Emma Ciafaloni - Publications

Affiliations: 
Neurology University of Rochester, Rochester, NY 

5/138 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Nowak RJ, Coffey CS, Goldstein JM, Dimachkie MM, Benatar M, Kissel JT, Wolfe GI, Burns TM, Freimer ML, Nations S, Granit V, Smith AG, Richman DP, Ciafaloni E, Al-Lozi MT, et al. Phase 2 Trial of Rituximab in Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis: The BeatMG Study. Neurology. PMID 34857535 DOI: 10.1212/WNL.0000000000013121  0.459
2020 Hehir MK, Rostedt Punga A, Ciafaloni E. Myasthenia Gravis Patient and Physician Opinions About Immunosuppressant Reduction. Muscle & Nerve. PMID 32129892 DOI: 10.1002/Mus.26850  0.55
2019 Machado P, Barohn R, McDermott M, Blaetter T, Lloyd T, Shaibani A, Freimer M, Amato A, Ciafaloni E, Burns T, Mozaffar T, Gibson S, Wicklund M, Saperstein D, Levine T, et al. P.02Phase 2/3 study of Arimoclomol in sporadic inclusion body myositis: study design Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.031  0.442
2015 Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, et al. Editorial by concerned physicians: Unintended effect of the Orphan Drug Act on the potential cost of 3,4-diaminopyridine. Muscle & Nerve. PMID 26662952 DOI: 10.1002/Mus.25009  0.524
2013 Hehir MK, Logigian E, Raja Rayan DL, Ciafaloni E. Double trouble in a patient with myotonia. Bmj Case Reports. 2013. PMID 23417379 DOI: 10.1136/Bcr-2012-008167  0.537
Low-probability matches (unlikely to be authored by this person)
2008 Ciafaloni E, Moxley RT. Treatment options for Duchenne muscular dystrophy. Current Treatment Options in Neurology. 10: 86-93. PMID 18334131 DOI: 10.1007/s11940-008-0010-4  0.256
2000 Ciafaloni E, Nikhar NK, Massey JM, Sanders DB. Retrospective analysis of the use of cyclosporine in myasthenia gravis. Neurology. 55: 448-50. PMID 10932288 DOI: 10.1212/WNL.55.3.448  0.233
2005 Ciafaloni E. Mycophenolate mofetil and myasthenia gravis. Lupus. s46-9. PMID 15803932 DOI: 10.1191/0961203305LU2118OA  0.23
2005 Ciafaloni E. Mycophenolate mofetil and myasthenia gravis Lupus. 14: 46-49. DOI: 10.1177/096120330501400110  0.23
2021 McDonald CM, Shieh PB, Abdel-Hamid HZ, Connolly AM, Ciafaloni E, Wagner KR, Goemans N, Mercuri E, Khan N, Koenig E, Malhotra J, Zhang W, Han B, Mendell JR. Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial. Journal of Neuromuscular Diseases. PMID 34120909 DOI: 10.3233/JND-210643  0.23
2001 Ciafaloni E, Massey JM, Tucker-Lipscomb B, Sanders DB. Mycophenolate mofetil for myasthenia gravis: an open-label pilot study. Neurology. 56: 97-9. PMID 11148243 DOI: 10.1212/WNL.56.1.97  0.229
2013 Statland JM, Ciafaloni E. Myasthenia gravis: Five new things. Neurology. Clinical Practice. 3: 126-133. PMID 23914322 DOI: 10.1212/CPJ.0b013e31828d9fec  0.228
2010 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. 16: 28-31. PMID 20051753 DOI: 10.1097/RHU.0b013e3181c47ec8  0.217
2016 Wolfe GI, Kaminski HJ, Aban IB, Minisman G, Kuo HC, Marx A, Ströbel P, Mazia C, Oger J, Cea JG, Heckmann JM, Evoli A, Nix W, Ciafaloni E, Antonini G, et al. Randomized Trial of Thymectomy in Myasthenia Gravis. The New England Journal of Medicine. 375: 511-522. PMID 27509100 DOI: 10.1056/Nejmoa1602489  0.199
2012 Ciafaloni E, Hehir M, Logigian E. 99. Double trouble in a patient with myotonia Clinical Neurophysiology. 123: e45. DOI: 10.1016/j.clinph.2011.11.181  0.198
2020 Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, et al. Medical management of muscle weakness in Duchenne muscular dystrophy. Plos One. 15: e0240687. PMID 33075081 DOI: 10.1371/journal.pone.0240687  0.198
