Rabi N. Tawil, M.D.

Rabi N. Tawil, M.D.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 673
Rochester, NY 14642

Office: (585) 275-2559
Fax: (585) 273-1255

Journal Articles

Showing all 124 journal articles available.

2014 Nov
Scully MA, Eichinger KJ, Donlin-Smith CM, Tawil R, Statland JM. "Restrictive lung involvement in facioscapulohumeral muscular dystrophy." Muscle & nerve. 2014 Nov; 50(5):739-43. Epub 2014 Sep 29.
2014 Oct 15
Yao Z, Snider L, Balog J, Lemmers RJ, Van Der Maarel SM, Tawil R, Tapscott SJ. "DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle." Human molecular genetics. 2014 Oct 15; 23(20):5342-52. Epub 2014 May 26.
2014 Oct
Cleland JC, Tawil R. "Post-exercise increment in compound muscle action potential amplitude in hyperkalemic periodic paralysis." Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 2014 Oct; 125(10):2134-5. Epub 2014 Feb 17.
2014 Aug
Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K. "Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs." Human mutation. 2014 Aug; 35(8):998-1010. Epub 2014 Jun 24.
2014 Aug
Statland J, Tawil R. "Facioscapulohumeral muscular dystrophy." Neurologic clinics. 2014 Aug; 32(3):721-8, ix. Epub 2014 May 15.
2014 May
Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC, . "The motor neuron response to SMN1 deficiency in spinal muscular atrophy." Muscle & nerve. 2014 May; 49(5):636-44.
2014 Apr
Statland JM, Tawil R. "Risk of functional impairment in Facioscapulohumeral muscular dystrophy." Muscle & nerve. 2014 Apr; 49(4):520-7. Epub 2014 Feb 10.
2014 Jan
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." Neuromuscular disorders : NMD. 2014 Jan; 24(1):79-85. Epub 2013 Aug 02.
Tawil R, van der Maarel SM, Tapscott SJ. "Facioscapulohumeral dystrophy: the path to consensus on pathophysiology." Skeletal muscle. 2014 4:12. Epub 2014 Jun 10.
2013 Nov
Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ. "DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis." PLoS genetics. 2013 Nov; 9(11):e1003947. Epub 2013 Nov 21.
2013 Oct 15
Darras BT, Tawil R. "Predicting hearing loss in facioscapulohumeral muscular dystrophy." Neurology. 2013 Oct 15; 81(16):1370-1. Epub 2013 Sep 16.
2013 Oct 3
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." American journal of human genetics. 2013 Oct 3; 93(4):744-51. Epub 2013 Sep 26.
2013 Oct
Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT. "Diagnostic odyssey of patients with myotonic dystrophy." Journal of neurology. 2013 Oct; 260(10):2497-504. Epub 2013 Jun 27.
2013 Aug
Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, Siskind C, Feely SM, Miller LJ, Barohn RJ, Smith P, Luebbe E, Wu X, Shy ME, . "High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial." JAMA neurology. 2013 Aug; 70(8):981-7.
2013 Jul
Griggs RC, Herr BE, Reha A, Elfring G, Atkinson L, Cwik V, McColl E, Tawil R, Pandya S, McDermott MP, Bushby K. "Corticosteroids in Duchenne muscular dystrophy: major variations in practice." Muscle & nerve. 2013 Jul; 48(1):27-31. Epub 2013 Apr 25.
2013 Apr
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." Neuromuscular disorders : NMD. 2013 Apr; 23(4):306-12. Epub 2013 Feb 11.
2013 Apr
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 genetics. 2013 Apr; 9(4):e1003415. Epub 2013 Apr 04.
2013 Mar 26
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 Mar 26; 80(13):1247-50. Epub 2013 Feb 27.
2013 Jan 22
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 22; 80(4):392-9. Epub 2013 Jan 02.
Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG. "Wnt/?-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells." Human molecular genetics. 2013 22(23):4661-72. Epub 2013 Jul 02.
Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C, , Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC, , Walker MG, Chen KS. "SMA-MAP: a plasma protein panel for spinal muscular atrophy." PloS one. 2013 8(4):e60113. Epub 2013 Apr 02.
