vollono C, Buccarella C, Iannaccone E, Rossi M, Scarano E, Pirronti T, Cianfoni A, Mazza S, Tonali PA, Ricci E. Sleep disordered breathing in facioscapulohumeral muscular dystrophy. J Neurol Sci. 2009 Jun 4. [Epub ahead of print]
  • Minis MA, Heerkens Y, Engels J, Oostendorp R, van Engelen B. Classification of employment factors according to the International Classification of Functioning, Disability and Health in patients with neuromuscular diseases: A systematic review. Disabil Rehabil. 2009 May 20:1-14. [Epub ahead of print]
  • Miro J, Raichle KA, Carter GT, O'Brien SA, Abresch RT, McDonald CM, Jensen MP. Impact of Biopsychosocial Factors on Chronic Pain in Persons With Myotonic and Facioscapulohumeral Muscular Dystrophy. Am J Hosp Palliat Care. 2009 May 12. [Epub ahead of print]
  • Wuebbles RD, Hanel ML, Jones PL. FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis Model Mech. 2009 May-Jun;2(5-6):267-74. 2009 Apr 21. [Epub ahead of print]
  • Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. RNA Transcripts, miRNA-sized Fragments, and Proteins Produced from D4Z4 Units: New Candidates for the Pathophysiology of Facioscapulohumeral Dystrophy. Hum Mol Genet. 2009 Apr 9. [Epub ahead of print]
  • Stübgen JP, Schultz C. Lung and respiratory muscle function in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2009 Mar 19. [Epub ahead of print]
  • Podnar S. Predictive values of motor unit potential analysis in limb muscles. Clin Neurophysiol. 2009 Mar 27. [Epub ahead of print]
  • Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M. Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc Natl Acad Sci U S A. 2009 Apr 1. [Epub ahead of print]
  • Tsuji M, Kinoshita M, Imai Y, Kawamoto M, Kohara N. Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: A case study. Neuromuscul Disord. 2009 Jan 13. [Epub ahead of print]
  • Ki CS, Lee ST, Kim KS, Kim JW, Hong YH, Sung JJ, Park KS, Lee KW. Clinical and genetic analysis of korean patients with facioscapulohumeral muscular dystrophy. J Korean Med Sci. 2008;23(6):959-63.
  • Trevisan CP, Pastorello E, Tomelleri G, Vercelli L, Bruno C, Scapolan S, Siciliano G, Comacchio F. Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions. Eur J Neurol. 2008 15(12):1353-8.
  • Kalkman JS, Zwarts MJ, Schillings ML, van Engelen BG, Bleijenberg G. Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue. Neurol Sci. 2008;29 Suppl 2:S238-40.
  • Skalsky AJ, Abresch RT, Han JJ, Shin CS, McDonald CM. The relationship between regional body composition and quantitative strength in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord. 2008 Sep 23. [Epub ahead of print]
  • Istiaga A, Camaño P, Otaegui D, Ibáñez B, Ruiz-Martinez J, Martí-Massó JF, López de Munain A. Cognitive function in facioscapulohumeral dystrophy correlates with the molecular defect. Genotype-cognitive phenotype correlation in FSHD. Genes Brain Behav. 2008 Sep 22. [Epub ahead of print]
  • Skalsky AJ, Abresch RT, Han JJ, Shin CS, McDonald CM. The relationship between regional body composition and quantitative strength in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord. 2008 Sep 23. [Epub ahead of print]
  • Stübgen JP. Facioscapulohumeral Muscular Dystrophy: A Radiologic and Manometric Study of the Pharynx and Esophagus. Dysphagia. 2008 Feb 8.
  • Jensen MP, Hoffman AJ, Stoelb BL, Abresch RT, Carter GT, McDonald CM. Chronic pain in persons with myotonic dystrophy and facioscapulohumeral dystrophy. Arch Phys Med Rehabil. 2008 Feb;89(2):320-8.
  • Kolski HK, Leonard NJ, Lemmers RJ, Bamforth JS. Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy. Muscle Nerve. 2008 Apr;37(4):526-9.
  • Trevisan CP, Pastorello E, Ermani M, Angelini C, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Marioni G, Rimini A. Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol Neurootol. 2008;13(1):1-6.
  • Stübgen JP. Facioscapulohumeral muscular dystrophy. Multimodal evoked potentials and electroretinogram. Electromyogr Clin Neurophysiol. 2007 Jul;47(4-5):233-41.
  • Della Marca G, Frusciante R, Vollono C, Dittoni S, Galluzzi G, Buccarella C, Modoni A, Mazza S, Tonali PA, Ricci E. Sleep quality in Facioscapulohumeral muscular dystrophy. J Neurol Sci. 2007 Dec 15;263(1-2):49-53.
  • Stübgen JP. Facioscapulohumeral muscular dystrophy. A quantitative electromyographic study. Electromyogr Clin Neurophysiol. 2007 May-Jun;47(3):175-82.
  • Kalkman JS, Schillings ML, Zwarts MJ, van Engelen BG, Bleijenberg G. The development of a model of fatigue in neuromuscular disorders: a longitudinal tudy. J Psychosom Res. 2007 May;62(5):571-9.
  • Kalkman JS, Schillings ML, Zwarts MJ, van Engelen BG, Bleijenberg G. Psychiatric disorders appear equally in patients with myotonic dystrophy, facioscapulohumeral dystrophy, and hereditary motor and sensory neuropathy type I. Acta Neurol Scand. 2007 Apr;115(4):265-70.
  • van der Kooi EL, Kalkman JS, Lindeman E, Hendriks JC, van Engelen BG, Bleijenberg G, Padberg GW. Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. J Neurol. 2007 Jul;254(7):931-40.
  • Schillings ML, Kalkman JS, Janssen HM, van Engelen BG, Bleijenberg G, Zwarts MJ. Experienced and physiological fatigue in neuromuscular disorders. Clin Neurophysiol. 2007 Feb;118(2):292-300.
  • Quarantelli M, Lanzillo R, Del Vecchio W, Mollica C, Prinster A, Iadicicco L, Iodice V, Santoro L, Salvatore M. Modifications of brain tissue volumes in facioscapulohumeral dystrophy. Neuroimage. 2006 Sep;32(3):1237-42.
  • Trevisan CP, Pastorello E, Armani M, Angelini C, Nante G, Tomelleri G, Tonin P, Mongini T, Palmucci L, Galluzzi G, Tupler RG, Barchitta A. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol. 2006;56(1):1-5
  • Wohlgemuth M, de Swart BJ, Kalf JG, Joosten FB, Van der Vliet AM, Padberg GW. Dysphagia in facioscapulohumeral muscular dystrophy. Neurology. 2006 Jun 27;66(12):1926-8.
  • Olsen DB, Gideon P, Jeppesen TD, Vissing J. Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J Neurol. 2006 Nov;253(11):1437-41.
  • Podnar S, Zidar J. Sensitivity of motor unit potential analysis in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2006 Oct;34(4):451-6.
  • Ciafaloni E, Pressman EK, Loi AM, Smirnow AM, Guntrum DJ, Dilek N, Tawil R. Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy. Neurology. 2006 Nov 28;67(10):1887-9.
  • Balatsouras DG, Korres S, Manta P, Panousopoulou A, Vassilopoulos D. Cochlear function in facioscapulohumeral muscular dystrophy. Otol Neurotol. 2007 Jan;28(1):7-10.
  • Saito Y, Miyashita S, Yokoyama A, Komaki H, Seki A, Maegaki Y, Ohno K. Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy. Brain Dev. 2007 May;29(4):231-3.
  • Klinge L, Eagle M, Haggerty ID, Roberts CE, Straub V, Bushby KM. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2006 Oct;16(9-10):553-8.
  • Kalkman JS, Schillings ML, Zwarts MJ, van Engelen BG, Bleijenberg G. Influence of relatives on fatigue experienced by patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Eur Neurol. 2006;56(1):24-30.
  • Moreno Izco F, Mendioroz Iriarte M, Poza Aldea JJ, Martí Massó JF, López de Munain A. Analysis of gait and movement of upper limbs in muscular dystrophies. Neurologia. 2005 Sep;20(7):341-8.
  • Felice KJ, Jones JM, Conway SR. Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family. Muscle Nerve. 2005 Sep;32(3):368-72.
  • Emmrich P, Ogunlade V, Gradistanac T, Daneschnejad S, Koch MC, Schober R. Facioscapulohumeral muscle dystrophy and heart disease. Z Kardiol. 2005 May;94(5):348-54.
  • Dorobek M, Kabzinska D. A severe case of facioscapulohumeral muscular dystrophy (FSHD) with some uncommon clinical features and a short 4q35 fragment. Eur J Paediatr Neurol. 2004;8(6):313-6.
  • Neudecker S, Krasnianski M, Bahn E, Zierz S. Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature. Acta Neuropathol. 2004 Sep;108(3):257-9.
  • Wood-Allum C, Brennan P, Hewitt M, Lowe J, Tyfield L, Wills A. Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD). Neuropathol Appl Neurobiol. 2004 Apr;30(2):188-91.
  • Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology. 2004 Jul 13;63(1):176-8.