2008 Heatwole C, Ciafaloni E. Mycophenolate mofetil for myasthenia gravis: a clear and present controversy. Neuropsychiatric Disease and Treatment. 4: 1203-9. PMID 19337460 DOI: 10.2147/ndt.s3309  0.196
2003 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. 61: 1438-40. PMID 14638974 DOI: 10.1212/01.WNL.0000094122.88929.0B  0.195
2012 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, et al. Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. Jama. 308: 1357-65. PMID 23032552 DOI: 10.1001/jama.2012.12607  0.19
2010 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. 25: 1116-29. PMID 20581335 DOI: 10.1177/0883073810371004  0.187
2023 Machado PM, McDermott MP, Blaettler T, Sundgreen C, Amato AA, Ciafaloni E, Freimer M, Gibson SB, Jones SM, Levine TD, Lloyd TE, Mozaffar T, Shaibani AI, Wicklund M, Rosholm A, et al. Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial. The Lancet. Neurology. 22: 900-911. PMID 37739573 DOI: 10.1016/S1474-4422(23)00275-2  0.184
2019 Wolfe GI, Kaminski HJ, Aban IB, Minisman G, Kuo HC, Marx A, Ströbel P, Mazia C, Oger J, Cea JG, Heckmann JM, Evoli A, Nix W, Ciafaloni E, Antonini G, et al. Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial. The Lancet. Neurology. PMID 30692052 DOI: 10.1016/S1474-4422(18)30392-2  0.182
2019 Ciafaloni E. Myasthenia Gravis and Congenital Myasthenic Syndromes. Continuum (Minneapolis, Minn.). 25: 1767-1784. PMID 31794470 DOI: 10.1212/CON.0000000000000800  0.182
2002 Ciafaloni E, Sanders DB. Advances in myasthenia gravis. Current Neurology and Neuroscience Reports. 2: 89-95. PMID 11898588  0.178
2020 Lee I, Kuo HC, Aban IB, Cutter GR, McPherson T, Kaminski HJ, Sussman J, Ströbel P, Oger J, Cea G, Heckmann JM, Evoli A, Nix W, Ciafaloni E, Antonini G, et al. Minimal manifestation status and prednisone withdrawal in the MGTX trial. Neurology. PMID 32611638 DOI: 10.1212/WNL.0000000000010031  0.178
2020 Veerapandiyan A, Wagner KR, Apkon S, McDonald CM, Mathews KD, Parsons JA, Wong BL, Eichinger K, Shieh PB, Butterfield RJ, Rao VK, Smith EC, Proud CM, Connolly AM, Ciafaloni E. The care of patients with Duchenne, Becker and other muscular dystrophies in the COVID-19 pandemic. Muscle & Nerve. PMID 32329920 DOI: 10.1002/Mus.26902  0.173
2020 Veerapandiyan A, Connolly AM, Finkel RS, Arya K, Mathews KD, Smith EC, Castro D, Butterfield RJ, Parsons JA, Servais L, Kuntz N, Rao VK, Brandsema JF, Mercuri E, Ciafaloni E. Spinal muscular atrophy care in the COVID-19 pandemic era. Muscle & Nerve. PMID 32329921 DOI: 10.1002/Mus.26903  0.17
2002 Ciafaloni E, Sanders DB. Treatment of myasthenia gravis: current practice and future directions. Expert Review of Neurotherapeutics. 2: 743-8. PMID 19810991 DOI: 10.1586/14737175.2.5.743  0.169
1992 Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, et al. MELAS: Clinical features, biochemistry, and molecular genetics Annals of Neurology. 31: 391-398. PMID 1586140 DOI: 10.1002/Ana.410310408  0.165
2008 Pandya S, Fox D, Fox K, Westfield C, Su Y, Campbell K, Guntrum D, Ciafaloni E, Moxley R. T.P.5.05 Benefits of initiating prednisone treatment in non-ambulatory patients with Duchenne muscular dystrophy (DMD) Neuromuscular Disorders. 18: 825. DOI: 10.1016/j.nmd.2008.06.346  0.163
2015 Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM. Cystic fibrosis newborn screening: a model for neuromuscular disease screening? Annals of Neurology. 77: 189-97. PMID 25425541 DOI: 10.1002/Ana.24316  0.156