Nakamori M, Sobczak K, Puwanant A, Welle S, Eichinger K, Pandya S, Dekdebrun J, Heatwole CR, McDermott MP, Chen T, Cline M, Tawil R, Osborne RJ, Wheeler TM, Swanson M, Moxley RT, Thornton CA. "Splicing biomarkers of disease severity in myotonic dystrophy." Annals of neurology. 2013 74(6):862-72.
Rose MR, . "188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands." Neuromuscular disorders : NMD. 2013 23(12):1044-55. Epub 2013 Aug 30.
2012 Oct 30
Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC, , . "Prospective cohort study of spinal muscular atrophy types 2 and 3." Neurology. 2012 Oct 30; 79(18):1889-97. Epub 2012 Oct 17.
2012 Oct
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." The American journal of pathology. 2012 Oct; 181(4):1387-401. Epub 2012 Aug 04.
2012 Oct
van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ. "Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation." Current opinion in neurology. 2012 Oct; 25(5):614-20.
2012 Jun 1
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 : official journal of the DNA Methylation Society. 2012 Jun 1; 7(6):579-84. Epub 2012 Jun 01.
2012 Mar
Hilbert JE, Kissel JT, Luebbe EA, Martens WB, McDermott MP, Sanders DB, Tawil R, Thornton CA, Moxley RT, . "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)." Contemporary clinical trials. 2012 Mar; 33(2):302-11. Epub 2011 Nov 26.
2012 Jan 17
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." Developmental cell. 2012 Jan 17; 22(1):38-51. Epub 2011 Dec 29.
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.
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." Nature genetics. 2012 44(12):1370-4. Epub 2012 Nov 11.
Johnson NE, Quinn C, Eastwood E, Tawil R, Heatwole CR. "Patient-identified disease burden in facioscapulohumeral muscular dystrophy." Muscle & nerve. 2012 46(6):951-3.
Benatar M, Sanders DB, Wolfe GI, McDermott MP, Tawil R. "Design of the efficacy of prednisone in the treatment of ocular myasthenia (EPITOME) trial." Annals of the New York Academy of Sciences. 2012 1275:17-22.
2011 Oct
Statland JM, Tawil R. "Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions." Current opinion in neurology. 2011 Oct; 24(5):423-8.
2011 Sep
. "A randomized, pilot trial of etanercept in dermatomyositis." Annals of neurology. 2011 Sep; 70(3):427-36. Epub 2011 Jun 17.
2011 Jun
Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, Constantinescu A, Sproule DM, Foley AR, Yang M, Tawil R, Chung W, Martens B, Montes J, O'Hagen J, Dunaway S, Flickinger JM, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Irvine C, Annis CL, Butler H, Caracciolo J, Montgomery M, Marra J, Koo B, De Vivo DC, , . "Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year." Archives of neurology. 2011 Jun; 68(6):779-86. Epub 2011 Feb 14.
2011 May
van der Maarel SM, Tawil R, Tapscott SJ. "Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence." Trends in molecular medicine. 2011 May; 17(5):252-8. Epub 2011 Feb 01.
Glanzman AM, O'Hagen JM, McDermott MP, Martens WB, Flickinger J, Riley S, Quigley J, Montes J, Dunaway S, Deng L, Chung WK, Tawil R, Darras BT, De Vivo DC, Kaufmann P, Finkel RS, , . "Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III." Journal of child neurology. 2011 26(12):1499-507. Epub 2011 Sep 21.
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 medical genomics. 2011 4:67. Epub 2011 Sep 27.
Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger J, Riley S, Quigley J, Dunaway S, O'Hagen J, Deng L, Chung WK, Tawil R, Darras BT, Yang M, Sproule D, De Vivo DC, Kaufmann P, Finkel RS, , . "Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)." Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 2011 23(4):322-6.
2010 Oct 26
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.
2010 Oct
Sadjadi R, Rose MR, . "What determines quality of life in inclusion body myositis?" Journal of neurology, neurosurgery, and psychiatry. 2010 Oct; 81(10):1164-6. Epub 2010 Jul 02.