  • Sharma S, Namrata S. Association of schizophrenia and mental retardation with facio-scapulohumeral muscular dystrophy. Neurol India. 2004 Mar;52(1):104-5.
  • Yamanaka G, Goto K, Ishihara T, Oya Y, Miyajima T, Hoshika A, Nishino I, Hayashi YK. FSHD-like patients without 4q35 deletion. J Neurol Sci. 2004 Apr 15;219(1-2):89-93.
  • Di Lazzaro V, Oliviero A, Tonali PA, Felicetti L, De Marco MB, Saturno E, Pilato F, Pescatori M, Dileone M, Pasqualetti P, Ricci E. Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2004 Jan;14(1):39-45.
  • Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord. 2004 Jan;14(1):33-8.
  • Güler AU, Ceylan G, Ozkoç O, Aydiin M, Cengiz N. Prosthetic treatment of a patient with facioscapulohumeral muscular dystrophy: a clinical report. J Prosthet Dent. 2003 Oct;90(4):321-4.
  • Butz M, Koch MC, Müller-Felber W, Lemmers RJ, van der Maarel SM, Schreiber H. Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J Neurol. 2003 Aug;250(8):932-7.
  • Shigeto H, Tamura T, Oya Y, Ogawa M, Kawai M. Facioscapulohumeral muscular dystrophy with sinus dysfunction. Rinsho Shinkeigaku. 2002 Sep;42(9):881-4.
  • Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S. Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes. Nervenarzt. 2003 Feb;74(2):151-8.
  • Faber CG, Klaver MM, Wokke JH. A winged scapula. Ned Tijdschr Geneeskd. 2002 Sep 14;146(37):1717-20.
  • Yamanaka G, Goto K, Hayashi YK, Miyajima T, Hoshika A, Arahata K. Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy. No To Hattatsu. 2002 Jul;34(4):318-24.
  • Miura K, Kumagai T, Matsumoto A, Iriyama E, Watanabe K, Goto K, Arahata K. Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Neuropediatrics. 1998 Oct;29(5):239-41.
  • Bushby KM, Pollitt C, Johnson MA, Rogers MT, Chinnery PF. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscul Disord. 1998 Dec;8(8):574-9.
  • Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology. 1998 Jun;50(6):1791-4.
  • Okinaga A, Matsuoka T, Umeda J, Yanagihara I, Inui K, Nagai T, Okada S. Early-onset facioscapulohumeral muscular dystrophy: two case reports. Brain Dev. 1997 Dec;19(8):563-7.
  • Kimura T, Moriwaki T, Sawada J, Naka T, Hazama T, Nakata T. A family with facioscapulohumeral muscular dystrophy and hereditary long QT syndrome. Rinsho Shinkeigaku. 1997 Aug;37(8):690-2.
  • Nitahara K, Sakuragi T, Matsuyama M, Dan K. Response to vecuronium in a patient with facioscapulohumeral muscular dystrophy. Br J Anaesth. 1999 Sep;83(3):499-500.
  • van der Kooi AJ, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JH, Bakker E, de Visser M. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):114-6.
  • Lue YJ, Chen SS. The strength and functional performance in patients with facioscapulohumeral muscular dystrophy. Kaohsiung J Med Sci. 2000 May;16(5):248-54.
  • Bakhtiary AH, Phoenix J, Edwards RH, Frostick SP. The effect of motor learning in facioscapulohumeral muscular dystrophy patients. Eur J Appl Physiol. 2000 Dec;83(6):551-8.
  • Felice KJ, Moore SA. Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve. 2001 Mar;24(3):352-6.
  • Yamanaka G, Goto K, Matsumura T, Funakoshi M, Komori T, Hayashi YK, Arahata K. Tongue atrophy in facioscapulohumeral muscular dystrophy. Neurology. 2001 Aug 28;57(4):733-5.
  • Brouwer OF, Padberg GW, Ruys CJ, Brand R, de Laat JA, Grote JJ. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology. 1991 Dec;41(12):1878-81.
  • Lin MY, Nonaka I. Facioscapulohumeral muscular dystrophy: muscle fiber type analysis with particular reference to small angular fibers. Brain Dev. 1991 Sep;13(5):331-8.
  • Akiyama C, Suzuki H, Nonaka I. A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality. No To Hattatsu. 1991 Jul;23(4):395-9.
  • Awerbuch GI, Nigro MA, Wishnow R. Beevor's sign and facioscapulohumeral dystrophy. Arch Neurol. 1990 Nov;47(11):1208-9.
  • Fujimura H, Yoshikawa H, Ueno S, Yorifuji S, Tarui S. A case of facioscapulohumeral muscular dystrophy with sensorineural hearing loss and retinal angioma. Rinsho Shinkeigaku. 1989 Nov;29(11):1387-91. Japanese.
  • Voit T, Lamprecht A, Lenard HG, Goebel HH. Hearing loss in facioscapulohumeral dystrophy. Eur J Pediatr. 1986 Sep;145(4):280-5.
  • Gieron MA, Korthals JK, Kousseff BG. Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels. Am J Med Genet. 1985 Sep;22(1):143-7.
  • Yasukohchi S, Yagi Y, Akabane T, Terauchi A, Tamagawa K, Mizuno Y. Facioscapulohumeral dystrophy associated with sensorineural hearing loss, tortuosity of retinal arterioles, and an early onset and rapid progression of respiratory failure. Brain Dev. 1988;10(5):319-24.
  • Fowler WM Jr, Abresch RT, Koch TR, Brewer ML, Bowden RK, Wanlass RL. Employment profiles in neuromuscular diseases. Am J Phys Med Rehabil. 1997 Jan-Feb;76(1):26-37.
  • Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Ann Neurol. 1996 Jun;39(6):744-8.
  • Nakagawa M, Higuchi I, Yoshidome H, Isashiki Y, Ohkubo R, Kaseda S, Iwaki H, Fukunaga H, Osame M. Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality. Acta Neurol Scand. 1996 Feb-Mar;93(2-3):189-92.
  • Ichikawa Y, Yamada H, Motoyoshi Y, Shimizu T, Kawai M. Abnormal head drooping in facioscapulohumeral muscular dystrophy. Rinsho Shinkeigaku. 1996 Mar;36(3):503-6.
  • Kilmer DD, Abresch RT, McCrory MA, Carter GT, Fowler WM Jr, Johnson ER, McDonald CM. Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil. 1995 Sep-Oct;74(5 Suppl):S131-9.
  • Verhagen WI, Huygen PL, Padberg GW. The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy. Acta Otolaryngol Suppl. 1995;520 Pt 1:140-2.
  • Kazakov VM, Rudenko DI. Clinical variability of acioscapulohumeral muscular dystrophy in Russia. Muscle Nerve. 1995;2:S85-95.
  • Padberg GW, Frants RR, Brouwer OF, Wijmenga C, Bakker E, Sandkuijl LA. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve. 1995;2:S81-4.
  • Padberg GW, Brouwer OF, de Keizer RJ, Dijkman G, Wijmenga C, Grote JJ, Frants RR. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve. 1995;2:S73-80.
  • Brouwer OF, Padberg GW, Bakker E, Wijmenga C, Frants RR. Early onset facioscapulohumeral muscular dystrophy.
    Muscle Nerve. 1995;2:S67-72.
  • Arahata K, Ishihara T, Fukunaga H, Orimo S, Lee JH, Goto K, Nonaka I. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses.Muscle Nerve. 1995;2:S56-66.
  • Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B. Monozygotic twins with facioscapulohumeral dystrophy (FSHD): implications for genotype/phenotype correlation. FSH-DY Group. Muscle Nerve. 1995;2:S50-5.
  • Brouwer OF, Padberg GW, Wijmenga C, Frants RR. Facioscapulohumeral muscular dystrophy in early childhood. Arch Neurol. 1994 Apr;51(4):387-94.
  • Tawil R, McDermott MP, Mendell JR, Kissel J, Griggs RC. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing. FSH-DY Group. Neurology. 1994 Mar;44(3 Pt 1):442-6.
  • Personius KE, Pandya S, King WM, Tawil R, McDermott MP. Facioscapulohumeral dystrophy natural history study: standardization of testing procedures and reliability of measurements. The FSH DY Group. Phys Ther. 1994 Mar;74(3):253-63.
  • Sánchez-Alcón MD, Pérez Garrigues H, Vílchez J, Casanova B, Morera C. The study of deafness in patients with facioscapulohumeral dystrophy. Acta Otorrinolaringol Esp. 1994 Mar-Apr;45(2):79-82.
  • Tawil R, Storvick D, Feasby TE, Weiffenbach B, Griggs RC. Extreme variability of expression in monozygotic twins with FSH muscular dystrophy. Neurology. 1993 Feb;43(2):345-8.
  • Wevers CW, Brouwer OF, Padberg GW, Nijboer ID. Job perspectives in facioscapulohumeral muscular dystrophy. Disabil Rehabil. 1993 Jan-Mar;15(1):24-8.
  • Brouwer OF, Padberg GW, van der Ploeg RJ, Ruys CJ, Brand R. The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy. Brain. 1992 Oct;115 ( Pt 5):1587-98.

