Emma Ciafaloni, M.D.

Emma Ciafaloni, M.D.

Contact Information

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

Office: (585) 275-4568
Fax: (585) 273-1255
Administrative: (585) 275-2559

Journal Articles

Showing all 62 journal articles available.

2015 Sep
James KA, Cunniff C, Apkon SD, Mathews K, Lu Z, Holtzer C, Pandya S, Ciafaloni E, Miller L. "Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy." Journal of pediatric orthopedics. 2015 Sep; 35(6):640-4.
2015 Jun 4
Pandya SK, Campbell KA, Andrews JG, Meaney FJ, Ciafaloni E. "Health services received by individuals with Duchenne/Becker muscular dystrophy." Muscle & nerve. 2015 Jun 4; Epub 2015 Jun 04.
2015 Apr 21
Snyder Y, Donlin-Smith C, Snyder E, Pressman E, Ciafaloni E. "The course and outcome of pregnancy in women with nondystrophic myotonias." Muscle & nerve. 2015 Apr 21; Epub 2015 Apr 21.
2015 Mar
Romitti PA, Zhu Y, Puzhankara S, James KA, Nabukera SK, Zamba GK, Ciafaloni E, Cunniff C, Druschel CM, Mathews KD, Matthews DJ, Meaney FJ, Andrews JG, Conway KM, Fox DJ, Street N, Adams MM, Bolen J, . "Prevalence of Duchenne and Becker muscular dystrophies in the United States." Pediatrics. 2015 Mar; 135(3):513-21. Epub 2015 Feb 16.
2015 Feb
Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM. "Cystic fibrosis newborn screening: a model for neuromuscular disease screening?" Annals of neurology. 2015 Feb; 77(2):189-97. Epub 2014 Dec 13.
2014 Nov
Imbornoni L, Price ET, Andrews J, Meaney FJ, Ciafaloni E, Cunniff C. "Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy." American journal of medical genetics. Part A. 2014 Nov; 164A(11):2769-74. Epub 2014 Aug 14.
2013 Nov 12
Peay HL, Scully MA, Cwik VA, Ciafaloni E, Griggs RC. "Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?" Neurology. 2013 Nov 12; 81(20):1802.
2013 Apr 2
Medeiros MO, Behrend C, King W, Sanders J, Kissel J, Ciafaloni E. "Fat embolism syndrome in patients with Duchenne muscular dystrophy." Neurology. 2013 Apr 2; 80(14):1350-2. Epub 2013 Mar 20.
2013 Apr
Statland JM, Ciafaloni E. "Myasthenia gravis: Five new things." Neurology. Clinical practice. 2013 Apr; 3(2):126-133.
2013 Feb 5
Scully MA, Cwik VA, Marshall BC, Ciafaloni E, Wolff JM, Getchius TS, Griggs RC. "Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?" Neurology. 2013 Feb 5; 80(6):583-9.
2013 Jan
Nabukera SK, Romitti PA, Caspers KM, Street N, Cunniff C, Mathews KD, Fox DJ, Puzhankara S, Ciafaloni E, James KA, Su Y, . "Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy." American journal of medical genetics. Part A. 2013 Jan; 161A(1):70-5. Epub 2012 Dec 13.
Hehir MK, Logigian E, Raja Rayan DL, Ciafaloni E. "Double trouble in a patient with myotonia." BMJ case reports. 2013 2013Epub 2013 Feb 14.
2012 Oct 3
Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone VA, Salajegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG, . "Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial." JAMA. 2012 Oct 3; 308(13):1357-65.
2012 Jun
Nabukera SK, Romitti PA, Campbell KA, Meaney FJ, Caspers KM, Mathews KD, Hockett Sherlock SM, Puzhankara S, Cunniff C, Druschel CM, Pandya S, Matthews DJ, Ciafaloni E, Starnet M. "Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy." Journal of child neurology. 2012 Jun; 27(6):734-40. Epub 2011 Dec 07.
Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL. "Introduction for myasthenia gravis and related disorders." Annals of the New York Academy of Sciences. 2012 1274:vii-viii.
Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL. "Introduction for Myasthenia Gravis and Related Disorders." Annals of the New York Academy of Sciences. 2012 1275:vii-viii.
2011 Nov
Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C. "Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy." Genetics in medicine : official journal of the American College of Medical Genetics. 2011 Nov; 13(11):942-7.
2010 Nov
Matthews DJ, James KA, Miller LA, Pandya S, Campbell KA, Ciafaloni E, Mathews KD, Miller TM, Cunniff C, Meaney FJ, Druschel CM, Romitti PA, Fox DJ. "Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy." Journal of child neurology. 2010 Nov; 25(11):1319-24. Epub 2010 Mar 05.
2010 Sep
Moxley RT, Pandya S, Ciafaloni E, Fox DJ, Campbell K. "Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management." Journal of child neurology. 2010 Sep; 25(9):1116-29. Epub 2010 Jun 25.
2010 Sep
Mathews KD, Cunniff C, Kantamneni JR, Ciafaloni E, Miller T, Matthews D, Cwik V, Druschel C, Miller L, Meaney FJ, Sladky J, Romitti PA. "Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy." Journal of child neurology. 2010 Sep; 25(9):1098-102.
2010 Jan
Kwon JB, Kleiner A, Ishida K, Godown J, Ciafaloni E, Looney RJ. "Hydroxychloroquine-induced myopathy." Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. 2010 Jan; 16(1):28-31.
2009 Oct 16
. "Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007." MMWR. Morbidity and mortality weekly report. 2009 Oct 16; 58(40):1119-22.
2009 Sep
Ciafaloni E, Fox DJ, Pandya S, Westfield CP, Puzhankara S, Romitti PA, Mathews KD, Miller TM, Matthews DJ, Miller LA, Cunniff C, Druschel CM, Moxley RT. "Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)." The Journal of pediatrics. 2009 Sep; 155(3):380-5. Epub 2009 Apr 25.
2009 Apr
Cunniff C, Andrews J, Meaney FJ, Mathews KD, Matthews D, Ciafaloni E, Miller TM, Bodensteiner JB, Miller LA, James KA, Druschel CM, Romitti PA, Pandya S. "Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy." Journal of child neurology. 2009 Apr; 24(4):425-30. Epub 2008 Dec 12.
2009 Apr
Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. "Newborn screening for Krabbe disease: the New York State model." Pediatric neurology. 2009 Apr; 40(4):245-52; discussion 253-5.
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 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 Jun 19
Groh WJ, Groh MR, Saha C, Kincaid JC, Simmons Z, Ciafaloni E, Pourmand R, Otten RF, Bhakta D, Nair GV, Marashdeh MM, Zipes DP, Pascuzzi RM. "Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1." The New England journal of medicine. 2008 Jun 19; 358(25):2688-97.