2023 Mercuri E, Pane M, Cicala G, Brogna C, Ciafaloni E. Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications. Frontiers in Pediatrics. 11: 1276144. PMID 38027286 DOI: 10.3389/fped.2023.1276144  0.155
2008 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. 358: 2688-97. PMID 18565861 DOI: 10.1056/Nejmoa062800  0.155
2007 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. 35: 479-85. PMID 17230537 DOI: 10.1002/mus.20722  0.154
2023 Tavakoli NP, Gruber D, Armstrong N, Chung WK, Maloney B, Park S, Wynn J, Koval-Burt C, Verdade L, Tegay DH, Cohen LL, Shapiro N, Kennedy A, Noritz G, Ciafaloni E, et al. Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Annals of Clinical and Translational Neurology. PMID 37350320 DOI: 10.1002/acn3.51829  0.15
1993 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. 113: 222-9. PMID 1487758 DOI: 10.1016/0022-510X(92)90250-O  0.15
2020 Pisciotta C, Ciafaloni E, Zuccarino R, Calabrese D, Saveri P, Fenu S, Tramacere I, Genovese F, Dilek N, Johnson NE, Heatwole C, Herrmann DN, Pareyson D. Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI). Journal of the Peripheral Nervous System : Jpns. PMID 32511835 DOI: 10.1111/jns.12397  0.15
2010 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. 25: 1319-24. PMID 20207610 DOI: 10.1177/0883073810362762  0.149
2001 Sempowski GD, Thomasch JR, Gooding ME, Hale LP, Edwards LJ, Ciafaloni E, Sanders DB, Massey JM, Douek DC, Koup RA, Haynes BF. Effect of thymectomy on human peripheral blood T cell pools in myasthenia gravis Journal of Immunology. 166: 2808-2817. PMID 11160348 DOI: 10.4049/Jimmunol.166.4.2808  0.149
2007 Pandya S, Ciafaloni E, Guntrum D, Moxley R. G.P.1.03 Increasing survival and changing needs in a cohort of patients with Duchenne muscular dystrophy (DMD) treated with daily prednisone therapy since 1991 Neuromuscular Disorders. 17: 772-773. DOI: 10.1016/j.nmd.2007.06.043  0.147
2023 Ramani PK, Fawcett K, Guntrum D, Samuel H, Ciafaloni E, Veerapandiyan A. Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies. Child Neurology Open. 10: 2329048X231159484. PMID 36844469 DOI: 10.1177/2329048X231159484  0.145
2021 Donaldson A, Guntrum D, Ciafaloni E, Statland J. Achieving Life Milestones in Duchenne/Becker Muscular Dystrophy: A Retrospective Analysis. Neurology. Clinical Practice. 11: 311-317. PMID 34484931 DOI: 10.1212/CPJ.0000000000000970  0.145
2022 Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, ... ... Ciafaloni E, et al. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. Jama. PMID 35381069 DOI: 10.1001/jama.2022.4315  0.144
2020 Donaldson A, Guntrum D, Ciafaloni E, Statland J. Achieving Life Milestones in Duchenne/Becker Muscular Dystrophy Neurology: Clinical Practice. 11: 311-317. DOI: 10.1212/CPJ.0000000000000970  0.144
2013 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. 80: 583-9. PMID 23382369 DOI: 10.1212/WNL.0b013e318282334e  0.14
2002 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, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology. 59: 1689-93. PMID 12473753 DOI: 10.1212/01.WNL.0000041631.28557.C6  0.139
2019 Veerapandiyan A, Eichinger K, Guntrum D, Kwon J, Baker L, Collins E, Ciafaloni E. Nusinersen for older patients with SMA: a real-world clinical setting experience. Muscle & Nerve. PMID 31773738 DOI: 10.1002/mus.26769  0.137
2017 Vander Heiden JA, Stathopoulos P, Zhou JQ, Chen L, Gilbert TJ, Bolen CR, Barohn RJ, Dimachkie MM, Ciafaloni E, Broering TJ, Vigneault F, Nowak RJ, Kleinstein SH, O'Connor KC. Dysregulation of B Cell Repertoire Formation in Myasthenia Gravis Patients Revealed through Deep Sequencing. Journal of Immunology (Baltimore, Md. : 1950). PMID 28087666 DOI: 10.4049/Jimmunol.1601415  0.137