2010 Oct
Stratigopoulos G, Lanzano P, Deng L, Guo J, Kaufmann P, Darras B, Finkel R, Tawil R, McDermott MP, Martens W, Devivo DC, Chung WK. "Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females." Archives of neurology. 2010 Oct; 67(10):1252-6.
2010 Oct
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 genetics. 2010 Oct; 6(10):e1001181. Epub 2010 Oct 28.
2010 Sep 24
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. "A unifying genetic model for facioscapulohumeral muscular dystrophy." Science. 2010 Sep 24; 329(5999):1650-3. Epub 2010 Aug 19.
2010 Sep
Personius KE, Jayaram A, Krull D, Brown R, Xu T, Han B, Burgess K, Storey C, Shah B, Tawil R, Welle S. "Grip force, EDL contractile properties, and voluntary wheel running after postdevelopmental myostatin depletion in mice." Journal of applied physiology. 2010 Sep; 109(3):886-94. Epub 2010 Jul 01.
2010 Jul
Tawil R, van der Maarel S, Padberg GW, van Engelen BG. "171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy." Neuromuscular disorders : NMD. 2010 Jul; 20(7):471-5.
2010 Jun
Erdos B, Cudykier I, Woods M, Basgut B, Whidden M, Tawil R, Cardounel AJ, Tümer N. "Hypertensive effects of central angiotensin II infusion and restraint stress are reduced with age." Journal of hypertension. 2010 Jun; 28(6):1298-306.
2010 Apr
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." European journal of human genetics : EJHG. 2010 Apr; 18(4):448-56. Epub 2009 Nov 04.
2010 Mar 9
Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery MJ, Sproule D, Tawil R, Chung WK, Darras BT, De Vivo DC, Kaufmann P, Finkel RS, . "Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy." Neurology. 2010 Mar 9; 74(10):833-8.
Kaufmann P, Annis C, Griggs RC, . "The authorship lottery: an impediment to research collaboration?" Annals of neurology. 2010 68(6):782-6.
2009 Oct
Welle S, Burgess K, Thornton CA, Tawil R. "Relation between extent of myostatin depletion and muscle growth in mature mice." American journal of physiology. Endocrinology and metabolism. 2009 Oct; 297(4):E935-40. Epub 2009 Aug 04.
2009 Oct
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." Human mutation. 2009 Oct; 30(10):1449-59.
2009 Aug 7
Welle S, Cardillo A, Zanche M, Tawil R. "Skeletal muscle gene expression after myostatin knockout in mature mice." Physiological genomics. 2009 Aug 7; 38(3):342-50. Epub 2009 Jun 09.
2009 Jul 1
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." Human molecular genetics. 2009 Jul 1; 18(13):2414-30. Epub 2009 Apr 09.
2009 Feb
Jackson CE, Gronseth G, Rosenfeld J, Barohn RJ, Dubinsky R, Simpson CB, McVey A, Kittrell PP, King R, Herbelin L, . "Randomized double-blind study of botulinum toxin type B for sialorrhea in ALS patients." Muscle & nerve. 2009 Feb; 39(2):137-43.
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." European journal of human genetics : EJHG. 2009 17(12):1615-24. Epub 2009 Oct 07.
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 research. 2009 37(22):7381-93.
Airey KJ, Etheridge SP, Tawil R, Tristani-Firouzi M. "Resuscitated sudden cardiac death in Andersen-Tawil syndrome." Heart rhythm : the official journal of the Heart Rhythm Society. 2009 6(12):1814-7. Epub 2009 Aug 29.
2008 Nov
Wolfe GI, Barohn RJ, Sanders DB, McDermott MP, . "Comparison of outcome measures from a trial of mycophenolate mofetil in myasthenia gravis." Muscle & nerve. 2008 Nov; 38(5):1429-33.
2008 Oct
Tawil R. "Facioscapulohumeral muscular dystrophy." Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2008 Oct; 5(4):601-6.
2008 Aug 5
. "A trial of mycophenolate mofetil with prednisone as initial immunotherapy in myasthenia gravis." Neurology. 2008 Aug 5; 71(6):394-9. Epub 2008 Apr 23.
2008 Aug
Burns TM, Conaway MR, Cutter GR, Sanders DB, . "Less is more, or almost as much: a 15-item quality-of-life instrument for myasthenia gravis." Muscle & nerve. 2008 Aug; 38(2):957-63.