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DISEASE MECHANISM & MOLECULAR GENETICS

 

  • Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM. The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1. Am J Hum Genet. 2013 Sep 25. doi:pii: S0002-9297(13)00379-0. 10.1016/j.ajhg.2013.08.004. PMID: 24075187
  • Pakula A, Schneider J, Janke J, Zacharias U, Schulz H, Hübner N, Mähler A, Spuler A, Spuler S, Carlier P, Boschmann M. Altered Expression of Cyclin A 1 In Muscle of Patients with Facioscapulohumeral Muscle Dystrophy (FSHD-1). PLoS One. 2013 Sep 3;8(9):e73573. doi: 10.1371/journal.pone.0073573. PMID: 24019929.

  • Ferreboeuf M, Mariot V, Bessières B, Vasiljevic A, Attié-Bitach T, Collardeau S, Morere J, Roche S, Magdinier F, Robin-Ducellier J, Rameau P, Whalen S, Desnuelle C, Sacconi S, Mouly V, Butler-Browne G, Dumonceaux J. DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. Hum Mol Genet. 2013 Sep 4. [Epub ahead of print] PMID: 23966205

  • Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG. Hum Mol Genet. 2013 Jul 12. [Epub ahead of print] PMID: 23821646 [PubMed - as supplied by publisher]
  • Neguembor MV, Xynos A, Onorati MC, Caccia R, Bortolanza S, Godio C, Pistoni M, Corona DF, Schotta G, Gabellini D. J. FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis. Mol Cell Biol. 2013 May 29. [Epub ahead of print] PMID: 23720823 [PubMed - as supplied by publisher]
  • Sharma V, Harafuji N, Belayew A, Chen YW. DUX4 Differentially Regulates Transcriptomes of Human Rhabdomyosarcoma and Mouse C2C12 Cells. PLoS One. 2013 May 22;8(5):e64691. doi: 10.1371/journal.pone.0064691. Print 2013. PMID: 23717650 [PubMed - in process]
  • Stadler G, Rahimov F, King OD, Chen JC, Robin JD, Wagner KR, Shay JW, Emerson CP Jr, Wright WE. Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy. Nat Struct Mol Biol. 2013 May 5. doi: 10.1038/nsmb.2571. [Epub ahead of print] PMID: 23644600 [PubMed - as supplied by publisher]
  • Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS, Rijkers T, van Engelen BG, Padberg GW, Frants RR, Tawil R, Tapscott SJ, van der Maarel SM. Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD. PLoS Genet. 2013 Apr;9(4):e1003415. doi: 10.1371/journal.pgen.1003415. Epub 2013 Apr 4. PMID: 23593020 [PubMed - in process] Free PMC Article
  • Harafuji N, Schneiderat P, Walter MC, Chen YW. miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors. Orphanet J Rare Dis. 2013 Apr 5;8:55. doi: 10.1186/1750-1172-8-55. PMID: 23561550 [PubMed - in process] Free PMC Article
  • Dandapat A, Hartweck LM, Bosnakovski D, Kyba M. Expression of the human FSHD-linked DUX4 gene induces neurogenesis during differentiation of murine embryonic stem cells. Stem Cells Dev. 2013 Apr 5. [Epub ahead of print] PMID: 23560660 [PubMed - as supplied by publisher]
  • Xynos A, Neguembor MV, Caccia R, Licastro D, Nonis A, Di Serio C, Stupka E, Gabellini D. Facioscapulohumeral muscular dystrophy region gene 1 over-expression causes primary defects of myogenic stem cells. J Cell Sci. 2013 Mar 22. [Epub ahead of print] PMID: 23525014 [PubMed - as supplied by publisher]
  • Giussani M, Cardone MF, Bodega B, Ginelli E, Meneveri R. Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35). Genomics. 2012 Nov;100(5):289-96. doi: 10.1016/j.ygeno.2012.07.011. Epub 2012 Jul 21. PMID: 22824653 [PubMed - indexed for MEDLINE] Free PMC Article
  • Lassche S, Stienen GJ, Irving TC, van der Maarel SM, Voermans NV, Padberg GW, Granzier H, van Engelen BG, Ottenheijm CA. Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy.Neurology. 2013 Jan 30. [Epub ahead of print] PMID: 23365058 [PubMed - as supplied by publisher]
  • Pistoni M, Shiue L, Cline MS, Bortolanza S, Neguembor MV, Xynos A, Ares M Jr, Gabellini D. Rbfox1 Downregulation and Altered Calpain 3 Splicing by FRG1 in a Mouse Model of Facioscapulohumeral Muscular Dystrophy (FSHD). PLoS Genet. 2013 Jan;9(1):e1003186. doi: 10.1371/journal.pgen.1003186. Epub 2013 Jan 3. Free PMC Article
  • Hartweck LM, Anderson LJ, Lemmers RJ, Dandapat A, Toso EA, Dalton JC, Tawil R, Day JW, van der Maarel SM, Kyba M. A focal domain of extreme demethylation within D4Z4 in FSHD2. Neurology. 2013 Jan 2. [Epub ahead of print] PMID: 23284062 [PubMed - as supplied by publisher]
  • Tassin A, Leroy B, Laoudj-Chenivesse D, Wauters A, Vanderplanck C, Le Bihan MC, Coppée F, Wattiez R, Belayew A. FSHD Myotubes with Different Phenotypes Exhibit Distinct Proteomes. PLoS One. 2012;7(12):e51865. doi: 10.1371/journal.pone.0051865. Epub 2012 Dec 18. PMID: 23272181 [PubMed - in process] Free PMC Articles
  • Tassin A, Laoudj-Chenivesse D, Vanderplanck C, Barro M, Charron S, Ansseau E, Chen YW, Mercier J, Coppée F, Belayew A. DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? J Cell Mol Med. 2012 Dec 4. doi: 10.1111/j.1582-4934.2012.01647.x. [Epub ahead of print] PMID: 23206257 [PubMed - as supplied by publisher]
  • Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012 Nov 11;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11. PMID: 23143600 [PubMed - in process]
  • Pandey SN, Cabotage J, Shi R, Dixit M, Sutherland M, Liu J, Muger S, Harper SQ, Nagaraju K, Chen YW. Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice. Biol Open. 2012 Jul;1(7):629-639. Epub 2012 May 25. PMID: 23125914 [PubMed] Free PMC Article
  • Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM. Expression of DUX4 in zebrafish development recapitulates Facioscapulohumeral muscular dystrophy. Hum Mol Genet. 2012 Oct 29. [Epub ahead of print] PMID: 23108159 [PubMed - as supplied by publisher]
  • Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP Jr, Kunkel LM, Wagner KR. Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012 Sep 17. [Epub ahead of print] PMID: 22988124 [PubMed - as supplied by publisher]
  • Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ, van Engelen BG, Mouly V, Butler-Browne GS, van der Maarel SM. Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD. Am J Pathol. 2012 Aug 4. [Epub ahead of print]
  • Block GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN, Miller DG. Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production. PLoS One. 2012;7(4):e35532. Epub 2012 Apr 20. PMID: 22536400 [PubMed - indexed for MEDLINE] Free PMC Article
  • Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet. 2012 Jul 30. [Epub ahead of print] PMID: 22798623 [PubMed - as supplied by publisher]
  • Turki A, Hayot M, Carnac G, Pillard F, Passerieux E, Bommart S, de Mauverger ER, Hugon G, Pincemail J, Pietri S, Lambert K, Belayew A, Vassetzky Y, Juntas Morales R, Mercier J, Laoudj-Chenivesse D. Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction. Free Radic Biol Med. 2012 Jul 11. [Epub ahead of print] PMID: 22796148 [PubMed - as supplied by publisher]
  • Ogborn DI, Smith KJ, Crane JD, Safdar A, Hettinga BP, Tupler R, Tarnopolsky MA. Effects of creatine and exercise on skeletal muscle of FRG1-transgenic mice. Can J Neurol Sci. 2012 Mar;39(2):225-31. PMID: 22343158 [PubMed - indexed for MEDLINE]
  • Tasca G, Pescatori M, Monforte M, Mirabella M, Iannaccone E, Frusciante R, Cubeddu T, Laschena F, Ottaviani P, Ricci E. Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. PLoS One. 2012;7(6):e38779. Epub 2012 Jun 13. PMID: 22719944 [PubMed - in process]
  • Ehrlich M, Lacey M. Deciphering transcription dysregulation in FSH muscular dystrophy. J Hum Genet. 2012 Jun 21. doi: 10.1038/jhg.2012.74. [Epub ahead of print] PMID: 22718021 [PubMed - as supplied by publisher]
  • Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, Tanaka Y, Gabellini D. A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy. Cell. 2012 Apr 26. [Epub ahead of print]PMID: 22541069 [PubMed - as supplied by publisher]
  • Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, van der Maarel SM, Ruzzo WL, Gentleman RC, Tawil R, Tapscott SJ. DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy. Dev Cell. 2012 Jan 17;22(1):38-51. Epub 2011 Dec 29. PMID: 22209328 [PubMed - in process]
  • Homma S, Chen JC, Rahimov F, Beermann ML, Hanger K, Bibat GM, Wagner KR, Kunkel LM, Emerson CP Jr, Miller JB. A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function. Eur J Hum Genet. 2011 Nov 23. doi: 10.1038/ejhg.2011.213. [Epub ahead of print] PMID: 22108603 [PubMed - as supplied by publisher] 
  • Pope BD, Tsumagari K, Battaglia D, Ryba T, Hiratani I, Ehrlich M, Gilbert DM. DNA replication timing is maintained genome-wide in primary human myoblasts independent of D4Z4 contraction in FSH muscular dystrophy. PLoS One. 2011;6(11):e27413. Epub 2011 Nov 11. PMID: 22096571 [PubMed - in process]
  • Vanderplanck C, Ansseau E, Charron S, Stricwant N, Tassin A, Laoudj-Chenivesse D, Wilton SD, Coppée F, Belayew A. The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression. PLoS One. 2011;6(10):e26820. Epub 2011 Oct 28.
