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Emma Ciafaloni

TitleAssociate Professor
InstitutionSchool of Medicine and Dentistry
DepartmentNeurology
AddressUniversity of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 673
Rochester NY 14642
Other Positions
TitleAssociate Professor
InstitutionSchool of Medicine and Dentistry
DepartmentPediatrics

 
 Awards And Honors
2000     Pharmacia & Upjohn Research Award: for outstanding research in Myasthenia Gravis
2009     Best Doctors  | America's Best Doctors
 
 Overview
Dr. Ciafaloni is an Associate Professor of Neurology and Pediatrics at the University of Rochester, in Rochester, NY. She is the Program Director of the Neuromuscular Medicine Fellowship Program and Co-Director of the MDA Clinic there.
She graduated from Medical School at the Universita' Statale di Milano, in Milano, Italy.
She trained at Columbia University in mitochondrial diseases with Dr. Salvatore Di Mauro and his group, then at Duke University where she completed her Neurology Residency and EMG Fellowships with Dr. Janice Massey and Donald Sanders and remained on the Faculty until 2002 when she accepted a position at the University of Rochester.
Her current commitments include: clinical trials in periodic paralyses, myasthenia gravis, dermatomyositis, FSHD, Duchenne and myotonic dystrophy; teaching Neuromuscular and EMG fellows; attending in the EMG laboratory; diagnosis and care of patients with neuromuscular diseases, especially with ALS, myasthenia gravis, Duchenne, and spinal muscular atrophy.
She has a clinical research interest in the course and outcome of pregnancy in women with muscular dystrophy and sleep disorders in neuromuscular diseases.
She has been involved in clinical care, research, education and advocacy related to neuromuscular diseases for the past 15 years. Her background as Principal Investigator for several national and international multi-center trials includes: Thymectomy in myasthenia gravis, CellCept in myasthenia gravis, Dichlorphenamide (DCP) in periodic paralyses; Mexiletine in myotonia congenita; and Ataluren (PTC124) in Duchenne muscular dystrophy. Most recently she became a Site Investigator for the NINDS comparative study of treatments in Duchenne Muscular Dystrophy led by Dr. Robert Griggs here at the University of Rochester and Dr. Kate Bushby.