2008 Mar
Ciafaloni E, Moxley RT. "Treatment options for Duchenne muscular dystrophy." Current treatment options in neurology. 2008 Mar; 10(2):86-93.
2008 Jan 15
Ciafaloni E, Mignot E, Sansone V, Hilbert JE, Lin L, Lin X, Liu LC, Pigeon WR, Perlis ML, Thornton CA. "The hypocretin neurotransmission system in myotonic dystrophy type 1." Neurology. 2008 Jan 15; 70(3):226-30.
Heatwole C, Ciafaloni E. "Mycophenolate mofetil for myasthenia gravis: a clear and present controversy." Neuropsychiatric disease and treatment. 2008 4(6):1203-9.
2007 Apr
Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT, Thornton CA. "Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy." Muscle & nerve. 2007 Apr; 35(4):479-85.
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 Nov
Miller LA, Romitti PA, Cunniff C, Druschel C, Mathews KD, Meaney FJ, Matthews D, Kantamneni J, Feng ZF, Zemblidge N, Miller TM, Andrews J, Fox D, Ciafaloni E, Pandya S, Montgomery A, Kenneson A. "The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology." Birth defects research. Part A, Clinical and molecular teratology. 2006 Nov; 76(11):793-7.
Miller LA, Romitti PA, Cunniff C, Druschel C, Mathews KD, Meaney FJ, Matthews D, Kantamneni J, Feng ZF, Zemblidge N, Miller TM, Andrews J, Fox D, Ciafaloni E, Pandya S, Montgomery A, Kenneson A. "The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) -Surveillance Methodology". Surveillance Methodology. Birth Defects Res A Clin Mol Teratol. 2006; 76(11): 793-7. Link
Ciafaloni E. "Mycophenolate mofetil and myasthenia gravis." Lupus. 2005 14 Suppl 1:s46-9.
2004 Nov
Ciafaloni E, Massey JM. "Myasthenia gravis and pregnancy." Neurologic clinics. 2004 Nov; 22(4):771-82.
2004 Jun
Cagliani R, Sironi M, Ciafaloni E, Bardoni A, Fortunato F, Prelle A, Serafini M, Bresolin N, Comi GP. "An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype." Human genetics. 2004 Jun; 115(1):13-8. Epub 2004 Apr 30.
2004 Mar
Ciafaloni E, Massey JM. "The management of myasthenia gravis in pregnancy." Seminars in neurology. 2004 Mar; 24(1):95-100.
2003 Nov 25
Meriggioli MN, Ciafaloni E, Al-Hayk KA, Rowin J, Tucker-Lipscomb B, Massey JM, Sanders DB. "Mycophenolate mofetil for myasthenia gravis: an analysis of efficacy, safety, and tolerability." Neurology. 2003 Nov 25; 61(10):1438-40.
2003 Sep
Mihovilovic M, Ciafaloni E, Butterworth-Robinette J, Jin JP, Massey J, Sanders DB. "Antibodies in sera of patients with late-onset myasthenia gravis recognize the PEVK domain of titin." Annals of the New York Academy of Sciences. 2003 Sep; 998:351-5.
2002 Sep 15
Gibbs JW, Ciafaloni E, Radtke RA. "Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy." Sleep. 2002 Sep 15; 25(6):662-5.
2002 Sep
Ciafaloni E, Sanders DB. "Treatment of myasthenia gravis: current practice and future directions." Expert review of neurotherapeutics. 2002 Sep; 2(5):743-8.
2002 Jan
Ciafaloni E, Sanders DB. "Advances in myasthenia gravis." Current neurology and neuroscience reports. 2002 Jan; 2(1):89-95.
Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I. "Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy." Neurology. 2002 59(11):1689-93.
Ciafaloni E, and Sanders DB. "Treatment of Myasthenia Gravis: current practice and future directions". Expert Rev. Neurotherapeutics. 2002; 2(5): 743-748. Link
2001 Feb 15
Sempowski G, Thomasch J, Gooding M, Hale L, Edwards L, Ciafaloni E, Sanders D, Massey J, Douek D, Koup R, Haynes B. "Effect of thymectomy on human peripheral blood T cell pools in myasthenia gravis." The Journal of immunology : official journal of the American Association of Immunologists. 2001 Feb 15; 166(4):2808-17.
2001 Jan 9
Ciafaloni E, Massey JM, Tucker-Lipscomb B, Sanders DB. "Mycophenolate mofetil for myasthenia gravis: an open-label pilot study." Neurology. 2001 Jan 9; 56(1):97-9.
2000 Aug 8
Ciafaloni E, Nikhar NK, Massey JM, Sanders DB. "Retrospective analysis of the use of cyclosporine in myasthenia gravis." Neurology. 2000 Aug 8; 55(3):448-50.
1995 Nov
Comi GP, Ciafaloni E, de Silva HA, Prelle A, Bardoni A, Rigoletto C, Robotti M, Bresolin N, Moggio M, Fortunato F. "A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient." Human molecular genetics. 1995 Nov; 4(11):2171-4.
1993 Jun
Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. "Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation")." Neurology. 1993 Jun; 43(6):1200-6.
1993 Mar
Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S. "Maternally inherited Leigh syndrome." The Journal of pediatrics. 1993 Mar; 122(3):419-22.
1993 Mar
Mosewich RK, Donat JR, DiMauro S, Ciafaloni E, Shanske S, Erasmus M, George D. "The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke." Archives of neurology. 1993 Mar; 50(3):275-8.
1992 Sep
Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA. "Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA." Journal of the neurological sciences. 1992 Sep; 111(2):222-6.
1992 Apr
Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C. "MELAS: clinical features, biochemistry, and molecular genetics." Annals of neurology. 1992 Apr; 31(4):391-8.
Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, DiMauro S, Angelini C. "Correlation between clinical and molecular features in two MELAS families." Journal of the neurological sciences. 1992 113(2):222-9.
1991 Oct
Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S. "Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome." Neurology. 1991 Oct; 41(10):1663-4.
1991 Jun
Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S. "Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes." Annals of neurology. 1991 Jun; 29(6):680-3.
Mariani C, Bresolin N, Farina E, Moggio M, Ferrante C, Ciafaloni E, Sertorelli S, Ciccone A, Scarlato G. "Muscle biopsy in Alzheimer's disease: morphological and biochemical findings." Clinical neuropathology. 1991 10(4):171-6.
Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E, Cossutta E, Binda A, Gallanti A, Gabellini S. "Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial." Journal of the neurological sciences. 1990 100(1-2):70-8.