2017 Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, ... ... Ciafaloni E, et al. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemporary Clinical Trials. PMID 28450193 DOI: 10.1016/J.Cct.2017.04.008  0.136
1992 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. 111: 222-226. PMID 1431990 DOI: 10.1016/0022-510X(92)90074-U  0.134
1993 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. 43: 1200-6. PMID 8170567 DOI: 10.1212/WNL.43.6.1200  0.132
2016 Andrews JG, Soim A, Pandya S, Westfield CP, Ciafaloni E, Fox DJ, Birnkrant DJ, Cunniff CM, Sheehan DW. Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011. Respiratory Care. PMID 27507176 DOI: 10.4187/respcare.04676  0.131
2017 Ke Q, Zhao ZY, Griggs R, Wiley V, Connolly A, Kwon J, Qi M, Sheehan D, Ciafaloni E, Howell RR, Furu P, Sazani P, Narayana A, Gatheridge M. Newborn screening for Duchenne muscular dystrophy in China: Follow-up diagnosis and subsequent treatment. World Journal of Pediatrics : Wjp. PMID 28466241 DOI: 10.1007/s12519-017-0036-3  0.13
2010 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. 25: 1098-102. PMID 20817884 DOI: 10.1177/0883073810371001  0.129
1995 Comi GP, Ciafaloni E, De Silva HAR, Prelle A, Bardoni A, Rigoletto C, Robotti M, Bresolin N, Moggio M, Fortunato F, Ciscato P, Turconi A, Rose AD, Scarlato G. 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. 4: 2171-2174. PMID 8589698 DOI: 10.1093/HMG/4.11.2171  0.128
2021 Zizzi CE, Luebbe E, Mongiovi P, Hunter M, Dilek N, Garland C, Ciafaloni E, Zaidman CM, Kissel JT, McDermott MP, Johnson N, Sansone V, Heatwole CR. The Spinal Muscular Atrophy Health Index (SMA-HI): A Novel Outcome for Measuring How a Patient Feels and Functions. Muscle & Nerve. PMID 33711174 DOI: 10.1002/mus.27223  0.128
2004 Ciafaloni E, Massey JM. Myasthenia gravis and pregnancy Neurologic Clinics. 22: 771-782. PMID 15474766 DOI: 10.1016/j.ncl.2004.06.003  0.127
2013 Medeiros MO, Behrend C, King W, Sanders J, Kissel J, Ciafaloni E. Fat embolism syndrome in patients with Duchenne muscular dystrophy. Neurology. 80: 1350-1352. PMID 23516314 DOI: 10.1212/Wnl.0B013E31828Ab313  0.127
2022 Thomas S, Conway KM, Fapo O, Street N, Mathews KD, Mann J, Romitti PA, Soim A, Westfield C, Fox DJ, Ciafaloni E. Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), 2000-2015. Muscle & Nerve. PMID 35312090 DOI: 10.1002/mus.27532  0.126
1991 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. 29: 680-683. PMID 1892371 DOI: 10.1002/Ana.410290619  0.121
2012 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. Journal of Child Neurology. 27: 734-40. PMID 22156783 DOI: 10.1177/0883073811426501  0.121
2004 Ciafaloni E, Massey JM. The management of myasthenia gravis in pregnancy Seminars in Neurology. 24: 95-100. PMID 15229796 DOI: 10.1055/s-2004-829590  0.12
2009 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. 24: 425-30. PMID 19074751 DOI: 10.1177/0883073808324770  0.119
2018 Andrews JG, Conway K, Westfield C, Trout C, Meaney FJ, Mathews K, Ciafaloni E, Cunniff C, Fox DJ, Matthews D, Pandya S. Implementation of Duchenne Muscular Dystrophy Care Considerations. Pediatrics. PMID 29925575 DOI: 10.1542/peds.2017-4006  0.117
2019 Ciafaloni E, Cohen F, Griggs R. Efficacy and Safety of Dichlorphenamide for Primary Periodic Paralysis in Adolescents Compared With Adults. Pediatric Neurology. PMID 31570296 DOI: 10.1016/j.pediatrneurol.2019.07.019  0.115