  • Cheli S, François S, Bodega B, Ferrari F, Tenedini E, Roncaglia E, Ferrari S, Ginelli E, Meneveri R. Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns. PLoS One. 2011;6(6):e20966. Epub 2011 Jun 13. PMID: 21695143 [PubMed - indexed for MEDLINE] Free PMC Article
  • Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J Med Genet. 2011 Oct 7.
  • Tsumagari K, Chang SC, Lacey M, Baribault C, Chittur SV, Sowden J, Tawil R, Crawford GE, Ehrlich M. Gene expression during normal and FSHD myogenesis. BMC Med Genomics. 2011 Sep 27;4(1):67. [Epub ahead of print]
  • Dmitriev P, Petrov A, Ansseau E, Stankevicins L, Charron S, Kim E, Bos TJ, Robert T, Turki A, Coppee F, Belayew A, Lazar V, Carnac G, Laoudj D, Lipinski M, Vassetzky YS. The Kruppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. J Biol Chem. 2011 Sep 21. [Epub ahead of print]
  • Pikó H, Molnár MJ, Herczegfalvi A, Mayer P, Karcagi V. Role of associated alleles and hypomethylation status in the clinical expression of facioscapulohumeral muscular dystrophy. Orv Hetil. 2011 Sep 25;152(39):1576-85. Hungarian.
  • Bortolanza S, Nonis A, Sanvito F, Maciotta S, Sitia G, Wei J, Torrente Y, Di Serio C, Chamberlain JR, Gabellini D. AAV6-mediated Systemic shRNA Delivery Reverses Disease in a Mouse Model of Facioscapulohumeral Muscular Dystrophy. Mol Ther. 2011 Aug 9. doi: 10.1038/mt.2011.153. [Epub ahead of print]
  • Balog J, Miller D, Sanchez-Curtailles E, Carbo-Marques J, Block G, Potman M, de Knijff P, Lemmers RJ, Tapscott SJ, van der Maarel SM. Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47. Eur J Hum Genet. 2011 Aug 3. doi: 10.1038/ejhg.2011.150. [Epub ahead of print]
  • Stadler G, Chen JC, Wagner K, Robin JD, Shay JW, Emerson CP Jr, Wright WE. Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population. Skelet Muscle. 2011 Mar 8;1(1):12. PMID: 21798090 [PubMed - in process]
  • Wallace LM, Garwick-Coppens SE, Tupler R, Harper SQ. RNA Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). Mol Ther. 2011 Jul 5. doi: 10.1038/mt.2011.118. [Epub ahead of print] PMID: 21730972 [PubMed - as supplied by publisher]
  • Sun CY, van Koningsbruggen S, Long SW, Straasheijm K, Klooster R, Jones TI, Bellini M, Levesque L, Brieher WM, van der Maarel SM, Jones PL. Facioscapulohumeral Muscular Dystrophy Region Gene 1 Is a Dynamic RNA-Associated and Actin-Bundling Protein. J Mol Biol. 2011 Jun 15. [Epub ahead of print] PMID: 21699900 [PubMed - as supplied by publisher]
  • Chen SC, Frett E, Marx J, Bosnakovski D, Reed X, Kyba M, Kennedy BK. Decreased Proliferation Kinetics of Mouse Myoblasts Overexpressing FRG1. PLoS One. 2011;6(5):e19780. Epub 2011 May 16.
    PMID: 21603621 [PubMed - in process]
  • Geng LN, Tyler AE, Tapscott SJ. Hybridoma (Larchmt). Immunodetection of human double homeobox 4. 2011 Apr;30(2):125-30. PMID: 21529284 [PubMed - in process]
  • Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, Guttridge D, Yang J, Harper SQ. DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2011 Mar;69(3):540-52. doi: 10.1002/ana.22275. Epub 2010 Dec 8
  • Pearson CE. FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis). PLoS Genet. 2010 Oct 28;6(10):e1001180. No abstract available. PMID: 21060814 [PubMed - indexed for MEDLINE
  • Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG.Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010 Oct 28;6(10):e1001181.
  • Fitzsimons RB.Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt? Neuromuscul Disord. 2011 Apr;21(4):263-71. Epub 2011 Mar 4.
  • Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, Guttridge D, Yang J, Harper SQ. DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2011 Mar;69(3):540-52. doi: 10.1002/ana.22275. Epub 2010 Dec 8.
  • Pearson CE. FSHD: a repeat contraction disease finally ready to expand (our understanding of its pathogenesis). PLoS Genet. 2010 Oct 28;6(10):e1001180. No abstract available. PMID: 21060814 [PubMed - indexed for MEDLINE]
  • Snider L, Geng LN, Lemmers RJ, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG.Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010 Oct 28;6(10):e1001181.
  • Morosetti R, Gidaro T, Broccolini A, Gliubizzi C, Sancricca C, Tonali PA, Ricci E, Mirabella M. Mesoangioblasts from Facioscapulohumeral Muscular Dystrophy display in vivo a variable myogenic ability predictable by their in vitro behavior. Cell Transplant. 2010 Dec 22. [Epub ahead of print] PMID: 21176400 [PubMed - as supplied by publisher] 
  • Leidenroth A, Hewitt JE. A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene. BMC Evol Biol. 2010 Nov 26;10:364. PMID: 21110847 [PubMed - in process]
  • Hanel ML, Sun CY, Jones TI, Long SW, Zanotti S, Milner D, Jones PL. Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein. Differentiation. 2010 Oct 20. [Epub ahead of print] PMID: 20970242 [PubMed - as supplied by publisher]
  • Frisullo G, Frusciante R, Nociti V, Tasca G, Renna R, Iorio R, Patanella AK, Iannaccone E, Marti A, Rossi M, Bianco A, Monforte M, Tonali PA, Mirabella M, Batocchi AP, Ricci E. CD8(+) T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI. J Clin Immunol. 2010 Nov 10. [Epub ahead of print]PMID: 21063901 [PubMed - as supplied by publisher]
  • Mahadevan MS. Genetics. Exposing a DUX tale. Science. 2010 Sep 24;329(5999):1607-8. PMID: 20929834 [PubMed - indexed for MEDLINE]
  • Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, Jan van Ommen G, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy. Science. 2010 Aug 19. [Epub ahead of print] PMID: 20724583 [PubMed - as supplied by publisher]
  • Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population. Eur J Hum Genet. 2010 Aug 25. [Epub ahead of print] PMID: 20736973 [PubMed - as supplied by publisher]
  • Tsumagari K, Chen D, Hackman JR, Bossler AD, Ehrlich M. FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease. J Med Genet. 2010 Aug 15. [Epub ahead of print] PMID: 20710047 [PubMed - as supplied by publisher]
  • Wuebbles RD, Long SW, Hanel ML, Jones PL. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int J Clin Exp Pathol. 2010 Mar 28;3(4):386-400. PMID: 20490329 [PubMed - in process]
  • Liu Q, Jones TI, Tang VW, Brieher WM, Jones PL. Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites. J Cell Sci. 2010 Apr 1;123(Pt 7):1116-23. Epub 2010 Mar 9. PMID: 20215405 [PubMed - in process] 
  • Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM. Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution. Am J Hum Genet. 2010 Mar 12;86(3):364-77. Epub 2010 Mar 4. PMID: 20206332 [PubMed - in process] 
  • Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST. Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei. Eur J Hum Genet. 2009 Nov 4. [Epub ahead of print] PMID: 19888305 [PubMed - as supplied by publisher]
  • Bosnakovski D, Daughters RS, Xu Z, Slack JM, Kyba M. Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats. PLoS One. 2009 Sep 16;4(9):e7003.PMID: 19756142 [PubMed - in process]
  • de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat. 2009 Jul 14. [Epub ahead of print] PMID: 19728363 [PubMed - as supplied by publisher]
  • Ostlund C, Guan T, Figlewicz DA, Hays AP, Worman HJ, Gerace L, Schirmer EC. Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation. Biochem Biophys Res Commun. 2009 Aug 27. [Epub ahead of print]
    PMID: 19716805 [PubMed - as supplied by publisher]
  • Bodega B, Di Capua Ramirez G, Grasser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol. 2009 Jul 16;7(1):41. [Epub ahead of print] PMID: 19607661
  • Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet. 2009 Jul;5(7):e1000559. Epub 2009 Jul 10.
    PMID: 19593370
  • Wang ZQ, Wu ZY, Wang N, Lin MT, Murong SX. Zhonghua Yi Xue Za Zhi. Characteristics of gene structure in facioscapulohumeral muscular dystrophy-related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population . 2009 Feb 10;89(5):304-9. Chinese.