Emma Ciafaloni. "Myasthenia Gravis". Neuromuscular Disorders. Rabi n. Tawil and Shannon Venance. : Wiley-Blackwell, 2011.
Ciafaloni E.. "Neuromuscular Junction Disease". Andreoli and Carpenter's Cecil Essentials of Medicine. : Saunders Elsevier, 2010. 1191-1193
Logigian E. and Ciafaloni E.. "Electrophysiological evaluation of suspected myopathy.". Disorders of Voluntary Muscle. : Karpati, Hilton-Jones, Bushby, Griggs, 2010. 81-92
Ciafaloni E.. "Myasthenia Gravis". Pediatric Clinical Advisor. : Mosby Elsevieer, 2007.
Ciafaloni E.. "Muscular Dystrophy". Pediatric Clinical Advisor. : Mosby Elsevier, 2007.
Moxley RT and Ciafaloni E.. "Muscular Dystrophy s". American Academy of Pediatrics, Textbook of Pediatric Care. : -, 2006.
Ciafaloni E, and Arnaudo E. "Mitochondrial diseases". Clinical Neurophysiology of disorders of muscle and neuromuscular junction. Stalberg E. : Elsevier, 2003.
Ciafaloni E, Massey JM. "Myasthenia Gravis and Pregnancy". Neurologic Disorders in Pregnancy. Washington JM. : Parthenon Publishing, 2003.
Ciafaloni E, and Massey JM. "Repetitive Stimulation Tests". Clinical Evaluation and Diagnostic Tests for Neuromuscular Disorders. T Bertorini. Woburn, MA: Butterworth-Heinemann, 2002.
Bresolin N, Moroni I, Ciafaloni E, Moggio M, Meola G, Gatti A, and Scarlato G. "Familiar cases of mitochondrial myopathies: mtDNA deletions and genetic analysis". unknown. JW Gorrod, O Albano, E Ferrari and S Papa. : Chapman and Hall Ltd. of London, 1990.