2018 Weber DR, Thomas S, Erickson SW, Fox D, Oleszek J, Pandya S, Venkatesh Y, Westfield C, Ciafaloni E. Bone Health and Endocrine Care of Boys with Duchenne Muscular Dystrophy: Data from the MD STARnet. Journal of Neuromuscular Diseases. PMID 30149461 DOI: 10.3233/JND-180317  0.114
2003 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. 998: 351-5. PMID 14592895 DOI: 10.1196/annals.1254.040  0.11
2018 Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, ... Ciafaloni E, et al. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 19: 291. PMID 29793540 DOI: 10.1186/S13063-018-2645-0  0.11
2019 Ke Q, Zhao ZY, Mendell JR, Baker M, Wiley V, Kwon JM, Alfano LN, Connolly AM, Jay C, Polari H, Ciafaloni E, Qi M, Griggs RC, Gatheridge MA. Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy. World Journal of Pediatrics : Wjp. PMID 30904991 DOI: 10.1007/s12519-019-00242-6  0.109
2018 Wittlieb-Weber CA, Pantea C, Krikov S, Westfield C, Fox DJ, Pandya S, Bounsanga J, Johnson NE, Butterfield RJ, Venkatesh YS, Ciafaloni E. Cardiovascular health supervision for Duchenne Muscular Dystrophy; data from the MD STARnet Progress in Pediatric Cardiology. 48: 98-104. DOI: 10.1016/J.Ppedcard.2018.01.012  0.108
2018 Hamel J, Ciafaloni E. An Update: Myasthenia Gravis and Pregnancy. Neurologic Clinics. 36: 355-365. PMID 29655454 DOI: 10.1016/j.ncl.2018.01.005  0.106
2009 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, et al. Newborn screening for Krabbe disease: the New York State model. Pediatric Neurology. 40: 245-52; discussion 2. PMID 19302934 DOI: 10.1016/J.Pediatrneurol.2008.11.010  0.104
2021 Mathews KD, Conway KM, Gedlinske AM, Johnson N, Street N, Butterfield RJ, Hung M, Ciafaloni E, Romitti PA. Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR). Children (Basel, Switzerland). 8. PMID 34682100 DOI: 10.3390/children8100835  0.102
2018 Andrews JG, Lamb M, Conway K, Street N, Westfield C, Ciafaloni E, Matthews D, Cunniff C, Pandya S, Fox DJ, STARnet MD. Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1. Journal of Neuromuscular Diseases. PMID 30320597 DOI: 10.3233/Jnd-180306  0.101
2009 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. 155: 380-5. PMID 19394035 DOI: 10.1016/J.Jpeds.2009.02.007  0.101
2021 Andrews JG, Lamb M, Conway K, Street N, Westfield C, Ciafaloni E, Matthews D, Pandya S. Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet). Journal of Neuromuscular Diseases. PMID 34776418 DOI: 10.3233/JND-210739  0.101
1991 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. 41: 1663-4. PMID 1922812 DOI: 10.1212/Wnl.41.10.1663  0.099
2017 Latimer R, Street N, Conway KC, James K, Cunniff C, Oleszek J, Fox D, Ciafaloni E, Westfield C, Paramsothy P. Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. Journal of Child Neurology. 883073817701368. PMID 28393671 DOI: 10.1177/0883073817701368  0.098
2018 Veerapandiyan A, Pal R, D'Ambrosio S, Young I, Eichinger K, Collins E, Westesson PL, Kwon J, Ciafaloni E. Cervical puncture to deliver nusinersen in patients with spinal muscular atrophy. Neurology. PMID 30006410 DOI: 10.1212/WNL.0000000000006006  0.098
2004 Cagliana 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. 115: 13-18. PMID 15118904 DOI: 10.1007/s00439-004-1118-6  0.092
2018 Michelson D, Ciafaloni E, Ashwal S, Lewis E, Narayanaswami P, Oskoui M, Armstrong MJ. Evidence in focus: Nusinersen use in spinal muscular atrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology. PMID 30315070 DOI: 10.1212/WNL.0000000000006502  0.091