  • Mostacciuolo ML, Pastorello E, Vazza G, Miorin M, Angelini C, Tomelleri G, Galluzzi G, Trevisan CP. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet. 2009 Mar 23. [Epub ahead of print]
  • Hanel ML, Wuebbles RD, Jones PL. Muscular dystrophy candidate gene FRG1 is critical for muscle development. Dev Dyn. 2008 Dec 18. [Epub ahead of print]
  • Pirozhkova I, Petrov A, Dmitriev P, Laoudj D, Lipinski M, Vassetzky Y. A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. PLoS ONE. 2008; 3:e3389.
  • Rudd MK, Endicott RM, Friedman C, Walker M, Young JM, Osoegawa K, Comparative Sequencing Program N, de Jong PJ, Green ED, Trask BJ. Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event. Genome Res. 2008 Oct 24; [Epub ahead of print]
  • Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, Simsek T, Garner HR, Agha-Mohammadi S, Tassin A, Coppée F, Belayew A, Perlingeiro RR, Kyba M. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 2008; 27(20):2766-79.
  • Bosnakovski D, Lamb S, Simsek T, Xu Z, Belayew A, Perlingeiro R, Kyba M. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp Neurol. 2008 Aug 6. [Epub ahead of print]
  • Davidovic L, Sacconi S, Bechara E, Delplace S, Allegra M, Desnuelle C, Bardoni B. Alteration of expression of muscle-specific isoforms of the Fragile X Related Protein 1 (FXR1P) in facio-scapulohumeral muscular distrophy patients. J Med Genet. 2008 Jul 15. [Epub ahead of print]
  • Bosnakovski D, Xu Z, Gang EJ, Galindo CL, Liu M, Simsek T, Garner HR, Agha-Mohammadi S, Tassin A, Coppée F, Belayew A, Perlingeiro RR, Kyba M.  An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 2008 Oct 2. [Epub ahead of print]
  • Tsumagari K, Qi L, Jackson K, Shao C, Lacey M, Sowden J, Tawil R, Vedanarayanan V, Ehrlich M. Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers. Nucleic Acids Res. 2008 Apr;36(7):2196-207. Epub 2008 Feb 16.
  • Barro M, Carnac G, Flavier S, Mercier J, Vassetzky Y, Laoudj-Chenivesse D. Myoblasts from affected and non affected FSHD muscles exhibit morphological differentiation defects. J Cell Mol Med. 2008 May 24.
  • Petrov A, Allinne J, Pirozhkova I, Laoudj D, Lipinski M, Vassetzky YS. A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res. 2008 Jan;18(1):39-45.
  • Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, Chen YW. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18157-62.
  • Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.
  • D'Antona G, Brocca L, Pansarasa O, Rinaldi C, Tupler R, Bottinelli R. Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy. J Physiol. 2007 Nov 1;584(Pt 3):997-1009.
  • de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. Neurology. 2007 Sep 4;69(10):1018-26.
  • Morosetti R, Mirabella M, Gliubizzi C, Broccolini A, Sancricca C, Pescatori M, Gidaro T, Tasca G, Frusciante R, Tonali PA, Cossu G, Ricci E. Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies. Stem Cells. 2007 Dec;25(12):3173-82. Epub 2007 Aug 30.
  • Clapp J, Mitchell LM, Bolland DJ, Fantes J, Corcoran AE, Scotting PJ, Armour JA, Hewitt JE. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2007 Aug;81(2):264-79.
  • Reed PW, Corse AM, Porter NC, Flanigan KM, Bloch RJ. Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. Exp Neurol. 2007 Jun;205(2):583-6.
  • Chen ZJ, Wang ZQ, Wu ZY, Wang N, Lin MT, Murong SX. Analysis of alleles 4qA and 4qB of the chromosome 4q subtelomere in Chinese Han Population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Jun;24(3):334-7.
  • Kowaljow V, Marcowycz A, Ansseau E, Conde CB, Sauvage S, Mattéotti C, Arias C, Corona ED, Nuñez NG, Leo O, Wattiez R, Figlewicz D, Laoudj-Chenivesse D, Belayew A, Coppée F, Rosa AL. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord. 2007 Aug;17(8):611-23
  • Osborne RJ, Welle S, Venance SL, Thornton CA, Tawil R. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology. 2007 Feb 20;68(8):569-77.
  • Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.
    Chromosoma. 2007 Apr;116(2):107-16. Epub 2006 Nov 28.
  • van Koningsbruggen S, Straasheijm KR, Sterrenburg E, de Graaf N, Dauwerse HG, Frants RR, van der Maarel SM. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Chromosoma. 2007 Feb;116(1):53-64.
  • Bodega B, Cardone MF, Müller S, Neusser M, Orzan F, Rossi E, Battaglioli E, Marozzi A, Riva P, Rocchi M, Meneveri R, Ginelli E. Evolutionary genomic remodelling of the human 4q subtelomere (4q35.2). BMC Evol Biol. 2007 Mar 14;7:39.
  • Rossi M, Ricci E, Colantoni L, Galluzzi G, Frusciante R, Tonali PA, Felicetti L. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure. BMC Med Genet. 2007 Mar 2;8:8.
  • Alexiadis V, Ballestas ME, Sanchez C, Winokur S, Vedanarayanan V, Warren M, Ehrlich M. RNAPol-ChIP analysis of transcription from FSHD-linked tandem repeats and satellite DNA. Biochim Biophys Acta. 2007 Jan;1769(1):29-40.
  • Deak KL, Lemmers RJ, Stajich JM, Klooster R, Tawil R, Frants RR, Speer MC, van der Maarel SM, Gilbert JR. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology. 2007 Feb 20;68(8):578-82.
  • Macaione V, Aguennouz M, Rodolico C, Mazzeo A, Patti A, Cannistraci E, Colantone L, Di Giorgio RM, De Luca G, Vita G. RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy. Acta Neurol Scand. 2007 Feb;115(2):115-21.
  • Celegato B, Capitanio D, Pescatori M, Romualdi C, Pacchioni B, Cagnin S, Viganò A, Colantoni L, Begum S, Ricci E, Wait R, Lanfranchi G, Gelfi C. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics. 2006 Oct;6(19):5303-21.
  • van der Kooi EL, de Greef JC, Wohlgemuth M, Frants RR, van Asseldonk RJ, Blom HJ, van Engelen BG, van der Maarel SM, Padberg GW. No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2006 Nov;16(11):766-9.
  • Thomas NS, Wiseman K, Spurlock G, MacDonald M, Ustek D, Upadhyaya M. A large patient study confirming that facioscapulohumeral muscular dystrophy FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. J Med Genet. 2007 Mar;44(3):215-8.
  • Petrov A, Pirozhkova I, Carnac G, Laoudj D, Lipinski M, Vassetzky YS. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts.
    Proc Natl Acad Sci U S A. 2006 May 2;103(18):6982-7.
  • Reed P, Porter NC, Strong J, Pumplin DW, Corse AM, Luther PW, Flanigan KM, Bloch RJ. Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy. Ann Neurol. 2006 Feb;59(2):289-97.
  • Tonini MM, Lemmers RJ, Pavanello RC, Cerqueira AM, Frants RR, van der Maarel SM, Zatz M. Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy. Hum Genet. 2006 Mar;119(1-2):23-8.
  • Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, Adami R, Angeletti B, Ciscato P, Pellegrino MA, Bottinelli R, Green MR, Tupler R. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
    Nature. 2006 Feb 23;439(7079):973-7.
  • van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol. 2005 Oct;58(4):569-76.
  • Vilquin JT, Marolleau JP, Sacconi S, Garcin I, Lacassagne MN, Robert I, Ternaux B, Bouazza B, Larghero J, Desnuelle C. Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients. Gene Ther. 2005 Nov;12(22):1651-62.
  • Bastress KL, Stajich JM, Speer MC, Gilbert JR. The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B. Neuromuscul Disord. 2005 Apr;15(4):316-20.
  • Belayew A. Functional study of a gene candidate for Landouzy-Dejerine muscular dystrophy. Bull Mem Acad R Med Belg. 2004;159(5-6):343-8; discussion 348-9.
  • Laoudj-Chenivesse D, Carnac G, Bisbal C, Hugon G, Bouillot S, Desnuelle C, Vassetzky Y, Fernandez A. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J Mol Med. 2005 Mar;83(3):216-24.
  • Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet. 2004 Nov;41(11):826-36.
  • Tam R, Smith KP, Lawrence JB. The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J Cell Biol. 2004 Oct 25;167(2):269-79.
  • Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2004 Dec;75(6):1124-30.
  • Dorobek M, Kabzinska D, Ryniewicz B, Fidzianska-Dolot A, Hausmanowa-Petrusewicz I. Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report. Neurol Neurochir Pol. 2004 Mar-Apr;38(2):83-8.
  • Wu ZY, Wang ZQ, Murong SX, Wang N. FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation. Neurology. 2004 Aug 10;63(3):581-3.
  • Clapp J, Bolland DJ, Hewitt JE. Genomic analysis of facioscapulohumeral muscular dystrophy. Brief Funct Genomic Proteomic. 2003 Oct;2(3):213-23.
  • Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, van der Maarel SM, Winokur ST. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? Hum Mol Genet. 2004 Sep 1;13(17):1857-71.
  • Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2004 Jul;75(1):44-53.
  • Yang F, Shao C, Vedanarayanan V, Ehrlich M. Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy. Chromosoma. 2004 May; 112(7):350-9.
  • Su QX, Zhang C, Zeng Y, Lu XL, Liu XR, Wang ZH, Zhu YZ. Translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2003 Oct;25(5):581-4.
  • Wohlgemuth M, Lemmers RJ, van der Kooi EL, van der Wielen MJ, van Overveld PG, Dauwerse H, Bakker E, Frants RR, Padberg GW, van der Maarel SM. Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology. 2003 Oct 14;61(7):909-13.
  • Winokur ST, Chen YW, Masny PS, Martin JH, Ehmsen JT, Tapscott SJ, van der Maarel SM, Hayashi Y, Flanigan KM. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet. 2003 Nov 15;12(22):2895-907.
  • Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum Mol Genet. 2003 Nov 15;12(22):2909-21.
  • Wang N, Wu ZY, Wang CD, Wang ZQ, Lin MT, Fang L, Murong SX. Mechanism of translocation between chromosomes 4q and 10q in facioscapulohumeral muscular dystrophy. Zhonghua Yi Xue Za Zhi. 2003 Apr 25;83(8):650-3.
  • Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul Disord. 2003 May;13(4):322-33.
  • Yip DJ, Picketts DJ. Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation. FEBS Lett. 2003 Feb 27;537(1-3):133-8.
  • Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet. 2002 Oct;32(2):235-6.
  • Matsumura T, Goto K, Yamanaka G, Lee JH, Zhang C, Hayashi YK, Arahata K. Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients. BMC Neurol. 2002 Aug 20;2:7.
  • Gabellini D, Green MR, Tupler R. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell. 2002 Aug 9;110(3):339-48.
  • Tsien F, Sun B, Hopkins NE, Vedanarayanan V, Figlewicz D, Winokur S, Ehrlich M. Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues. Mol Genet Metab. 2001 Nov;74(3):322-31.
  • van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ, Hewitt JE. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics. 2002 Feb;79(2):210-7.
  • Vandebrouck C, Imbert N, Constantin B, Duport G, Raymond G, Cognard C. Normal calcium homeostasis in dystrophin-expressing facioscapulohumeral muscular dystrophy myotubes. Neuromuscul Disord. 2002 Mar;12(3):266-72.
  • Sandri M, El Meslemani AH, Sandri C, Schjerling P, Vissing K, Andersen JL, Rossini K, Carraro U, Angelini C. Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment? J Neuropathol Exp Neurol. 2001 Mar;60(3):302-12.
  • van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet. 2000 Nov 22;9(19):2879-84.
  • Busse K, Köhler J, Stegmann K, Pongratz D, Koch MC, Schreiber H. An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord. 2000 Mar;10(3):178-81.
  • Saito A, Higuchi I, Nakagawa M, Saito M, Uchida Y, Inose M, Kasai T, Niiyama T, Fukunaga H, Arimura K, Osame M. An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2000 Apr;23(4):490-7.
  • van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
    Am J Hum Genet. 2000 Jan;66(1):26-35.
  • Tupler R, Perini G, Pellegrino MA, Green MR. Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy. Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12650-4.
  • Stout K, van der Maarel S, Frants RR, Padberg GW, Ropers HH, Haaf T. Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease? Chromosome Res. 1999;7(5):323-9.
  • van Geel M, Heather LJ, Lyle R, Hewitt JE, Frants RR, de Jong PJ. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.
    Genomics. 1999 Oct 1;61(1):55-65.
  • Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, Padberg GW, Frants RR, Hewitt JE, Collen D, Belayew A. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene. 1999 Aug 5;236(1):25-32.
  • Bouju S, Piétu G, Le Cunff M, Cros N, Malzac P, Pellissier JF, Pons F, Léger JJ, Auffray C, Dechesne CA. Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes. Neuromuscul Disord. 1999 Jan;9(1):3-10.
  • Ding H, Beckers MC, Plaisance S, Marynen P, Collen D, Belayew A. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements. Hum Mol Genet. 1998 Oct;7(11):1681-94
  • .Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet. 1998 Aug;7(8):1207-14.
  • Grewal PK, Bolland DJ, Todd LC, Hewitt JE. High-resolution mapping of mouse chromosome 8 identifies an evolutionary chromosomal breakpoint. Mamm Genome. 1998 Aug;9(8):603-7.
  • Grewal PK, van Deutekom JC, Mills KA, Lemmers RJ, Mathews KD, Frants RR, Hewitt JE. The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8. Mamm Genome. 1997 Jun;8(6):394-8.
  • Nakagawa M, Matsuzaki T, Higuchi I, Fukunaga H, Inui T, Nagamitsu S, Yamada H, Arimura K, Osame M. Facioscapulohumeral muscular dystrophy: clinical diversity and genetic abnormalities in Japanese patients. Intern Med. 1997 May;36(5):333-9.
  • van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet. 1996 Dec;5(12):1997-2003.
  • Winokur ST, Bengtsson U, Vargas JC, Wasmuth JJ, Altherr MR, Weiffenbach B, Jacobsen SJ. The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region. Hum Mol Genet. 1996 Oct;5(10):1567-75.
  • Clark LN, Koehler U, Ward DC, Wienberg J, Hewitt JE. Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family. Chromosoma. 1996 Sep;105(3):180-9.
  • van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet. 1996 May;5(5):581-90.
  • Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet. 1996 May;33(5):366-70.
  • Mills KA, Mathews KD, Scherpbier-Heddema T, Schelper RL, Schmalzel R, Bailey HL, Nadeau JH, Buetow KH, Murray JC. Genetic mapping near the myd locus on mouse chromosome 8. Mamm Genome. 1995 Apr;6(4):278-80.
  • Lyle R, Wright TJ, Clark LN, Hewitt JE. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. Genomics. 1995 Aug 10;28(3):389-97.
  • Mathews KD, Rapisarda D, Bailey HL, Murray JC, Schelper RL, Smith R. Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol. 1995 Jul;54(4):601-6.
  • Upadhyaya M, Osborn M, Maynard J, Altherr M, Ikeda J, Harper PS. Towards the finer mapping of facioscapulohumeral muscular dystrophy at 4q35: construction of a laser microdissection library. Am J Med Genet. 1995 Jun 19;60(3):244-51.
  • Goto K, Song MD, Lee JH, Arahata K. Genetic analysis of facioscapulohumeral muscular dystrophy (FSHD). Rinsho Shinkeigaku. 1995 Dec;35(12):1416-8.
  • Mathews KD, Mills KA, Bailey HL, Schelper RL, Murray JC. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q. Muscle Nerve. 1995;2:S98-102.
  • Lee JH, Goto K, Matsuda C, Arahata K. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve. 1995;2:S6-13.
  • Bakker E, Wijmenga C, Vossen RH, Padberg GW, Hewitt J, van der Wielen M, Rasmussen K, Frants RR. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve. 1995;2:S39-44.
  • Lee JH, Goto K, Sahashi K, Nonaka I, Matsuda C, Arahata K. Cloning and mapping of a very short (10-kb) EcoRI fragment associated with facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve. 1995;2:S27-31.
  • van Deutekom JC, Hofker MH, Romberg S, van Geel M, Rommens J, Wright TJ, Hewitt JE, Padberg GW, Wijmenga C, Frants RR. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve. 1995;2:S19-26.
  • Wijmenga C, Dauwerse HG, Padberg GW, Meyer N, Murray JC, Mills K, van Ommen GB, Hofker MH, Frants RR. Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35. Muscle Nerve. 1995;2:S14-8.
  • Deidda G, Cacurri S, Grisanti P, Vigneti E, Piazzo N, Felicetti L. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet. 1995;3(3):155-67.
  • Cacurri S, Deidda G, Piazzo N, Novelletto A, La Cesa I, Servidei S, Galluzzi G, Wijmenga C, Frants RR, Felicetti L. Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD). Hum Genet. 1994 Oct;94(4):367-74.
  • Bengtsson U, Altherr MR, Wasmuth JJ, Winokur ST. High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Hum Mol Genet. 1994 Oct;3(10):1801-5.
  • Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C, van Deutekom JC, Francis F, Sharpe PT, Hofker M, et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet. 1994 Aug;3(8):1287-95.
  • Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, et al. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res. 1994 May;2(3):225-34.
  • Weiffenbach B, Dubois J, Manning S, Ma NS, Schutte BC, Winokur ST, Altherr MR, Jacobsen SJ, Stanton VP Jr, Yokoyama K, et al. YAC contigs for 4q35 in the region of the facioscapulohumeral muscular dystrophy
    (FSHD) gene. Genomics. 1994 Feb;19(3):532-41.
  • van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a
    3.2 kb tandemly repeated unit. Hum Mol Genet. 1993 Dec;2(12):2037-42.
  • Griggs RC, Tawil R, Storvick D, Mendell JR, Altherr MR. Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology. 1993 Nov;43(11):2369-72
  • Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR. Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. Hum Mol Genet. 1993 Oct;2(10):1667-72.