2008 Aug
Mullins LL, Carpentier MY, Paul RH, Sanders DB, . "Disease-specific measure of quality of life for myasthenia gravis." Muscle & nerve. 2008 Aug; 38(2):947-56.
2008 May
Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR. "A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy." Annals of neurology. 2008 May; 63(5):561-71.
2008 Apr
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 research. 2008 Apr; 36(7):2196-207. Epub 2008 Feb 16.
2008 Jan
Pandya S, King WM, Tawil R. "Facioscapulohumeral dystrophy." Physical therapy. 2008 Jan; 88(1):105-13. Epub 2007 Nov 06.
Welle S, Tawil R, Thornton CA. "Sex-related differences in gene expression in human skeletal muscle." PloS one. 2008 3(1):e1385. Epub 2008 Jan 02.
2007 Oct
Flickinger J, O'Hagen JM, Quigley J, Glanzman AM, Riley S, McDermott MP, Sanborn E, Ryan PA, Irvine C, Flickinger J, Martens WB, Quigley J, Annis C, Riley S, Tawil R, Sanborn E, Oskoui M, Irvine C, Darras BT, Martens WB, Finkel RS, Annis C, De Vivo DC, Tawil R, Oskoui M, Darras BT, Finkel RS, De Vivo DC. "An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients." Neuromuscular disorders : NMD. 2007 Oct; 17(9-10):693-7. Epub 2007 Jul 19.
2007 Apr
Welle S, Bhatt K, Pinkert CA, Tawil R, Thornton CA. "Muscle growth after postdevelopmental myostatin gene knockout." American journal of physiology. Endocrinology and metabolism. 2007 Apr; 292(4):E985-91. Epub 2006 Dec 05.
2007 Apr
Sansone V, Tawil R. "Management and treatment of Andersen-Tawil syndrome (ATS)." Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2007 Apr; 4(2):233-7.
2007 Feb 20
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. Epub 2006 Dec 06.
2007 Feb 20
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. Epub 2007 Jan 17.
Tawil,R.; Cannon,S. C.;. "Neurologic channelopathies: evolving concepts and therapeutic challenges". Neurotherapeutics. 2007; 4(2): 173.
2006 Nov 28
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.
2006 Jul
Tawil R, Van Der Maarel SM. "Facioscapulohumeral muscular dystrophy." Muscle & nerve. 2006 Jul; 34(1):1-15.
2006 Jan
Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC, . "The primary periodic paralyses: diagnosis, pathogenesis and treatment." Brain : a journal of neurology. 2006 Jan; 129(Pt 1):8-17. Epub 2005 Sep 29.
2005 May 31
Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM. "Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype." Circulation. 2005 May 31; 111(21):2720-6. Epub 2005 May 23.
2005 May
Greenberg SA, Pinkus JL, Pinkus GS, Burleson T, Sanoudou D, Tawil R, Barohn RJ, Saperstein DS, Briemberg HR, Ericsson M, Park P, Amato AA. "Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis." Annals of neurology. 2005 May; 57(5):664-78.
2005 Apr
Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, Powers JM. "Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights." Journal of neuropathology and experimental neurology. 2005 Apr; 64(4):280-94.
2004 Nov 23
Venance SL, Jurkat-Rott K, Lehmann-Horn F, Tawil R. "SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide." Neurology. 2004 Nov 23; 63(10):1977.
2004 Nov 9
Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. "Correlating phenotype and genotype in the periodic paralyses." Neurology. 2004 Nov 9; 63(9):1647-55.
2004 Aug 24
. "Randomized pilot trial of high-dose betaINF-1a in patients with inclusion body myositis." Neurology. 2004 Aug 24; 63(4):718-20.
2004 Jan
Tawil R. "Facioscapulohumeral muscular dystrophy." Current neurology and neuroscience reports. 2004 Jan; 4(1):51-4.
Rose,M. R.; Tawil,R.;. "Drug treatment for facioscapulohumeral muscular dystrophy". Cochrane database of systematic reviews (Online : Update Software). 2004; (2)(2): CD002276. Link
2003 Jun 10
Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ. "PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome." Neurology. 2003 Jun 10; 60(11):1811-6.