 
 Selected Publications
List All   |   Timeline
  1. 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.
    View in: PubMed
  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.
    View in: PubMed
  3. Hehir MK, Logigian E, Raja Rayan DL, Ciafaloni E. Double trouble in a patient with myotonia. BMJ Case Rep. 2013; 2013.
    View in: PubMed
  4. 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.
    View in: PubMed
  5. 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. Am J Med Genet A. 2013 Jan; 161(1):70-5.
    View in: PubMed
  6. Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL. Introduction for myasthenia gravis and related disorders. Ann N Y Acad Sci. 2012 Dec; 1274(1):vii-viii.
    View in: PubMed
  7. Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL. Introduction for myasthenia gravis and related disorders. Ann N Y Acad Sci. 2012 Dec; 1275(1):vii-viii.
    View in: PubMed
  8. 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.
    View in: PubMed
  9. Nabukera SK, Romitti PA, Campbell KA, Meaney FJ, Caspers KM, Mathews KD, Sherlock SM, Puzhankara S, Cunniff C, Druschel CM, Pandya S, Matthews DJ, Ciafaloni E. Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy. J Child Neurol. 2012 Jun; 27(6):734-40.
    View in: PubMed
  10. 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. Genet Med. 2011 Nov; 13(11):942-7.
    View in: PubMed
  11. 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. J Child Neurol. 2010 Sep; 25(9):1098-102.
    View in: PubMed
  12. 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. J Child Neurol. 2010 Sep; 25(9):1116-29.
    View in: PubMed
  13. 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. J Child Neurol. 2010 Nov; 25(11):1319-24.
    View in: PubMed
  14. Kwon JB, Kleiner A, Ishida K, Godown J, Ciafaloni E, Looney RJ. Hydroxychloroquine-induced myopathy. J Clin Rheumatol. 2010 Jan; 16(1):28-31.
    View in: PubMed
  15. Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007. MMWR Morb Mortal Wkly Rep. 2009 Oct 16; 58(40):1119-22.
    View in: PubMed
  16. 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). J Pediatr. 2009 Sep; 155(3):380-5.
    View in: PubMed
  17. 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. Pediatr Neurol. 2009 Apr; 40(4):245-52; discussion 253-5.
    View in: PubMed
  18. 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. J Child Neurol. 2009 Apr; 24(4):425-30.
    View in: PubMed
  19. Heatwole C, Ciafaloni E. Mycophenolate mofetil for myasthenia gravis: a clear and present controversy. Neuropsychiatr Dis Treat. 2008 Dec; 4(6):1203-9.
    View in: PubMed
  20. 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.
    View in: PubMed
  21. 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.
    View in: PubMed
  22. 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.
    View in: PubMed
  23. 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. N Engl J Med. 2008 Jun 19; 358(25):2688-97.
    View in: PubMed
  24. A trial of mycophenolate mofetil with prednisone as initial immunotherapy in myasthenia gravis. Neurology. 2008 Aug 5; 71(6):394-9.
    View in: PubMed
  25. Ciafaloni E, Moxley RT. Treatment options for Duchenne muscular dystrophy. Curr Treat Options Neurol. 2008 Mar; 10(2):86-93.
    View in: PubMed
  26. 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.
    View in: PubMed
  27. 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.
    View in: PubMed
  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.
    View in: PubMed
  29. 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 Res A Clin Mol Teratol. 2006 Nov; 76(11):793-7.
    View in: PubMed
  30. Ciafaloni E. Mycophenolate mofetil and myasthenia gravis. Lupus. 2005; 14 Suppl 1:s46-9.
    View in: PubMed
  31. Ciafaloni E, Massey JM. Myasthenia gravis and pregnancy. Neurol Clin. 2004 Nov; 22(4):771-82.
    View in: PubMed
  32. 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. Hum Genet. 2004 Jun; 115(1):13-8.
    View in: PubMed
  33. Ciafaloni E, Massey JM. The management of myasthenia gravis in pregnancy. Semin Neurol. 2004 Mar; 24(1):95-100.
    View in: PubMed
  34. 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.
    View in: PubMed
  35. 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. Ann N Y Acad Sci. 2003 Sep; 998:351-5.
    View in: PubMed
  36. 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 Dec 10; 59(11):1689-93.
    View in: PubMed
  37. 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.
    View in: PubMed
  38. Ciafaloni E, Sanders DB. Treatment of myasthenia gravis: current practice and future directions. Expert Rev Neurother. 2002 Sep; 2(5):743-8.
    View in: PubMed
  39. Ciafaloni E, Sanders DB. Advances in myasthenia gravis. Curr Neurol Neurosci Rep. 2002 Jan; 2(1):89-95.
    View in: PubMed
  40. 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. J Immunol. 2001 Feb 15; 166(4):2808-17.
    View in: PubMed
  41. 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.
    View in: PubMed
  42. 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.
    View in: PubMed
  43. 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. Hum Mol Genet. 1995 Nov; 4(11):2171-4.
    View in: PubMed
  44. 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.
    View in: PubMed
  45. 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. Arch Neurol. 1993 Mar; 50(3):275-8.
    View in: PubMed
  46. Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S. Maternally inherited Leigh syndrome. J Pediatr. 1993 Mar; 122(3):419-22.
    View in: PubMed
  47. 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. J Neurol Sci. 1992 Dec; 113(2):222-9.
    View in: PubMed
  48. 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. J Neurol Sci. 1992 Sep; 111(2):222-6.
    View in: PubMed
  49. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol. 1992 Apr; 31(4):391-8.
    View in: PubMed
  50. 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.
    View in: PubMed
  51. 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. Clin Neuropathol. 1991 Jul-Aug; 10(4):171-6.
    View in: PubMed
  52. 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. Ann Neurol. 1991 Jun; 29(6):680-3.
    View in: PubMed
  53. Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E, Cossutta E, Binda A, Gallanti A, Gabellini S, et al. Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. J Neurol Sci. 1990 Dec; 100(1-2):70-8.
    View in: PubMed

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