2020 Haber G, Conway KM, Paramsothy P, Roy A, Rogers H, Ling X, Kozauer N, Street N, Romitti PA, Fox DJ, Phan HC, Matthews D, Ciafaloni E, Oleszek J, James KA, et al. Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy. Muscle & Nerve. PMID 33150975 DOI: 10.1002/mus.27113  0.089
2022 Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, ... ... Ciafaloni E, et al. Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years. Neurology. PMID 35835557 DOI: 10.1212/WNL.0000000000200986  0.089
2012 Scully M, Cwik V, Marshall B, Ciafaloni E, Getchius T, Griggs R. Guidelines and Outcomes; Standardizing Care for Duchenne Muscular Dystrophy (P04.087) Neurology. 78: P04.087-P04.087. DOI: 10.1212/WNL.78.1_MEETINGABSTRACTS.P04.087  0.088
2008 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. 70: 226-30. PMID 18195268 DOI: 10.1212/01.Wnl.0000296827.20167.98  0.088
2021 Lee BH, Waldrop MA, Connolly AM, Ciafaloni E. Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy. Muscle & Nerve. PMID 33959970 DOI: 10.1002/mus.27261  0.087
2023 Conway KM, Thomas S, Ciafaloni E, Khan RS, Mann JR, Romitti PA, Mathews KD. Prophylactic use of cardiac medications for delay of left ventricular dysfunction in Duchenne muscular dystrophy. Birth Defects Research. PMID 37850663 DOI: 10.1002/bdr2.2260  0.084
2017 Conway KM, Ciafaloni E, Matthews D, Westfield C, James K, Paramsothy P, Romitti PA. Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies. Disability and Rehabilitation. 1-8. PMID 28395534 DOI: 10.1080/09638288.2017.1312567  0.084
2017 Gissy JJ, Johnson T, Fox DJ, Kumar A, Ciafaloni E, van Essen AJ, Peay HL, Martin A, Lucas A, Finkel RS. Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials. Neuromuscular Disorders : Nmd. PMID 28739181 DOI: 10.1016/j.nmd.2017.06.002  0.082
2013 Pandya S, Kumar A, James K, Westfield C, Ciafaloni E, Cunniff C, Romitti P, Moxley RT, STARnet NYM. P.7.5 Sociodemographic and health related profile of adults with Duchenne/Becker Muscular Dystrophy (DBMD): Data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) Neuromuscular Disorders. 23: 774. DOI: 10.1016/J.Nmd.2013.06.486  0.081
2021 Sansone VA, Johnson NE, Hanna MG, Ciafaloni E, Statland JM, Shieh PB, Cohen F, Griggs RC. Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis. Muscle & Nerve. PMID 34129236 DOI: 10.1002/mus.27354  0.08
2020 Lee BH, Mongiovi P, Levade T, Marston B, Mountain J, Ciafaloni E. Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. American Journal of Medical Genetics. Part A. PMID 32627310 DOI: 10.1002/ajmg.a.61764  0.079
2017 Andrews JG, Soim A, Pandya S, Westfield CP, Ciafaloni E, Fox DJ, Birnkrant DJ, Cunniff CM, Sheehan DW. Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply. Respiratory Care. 62: 1121-1122. PMID 28733321 DOI: 10.4187/respcare.05675  0.078
2020 Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, et al. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32418989 DOI: 10.1038/s41436-020-0824-3  0.078
2021 Soim A, Wallace B, Whitehead N, Smith MG, Mann JR, Thomas S, Ciafaloni E. Health Profile of Preterm Males With Duchenne Muscular Dystrophy. Journal of Child Neurology. 36: 1095-1102. PMID 34677095 DOI: 10.1177/08830738211047019  0.078
2022 Paramsothy P, Wang Y, Cai B, Conway KM, Johnson NE, Pandya S, Ciafaloni E, Mathews KD, Romitti PA, Howard JF, Riley C. Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network. Neuromuscular Disorders : Nmd. PMID 35597713 DOI: 10.1016/j.nmd.2022.04.008  0.077