2003 May
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." Neuromuscular disorders : NMD. 2003 May; 13(4):322-33.
Tawil, R. "Commentary: Facioscapulohumeral muscular dystrophy: Untangling a molecular enigma". Neurology. 2003; 61: 151. Link
2002 Nov
Tawil R, Griggs RC. "Inclusion body myositis." Current opinion in rheumatology. 2002 Nov; 14(6):653-7.
2002 Aug
Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)." The Journal of clinical investigation. 2002 Aug; 110(3):381-8.
2001 Nov 13
. "Randomized pilot trial of betaINF1a (Avonex) in patients with inclusion body myositis." Neurology. 2001 Nov 13; 57(9):1566-70.
2001 Oct 23
Kissel JT, McDermott MP, Mendell JR, King WM, Pandya S, Griggs RC, Tawil R, . "Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy." Neurology. 2001 Oct 23; 57(8):1434-40.
2001 May 18
Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ. "Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome." Cell. 2001 May 18; 105(4):511-9.
Tim RW, Gilbert JR, Stajich JM et al. "Clinical studies in non-chromosome 4-linked facioscapulohumeral muscular dystrophy". J Clinical Neuromuscular Disease. 2001; 3: 1-7. Link
2000 May
Forbes GB, Griggs RC, Moxley RT, Thornton CT, Tawil R. "K-40 and dual-energy X-ray absorptiometry estimates of lean weight compared. Normals and patients with neuromuscular disease." Annals of the New York Academy of Sciences. 2000 May; 904:111-4.
2000 Jan
Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC. "Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis." Annals of neurology. 2000 Jan; 47(1):46-53.
1999 Jun 15
Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ. "Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation." The Journal of neuroscience : the official journal of the Society for Neuroscience. 1999 Jun 15; 19(12):4762-71.
1999 Jun 10
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.
Tawil R. "Outlook for therapy in the muscular dystrophies." Seminars in neurology. 1999 19(1):81-6.
1998 May
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.
1998 Mar
Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. "Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium." Annals of neurology. 1998 Mar; 43(3):279-82.
1997 Sep
Sansone V, Griggs RC, Meola G, Ptácek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R. "Andersen's syndrome: a distinct periodic paralysis." Annals of neurology. 1997 Sep; 42(3):305-12.
1997 Jan
"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.
1997 Jan
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.
1997 Jan
Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptácek LJ. "Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis." Neuromuscular disorders : NMD. 1997 Jan; 7(1):33-8.
1996 Jun
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." Annals of neurology. 1996 Jun; 39(6):744-8.
1996 Mar
Griggs RC, Bender AN, Tawil R. "A puzzling case of periodic paralysis." Muscle & nerve. 1996 Mar; 19(3):362-4.
1995 Nov
Tawil R, Myers GJ, Weiffenbach B, Griggs RC. "Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus." Archives of neurology. 1995 Nov; 52(11):1069-72.
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. Supplement. 1995 2:S50-5.
1994 Aug
Haverkamp LJ, Smith RG, Appel SH. "Trial of immunosuppression in amyotrophic lateral sclerosis using total lymphoid irradiation." Annals of neurology. 1994 Aug; 36(2):253-4.
1994 Aug
Ptá?ek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F. "Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis." Neurology. 1994 Aug; 44(8):1500-3.
1994 Jun 17
Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieci?ski H, McManis PG, Santiago L, Moore M, Fouad G. "Dihydropyridine receptor mutations cause hypokalemic periodic paralysis." Cell. 1994 Jun 17; 77(6):863-8.
1994 Mar
Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC. "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features." Annals of neurology. 1994 Mar; 35(3):326-30.
1994 Mar
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." Physical therapy. 1994 Mar; 74(3):253-63.
1994 Mar
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.
1994 Jan
Rifai Z, Klitzke M, Tawil R, Kazee AM, Shanske S, DiMauro S, Griggs RC. "Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction." Archives of neurology. 1994 Jan; 51(1):90-4.
1993 Nov
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.