  • Winokur ST, Schutte B, Weiffenbach B, Washington SS, McElligott D, Chakravarti A, Wasmuth JH, Altherr MR. A radiation hybrid map of 15 loci on the distal long arm of chromosome 4, the region containing the gene responsible for facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1993 Oct;53(4):874-80.
  • Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet. 1993 Oct;2(10):1673-8.
  • Wijmenga C, Frants RR, Hewitt JE, van Deutekom JC, van Geel M, Wright TJ, Padberg GW, Hofker MH, van Ommen GJ. Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 1993 Sep-Nov;3(5-6):487-91.
  • Wijmenga C, Winokur ST, Padberg GW, Skraastad MI, Altherr MR, Wasmuth JJ, Murray JC, Hofker MH, Frants RR. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Hum Genet. 1993 Sep;92(2):198-203.
  • Gilbert JR, Stajich JM, Wall S, Carter SC, Qiu H, Vance JM, Stewart CS, Speer MC, Pufky J, Yamaoka LH, et al. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1993 Aug;53(2):401-8.
  • Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR, et al. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. Nat Genet. 1993 Jun;4(2):165-9.
  • Passos-Bueno MR, Wijmenga C, Takata RE, Marie SK, Vainzof M, Pavanello RC, Hewitt JE, Bakker E, Carvalho A, Akiyama J, et al. No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers. Hum Mol Genet. 1993 May;2(5):557-62.
  • Haraguchi Y, Chung AB, Torroni A, Stepien G, Shoffner JM, Wasmuth JJ, Costigan DA, Polak M, Altherr MR, Winokur ST, et al. Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus. Genomics. 1993 May;16(2):479-85.
  • Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet. 1992 Sep;2(1):26-30.
  • Mills KA, Buetow KH, Xu Y, Ritty TM, Mathews KD, Bodrug SE, Wijmenga C, Balazs I, Murray JC. Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1992 Aug;51(2):432-9.
  • Mathews KD, Mills KA, Bosch EP, Ionasescu VV, Wiles KR, Buetow KH, Murray JC. Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35. Am J Hum Genet. 1992 Aug;51(2):428-31.
  • Gilbert JR, Stajich JM, Speer MC, Vance JM, Stewart CS, Yamaoka LH, Samson. F, Fardeau M, Potter TG, Roses AD, et al. Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1992 Aug;51(2):424-7.
  • Weiffenbach B, Bagley R, Falls K, Hyser C, Storvick D, Jacobsen SJ, Schultz P, Mendell J, Willems van Dijk K, Milner EC, et al. Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35. Am J Hum Genet. 1992 Aug;51(2):416-23.
  • Wijmenga C, Sandkuijl LA, Moerer P, van der Boorn N, Bodrug SE, Ray PN, Brouwer OF, Murray JC, van Ommen GJ, Padberg GW, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five
    polymorphic loci on chromosome 4q35-qter. Am J Hum Genet. 1992 Aug;51(2):411-5.
  • Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS. The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1992 Aug;51(2):404-10.
  • Sarfarazi M, Wijmenga C, Upadhyaya M, Weiffenbach B, Hyser C, Mathews K, Murray J, Gilbert J, Pericak-Vance M, Lunt P, et al. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet. 1992 Aug;51(2):396-403.
  • Weiffenbach B, Bagley RG, Falls K, Dubois J, Hyser C, Storvick D, Schultz P, Mendell JR, Milner EC, Jacobsen SJ, et al. Framework multipoint map of the long arm of human chromosome 4 and telomeric
    localization of the gene for FSHD. Mamm Genome. 1992;3(3):143-50.
  • Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner EC, Weber JL, van Ommen GB, Sandkuyl LA, et al. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by
    multipoint linkage analysis and in situ hybridization. Genomics. 1991 Apr;9(4):570-5.
  • Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 1990 Sep 15;336(8716):651-3.
  • Wijmenga C, Frants RR, Brouwer OF, van der Klift HM, Meera Khan P, Padberg GW. Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5. J Neurol Sci. 1990 Feb;95(2):225-9.
  • Lucotte G, Berriche S, Fardeau M. Linkage analysis of French families with facioscapulohumeral muscular dystrophy. J Med Genet. 1989 Aug;26(8):485-6.
  • Sarfarazi M, Upadhyaya M, Padberg G, Pericak-Vance M, Siddique T, Lucotte G, Lunt P. An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease. J Med Genet. 1989 Aug;26(8):481-4.
  • Lunt PW, Noades JG, Upadhyaya M, Sarfarazi M, Harper PS. Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14. J Neurol Sci. 1988 Dec;88(1-3):287-92.

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MOLECULAR DIAGNOSIS


  • Papanikos F, Skoulatou C, Sakellariou P, Kekou K, Christopoulos TK, Kanavakis E, Traeger-Synodinos J, Ioannou PC. A simplified approach for FSHD molecular testing. Clin Chim Acta. 2014 Feb 15;429:96-103. doi: 10.1016/j.cca.2013.11.032. Epub 2013 Dec 7. PMID: 24321734

  • Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet. 2012 Apr 6;90(4):628-35. PMID: 22482803 [PubMed - in process]
  • Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.J Med Genet. 2012 Jan 3. [Epub ahead of print] PMID: 22217918 [PubMed - as supplied by publisher]
  • Yanoov-Sharav M, Leshinsky-Silver E, Cohen S, Vinkler C, Michelson M, Lerman-Sagie T, Ginzberg M, Sadeh M, Lev D. J Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population.Genet Couns. 2011 Nov 23. [Epub ahead of print] PMID: 22109111 [PubMed - as supplied by publisher]
  • Nguyen K, Walrafen P, Bernard R, Attarian S, Chaix C, Vovan C, Renard E, Dufrane N, Pouget J, Vannier A, Bensimon A, Lévy N. Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy. Ann Neurol. 2011 Oct;70(4):627-33. doi: 10.1002/ana.22513. PMID: 22028222 [PubMed - in process]
  • Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population. Eur J Hum Genet. 2011 Jan;19(1):64-9. Epub 2010 Aug 25. PMID: 20736973 [PubMed - in process]
  • Spurlock G, Jim HP, Upadhyaya M. Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families. Muscle Nerve. 2010 Nov;42(5):820-1. PMID: 20928905 [PubMed - indexed for MEDLINE]
  • Barat-Houari M, Nguyen K, Bernard R, Fernandez C, Vovan C, Bareil C, Van Kien PK, Thorel D, Tuffery-Giraud S, Vasseur F, Attarian S, Pouget J, Girardet A, Lévy N, Claustres M. New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination? Eur J Hum Genet. 2009 Nov 25. [Epub ahead of print] PMID: 19935833 [PubMed - as supplied by publisher]
  • Ansseau E, Laoudj-Chenivesse D, Marcowycz A, Tassin A, Vanderplanck C, Sauvage S, Barro M, Mahieu I, Leroy A, Leclercq I, Mainfroid V, Figlewicz D, Mouly V, Butler-Browne G, Belayew A, Coppée F. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS One. 2009 Oct 15;4(10):e7482. PMID: 19829708 [PubMed - in process]
  • Xu X, Tsumagari K, Sowden J, Tawil R, Boyle AP, Song L, Furey TS, Crawford GE, Ehrlich M. DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2. Nucleic Acids Res. 2009 Oct 9. [Epub ahead of print] PMID: 19820107 [PubMed - as supplied by publisher
  • Angelucci F, Colantoni L. Facioscapulohumeral muscular dystrophy: Do neurotrophins play a role? Muscle Nerve. 2009 Oct 7. [Epub ahead of print] PMID: 19813193 [PubMed - as supplied by publisher]
  • Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S.Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. Eur J Hum Genet. 2009 Oct 7. [Epub ahead of print] PMID: 19809486 [PubMed - as supplied by publisher]
  • Claustres M. Epigenetics in facioscapulohumeral muscular dystrophy (FSHD). Hum Mutat. 2009 Sep 28;30(10):v. [Epub ahead of print] No abstract available. PMID: 19787630 [PubMed - as supplied by publisher]
  • Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C. Diagnostic challenges in facioscapulohumeral muscular dystrophy. Neurology. 2006 Oct 24;67(8):1464-6.
  • Goto K, Nishino I, Hayashi YK. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2006 Apr;16(4):256-61.
  • Kekou K, Fryssira H, Sophocleous C, Mavrou A, Manta P, Metaxotou C. Facioscapulohumeral muscular dystrophy molecular testing using a non radioactive protocol. Mol Cell Probes. 2005 Dec;19(6):422-4.
  • Buzhov BT, Lemmers RJ, Tournev I, van der Wielen MJ, Ishpekova B, Petkov R, Petrova J, Frants RR, Padberg GW, van der Maarel SM. Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2005 Jul;15(7):471-5.
  • Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments. Hum Genet. 2005
  • Mar;116(4):262-6.
  • Buzhkov BTs, Vuzharova R, Dimitrova V, Dimova I, Turnev I, van der Wielen M, van der Maarel S, Bakker B. First facioscapulohumeral muscular dystrophy prenatal diagnosis in a Bulgarian Family. Akush Ginekol (Sofiia). 2005;44(2):30-3.
  • Zhang Y, Forner J, Fournet S, Jeanpierre M. Improved characterization of FSHD mutations. Ann Genet. 2001 Apr-Jun;44(2):105-10.