2014 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. 164: 2769-74. PMID 25125379 DOI: 10.1002/ajmg.a.36728  0.077
2017 Frishman N, Conway KC, Andrews J, Oleson J, Mathews K, Ciafaloni E, Oleszek J, Lamb M, Matthews D, Paramsothy P, McKirgan L, Romitti P. Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources. Health and Quality of Life Outcomes. 15: 33. PMID 28187773 DOI: 10.1186/S12955-017-0612-1  0.077
2024 Armstrong N, Apkon S, Berggren KN, Braun C, Ciafaloni E, Connolly A, Kennedy A, Kuntz N, Mathews K, McGuire M, Parad R, Scavina M, Scharf RJ, Waldrop M. The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report. Journal of Neuromuscular Diseases. PMID 38189762 DOI: 10.3233/JND-230180  0.076
2020 Brodell JD, Sulovari A, Bernstein DN, Mongiovi PC, Ciafaloni E, Rubery PT, Mesfin A. Dropped Head Syndrome: An Update on Etiology and Surgical Management. Jbjs Reviews. 8: e0068. PMID 32105239 DOI: 10.2106/JBJS.RVW.19.00068  0.073
2018 Soim A, Smith MG, Kwon JM, Mann JR, Thomas S, Ciafaloni E. Is There a Delay in Diagnosis of Duchenne Muscular Dystrophy Among Preterm-Born Males? Journal of Child Neurology. 883073818773029. PMID 29759004 DOI: 10.1177/0883073818773029  0.073
2020 Ciafaloni E, Fapo O, Conway K, Street N, Romitti P, Westfield C, Fox D, Matthews K, Mann J, Thomas S, Soim A, STARnet M. DMD & BMD – CLINICAL Neuromuscular Disorders. 30: S63. DOI: 10.1016/j.nmd.2020.08.062  0.073
2020 Mathews K, Perlman S, Conway K, Ciafaloni E, Thomas S, Mann J, Romitti P. DMD & BMD – CLINICAL Neuromuscular Disorders. 30: S60-S61. DOI: 10.1016/j.nmd.2020.08.053  0.073
2020 Johnston K, Salhany R, Ciafaloni E, Mickle A, Miller S, Gooch K. DMD & BMD – CLINICAL Neuromuscular Disorders. 30: S59-S60. DOI: 10.1016/j.nmd.2020.08.049  0.073
2023 Mann JR, Zhang Y, McDermott S, Wang Y, Cai B, Conway KM, Paramsothy P, Royer J, Venkatesh S, Howard JF, Ciafaloni E. Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy. Neuroepidemiology. PMID 36623491 DOI: 10.1159/000528962  0.072
2011 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. 13: 942-7. PMID 21836521 DOI: 10.1097/GIM.0b013e31822623f1  0.068
2021 Deng S, Lee BH, Ciafaloni E. Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening. Journal of Child Neurology. 8830738211040292. PMID 34753336 DOI: 10.1177/08830738211040292  0.065
2006 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. 67: 1887-9. PMID 17130433 DOI: 10.1212/01.wnl.0000244471.05316.19  0.064
2015 Snyder Y, Donlin-Smith C, Snyder E, Pressman E, Ciafaloni E. The course and outcome of pregnancy in women with nondystrophic myotonias. Muscle & Nerve. PMID 25900207 DOI: 10.1002/mus.24684  0.063
2015 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, et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 135: 513-21. PMID 25687144 DOI: 10.1542/Peds.2014-2044  0.06
2012 Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL. Introduction for Myasthenia Gravis and Related Disorders. Annals of the New York Academy of Sciences. 1275: vii-viii. PMID 23278589 DOI: 10.1111/nyas.12013  0.059
2012 Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL. Introduction for myasthenia gravis and related disorders. Annals of the New York Academy of Sciences. 1274: vii-viii. PMID 23252910 DOI: 10.1111/j.1749-6632.2012.06835.x  0.059
2012 Rayan DR, Matthews E, Barreto G, Tan S, Dewar L, Burge J, Wang Y, Trivedi J, Ciafaloni E, Salajegheh M, Venance S, Meola G, Bundy B, Herbelin L, Statland J, et al. O04 Efficacy of mexiletine in non-dystrophic myotonia: results of an international multi-centred randomised controlled trial Neuromuscular Disorders. 22: S4. DOI: 10.1016/S0960-8966(12)70005-6  0.058