1993 Jun
Weiffenbach B, Dubois J, Storvick D, Tawil R, Jacobsen SJ, Gilbert J, Wijmenga C, Mendell JR, Winokur S, Altherr MR. "Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events." Nature genetics. 1993 Jun; 4(2):165-9.
1993 Jun
Tawil R, Moxley RT, Griggs RC. "Acetazolamide-induced nephrolithiasis: implications for treatment of neuromuscular disorders." Neurology. 1993 Jun; 43(6):1105-6.
1993 Feb
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.
Tawil R, Storvick D, Weiffenbach B, Altherr MR, Feasby TE, Griggs RC. "Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy." Human mutation. 1993 2(6):492-4.
1992 Feb
Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. "Linkage of atypical myotonia congenita to a sodium channel locus." Neurology. 1992 Feb; 42(2):431-3.
1991 Nov 29
Ptácek LJ, George AL, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. "Identification of a mutation in the gene causing hyperkalemic periodic paralysis." Cell. 1991 Nov 29; 67(5):1021-7.
1983 Jun 13
Tawil RN, Saadé NE, Bitar M, Jabbur SJ. "Polysensory interactions on single neurons of cat inferior colliculus." Brain research. 1983 Jun 13; 269(1):149-52.


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Tawil R, Mankodi A. "Periodic paralyses and associated disorders". Neurobase - in Medlink CD ROM (updated yearly 2002-2004). Gilman S, Goldstein GW, Waxman SG. San Diego: Arbor Publishing, 2004.
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Tawil R. "Facioscapulohumeral Dystrophy". The Molecular and Genetic Basis of Neurologic and Psychiatric Disease. Rosenburg RN, Prusiner SB, DiMauro S, Barchi RL, Nestler EJ. Philadelphia PA: Butterworth Heinemann, 2003. 519-525
Renner DR, Tawil R, Tristani-Firouzi M, Ptacek L. "KCNJ2 (KIR2.1) and the Andersen Syndrome". Inborn Errors of Development. Epstein CJ, Erickson RP, Wynshaw-Boris A. : Oxford University Press, 2003.
Tawil R. "Periodic Paralysis". Current Therapy in Neurologic Disease. Richard T. Johnson, John W. Griggin, Justin C. St. Louis: Mosby, 2002. 422-424
Tawil R. "Facioscapulohumeral muscular dystrophy (FSHD)". Neuromuscular Disorders in Clinical Practice. Katirji B, Kaminski HJ, Preston DC, Ruff RL, Shapiro BE. Woburn, MA: Butterworh Heinemann, 2002. 1072-1077
Tawil R. "The periodic paralyses: hyperkalaemic and hypokalemic paralysis". Channelopathies. Rose MR; Griggs RC. Oxford, Woburn: Butterworth-Heiinemann, 2001. 158-166
Tawil R, Griggs RC. "Facioscapulohumeral muscular dystrophy". Disorders of Voluntary Muscle. Karpati G, Hilton-Jones D, Griggs RC. Cambridge: Cambridge University Press, 2001. 464-470
Tawil R, Griggs RC, Rose M. "Channelopathies". Neurogenetics. Pulst Stefan M.. : EA Davis Company, 2000. 45-60
Moxley III RT, Tawil R, Thornton CA. "Channelopathies: myotonic disorders and periodic paralysis". Pediatric Neurology. Swaiman KF and Ashwal S. St. Louis: Mosby, 1999. 1299-1310
Tawil R, Griggs RC. "Facioscapulohumeral muscular dystrophy". The Molecular and Genetic Basis of Neurological Disease. Rosenberg RN. : Butterworth-Heinemann Publishers, 1997. 931-938
Griggs RC, Tawil R, Brown RH, et al. "Implications of molecular defects for classification & tx of periodic paralysis". Recent Advances in Clinical Neurophysiology. Kimura J and Shibasaki H. : Elsevier Science B.V, 1996. 160-169
Tawil R, Griggs RC. "Hypokalemic periodic paralysis". Handbook of Muscle Diseases. Lane RJM. Basel: Marcel Dekker, 1996. 329-337
Moxley RT; Griggs RC; Tawil R. "Myotonic Disorders". Current Neurology. Appel SH. Chicago: Mosby Year Book, 1995. 1-28