  • Zeng Y, Zhang C, Su Q. Gene diagnosis of facioscapulohumeral muscular dystrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2001 Jun;18(3):213-5.
  • Flanigan KM, Coffeen CM, Sexton L, Stauffer D, Brunner S, Leppert MF. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord. 2001 Sep;11(6-7):525-9.
  • Vielhaber S, Jakubiczka S, Schröder JM, Sailer M, Feistner H, Heinze HJ, Wieacker P, Bettecken T. Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb. Muscle Nerve. 2002 Apr;25(4):540-8.
  • Upadhyaya M, Cooper DN. Molecular diagnosis of facioscapulohumeral muscular dystrophy. Expert Rev Mol Diagn. 2002 Mar;2(2):160-71.
  • Matsumura T, Etoh M, Goto K, Saito T, Nozaki S, Fujimura H, Shinno S. An ambiguous pedigree of facioscapulohumeral muscular dystrophy which showed double EcoRI/BlnI resistant short fragments. Rinsho Shinkeigaku. 2002 Apr;42(4):313-6.
  • Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology. 2003 Jul 22;61(2):178-83.
  • Zhang JL, Shen DG, Zhou PK, Liu JW, Jia N, Liu H, Wang HB, Yang SX, Frants RR. Gene diagnosis of facioscapulohumeral muscular dystrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Jun;20(3):232-4
  • Krasnianski M, Neudecker S, Eger K, Jakubiczka S, Zierz S. Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion. J Neurol. 2003 Sep;250(9):1084-7.
  • Krasnianski M, Eger K, Neudecker S, Jakubiczka S, Zierz S. Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletion. Arch Neurol. 2003 Oct;60(10):1421-
  • Tonini MM, Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der Maarel SM, Frants RR, Zatz M. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD)does not result in a more severe phenotype. J Med Genet. 2004 Feb;41(2):e17.
  • Su QX, Zhang C, Xie YM, Zeng Y, Liu XR, Lu XL, Zhu YZ. Application of the Bgl II-Bln I dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):245-7.
  • Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Somatic mosaicism in FSHD often goes undetected. Ann Neurol. 2004 Jun;55(6):845-50.
  • Felice KJ, North WA, Moore SA, Mathews KD. FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology. 2000 May 23;54(10):1927-31.
  • van der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J Med Genet. 1999 Nov;36(11):823-8.
  • Upadhyaya M, MacDonald M, Ravine D. Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD). Prenat Diagn. 1999 Oct;19(10):959-65.
  • Vitelli F, Villanova M, Malandrini A, Bruttini M, Piccini M, Merlini L, Guazzi G, Renieri A. Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy. Muscle Nerve. 1999 Oct;22(10):1437-41.
  • Galluzzi G, Deidda G, Cacurri S, Colantoni L, Piazzo N, Vigneti E, Ricci E, Servidei S, Merico B, Pachì A, Brambati B, Mangiola F, Tonali P, Felicetti L. Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease. Neuromuscul Disord. 1999 May;9(3):190-8.
  • Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology. 1999 Jun 10;52(9):1822-6.
  • Hsu YD, Kao MC, Shyu WC, Lin JC, Huang NE, Sun HF, Yang KD, Tsao WL. Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan. J Neurol Sci. 1997 Jul;149(1):73-9.
  • Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet. 1997 Jun;34(6):476-9.
  • Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maraschio P, Tiepolo L, Ferlini A. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J Med Genet. 1998 Sep;35(9):778-83.
  • Ohya K, Tachi N, Kozuka N, Kon S, Kikuchi K, Chiba S. Detection of the mutation in facioscapulohumeral muscular dystrophy patients. Acta Paediatr Jpn. 1997 Feb;39(1):92-6.
  • Köhler J, Rupilius B, Otto M, Bathke K, Koch MC. Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A)occurring predominantly in oogenesis. Hum Genet. 1996 Oct;98(4):485-90.
  • Deidda G, Cacurri S, Piazzo N, Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet. 1996 May;33(5):361-5.
  • Bakker E, Van der Wielen MJ, Voorhoeve E, Ippel PF, Padberg GW, Frants RR, Wijmenga C. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J Med Genet. 1996 Jan;33(1):29-35.
  • Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadhyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet. 1995 May;4(5):951-8.
  • Goto K, Lee JH, Matsuda C, Hirabayashi K, Kojo T, Nakamura A, Mitsunaga Y, Furukawa T, Sahashi K, Arahata K. DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations. Neuromuscul Disord. 1995 May;5(3):201-8.
  • Upadhyaya M, Maynard J, Osborn M, Jardine P, Harper PS, Lunt P. Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve. 1995;2:S45-9.
  • Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet. 1995 Jan;56(1):99-105.
  • Jardine PE, Koch MC, Lunt PW, Maynard J, Bathke KD, Harper PS, Upadhyaya M. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1). Arch Dis Child. 1994 Sep;71(3):221-7.
  • Wijmenga C, van Deutekom JC, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
    Genomics. 1994 Jan 1;19(1):21-6.
  • Lecky BR, MacKenzie JM, Read AP, Wilcox DE. X-linked and FSH dystrophies in one family. Neuromuscul Disord. 1991;1(4):275-8.

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TREATMENT

 

  • Aprile I, Bordieri C, Gilardi A, Lainieri Milazzo M, Russo G, De Santis F, Frusciante R, Iannaccone E, Erra C, Ricci E, Padua L. Balance and walking involvement in facioscapulohumeral dystrophy: a pilot study on the effects of custom lower limb orthoses. Eur J Phys Rehabil Med. 2012 Nov 9. [Epub ahead of print] PMID: 23138679 [PubMed - as supplied by publisher]
  • Attarian S, Salort-Campana E, Nguyen K, Behin A, Andoni Urtizberea J. Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011. Rev Neurol (Paris). 2012 Apr 30. [Epub ahead of print] PMID: 22551571 [PubMed - as supplied by publisher]
  • Wallace LM, Liu J, Domire JS, Garwick-Coppens SE, Guckes SM, Mendell JR, Flanigan KM, Harper SQ. RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy. Mol Ther. 2012 Apr 17. doi: 10.1038/mt.2012.68. [Epub ahead of print] PMID: 22508491 [PubMed - as supplied by publisher]
  • Kan HE, Scheenen TW, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A. Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy.
    Neuromuscul Disord. 2009 Mar 27. [Epub ahead of print]
  • Desnuelle C, Sacconi S, Marolleau JP, Larghero J, Vilquin JT. The possible place of autologus cell therapy in facioscapulohumeral muscular dystrophy. Bull Acad Natl Med. 2005 Apr;189(4):697-713; discussion 713-4.
  • Olsen DB, Ørngreen MC, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology. 2005 Mar 22;64(6):1064-6.
  • Matsumura T, Yokoe M, Nakamori M, Hattori N, Saito T, Nozaki S, Fujimura H, Shinno S. A clinical trial of creatine monohydrate in muscular dystrophy patients. Rinsho Shinkeigaku. 2004 Oct;44(10):661-6.
  • van der Kooi EL, Vogels OJ, van Asseldonk RJ, Lindeman E, Hendriks JC, Wohlgemuth M, van der Maarel SM, Padberg GW. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. 2004 Aug 24;63(4):702-8.
  • Kissel JT, McDermott MP, Mendell JR, King WM, Pandya S, Griggs RC, Tawil R; FSH-DY Group. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001 Oct 23;57(8):1434-40.
  • Kissel JT, McDermott MP, Natarajan R, Mendell JR, Pandya S, King WM, Griggs RC, Tawil R. Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. 1998 May;50(5):1402-6.
  • Sansone V, Boynton J, Palenski C. Use of gold weights to correct lagophthalmos in neuromuscular disease. Neurology. 1997 Jun;48(6):1500-3.
  • Tawil R, McDermott MP, Pandya S, King W, Kissel J, Mendell JR, Griggs RC. A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group. Neurology. 1997 Jan;48(1):46-9.
  • A prospective, quantitative study of the natural history of facioscapulohumeral muscular dystrophy (FSHD): implications for therapeutic trials. The FSH-DY Group. Neurology. 1997 Jan;48(1):38-46.

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SURGICAL SCAPULAR FIXATION

  • Copeland, SA, Levy, O, Warner, GC, Dodenhoff, RM. The shoulder in patients with muscular dystrophy. Clin Orthop 1999;368:80-91.
  • Giannini S, Faldini C, Pagkrati S et al. Fixation of winged scapula in facioscapulohumeral muscular dystrophy. Clin Med Res 2007;5:155-162.
  • Rhee YG, Ha JH. Long-term results of scapulothoracic arthrodesis of facioscapulohumeral muscular dystrophy. J Shoulder Elbow Surg 2006;15:445-450.
  • Mummery CJ. Copeland SA. Rose MR. Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev 2003;(3):CD003278.
  • Wolfe GI, Young PK, Nations SP, Burkhead WZ, McVey AL, Barohn RJ. Brachial plexopathy following thoracoscapular fusion in facioscapulohumeral muscular dystrophy. Neurology 2005;64:572-573.

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For more information, please contact the Fields Center FieldsCenter@urmc.rochester.edu