1993 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. 50: 275-8. PMID 8442706 DOI: 10.1001/ARCHNEUR.1993.00540030041012  0.057
2015 Pandya SK, Campbell KA, Andrews JG, Meaney FJ, Ciafaloni E. Health services received by individuals with Duchenne/Becker muscular dystrophy. Muscle & Nerve. PMID 26044770 DOI: 10.1002/mus.24727  0.054
1993 Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S. Maternally inherited Leigh syndrome. The Journal of Pediatrics. 122: 419-22. PMID 8095070 DOI: 10.1016/S0022-3476(05)83431-6  0.053
2016 Lamb MM, West NA, Ouyang L, Yang M, Weitzenkamp D, James K, Ciafaloni E, Pandya S, DiGuiseppi C. Corticosteroid Treatment and Growth Patterns in Ambulatory Males with Duchenne Muscular Dystrophy. The Journal of Pediatrics. PMID 27039228 DOI: 10.1016/J.Jpeds.2016.02.067  0.053
2016 Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, et al. Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis. Neurology. PMID 26865514 DOI: 10.1212/Wnl.0000000000002416  0.052
2016 Wanaski S, Shieh P, Kuntz N, Ciafaloni E, Butterfield R, Brantley S, Grasfeder L, Dubow J, Beers B, Kernbauer E, Wells C, Cunniff T, Griggs R. Pharmacokinetics of 21-desacetyldeflazacort and the safety of deflazacort after oral administration to children and adolescents with Duchenne muscular dystrophy Neuromuscular Disorders. 26. DOI: 10.1016/J.Nmd.2016.06.343  0.051
2020 Mongiovi P, Meyers S, Griggs R, Eichinger K, Ciafaloni E. MYASTHENIA & RELATED DISORDERS Neuromuscular Disorders. 30: S58. DOI: 10.1016/j.nmd.2020.08.043  0.051
2013 Peay HL, Scully MA, Cwik VA, Ciafaloni E, Griggs RC. Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Neurology. 81: 1802. PMID 24218315 DOI: 10.1212/01.wnl.0000435756.50142.45  0.05
2020 James KA, Gralla J, Ridall LA, Do TN, Czaja AS, Mourani PM, Ciafaloni E, Cunniff C, Donnelly J, Oleszek J, Pandya S, Price E, Yang ML, Auerbach SR. Left ventricular dysfunction in Duchenne muscular dystrophy. Cardiology in the Young. 1-6. PMID 31964455 DOI: 10.1017/S1047951119002610  0.049
2014 Ridall L, Gralla J, Mourani PM, Czaja A, Yang M, Cunniff C, Donnelly JA, Ciafaloni E, Oleszek J, Pandya S, Price E, Auerbach S. PROGRESSION OF LEFT VENTRICULAR DYSFUNCTION IN CHILDHOOD-ONSET DUCHENNE AND BECKER MUSCULAR DYSTROPHIES Journal of the American College of Cardiology. 63: A1270. DOI: 10.1016/S0735-1097(14)61270-5  0.046
2014 Ridall L, Gralla J, Mourani P, Czaja A, Yang M, Cunniff C, Donnelly J, Ciafaloni E, Oleszek J, Pandya S, Price E, Auerbach S. Progression of Left Ventricular Dysfunction in Duchenne and Becker Muscular Dystrophies The Journal of Heart and Lung Transplantation. 33: S305-S306. DOI: 10.1016/J.HEALUN.2014.01.824  0.042
2018 Pandya S, James KA, Westfield C, Thomas S, Fox DJ, Ciafaloni E, Moxley RT. Health Profile of a Cohort of Adults with Duchenne Muscular Dystrophy (DMD). Muscle & Nerve. PMID 29543994 DOI: 10.1002/mus.26129  0.042
2011 Romitti P, Puzhankara S, Zamba G, Nabukera S, James K, Andrews J, Fox D, Cunniff C, Ciafaloni E, Druschel C, Mathews K, Matthews D, Miller L, Pandya S, Au S, et al. P2-260 Population-based prevalence of Duchenne/Becker muscular dystrophy (DBMD) in the USA Journal of Epidemiology and Community Health. 65. DOI: 10.1136/Jech.2011.142976J.93  0.041
2013 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. 161: 70-5. PMID 23239595 DOI: 10.1002/Ajmg.A.35682  0.041
2006 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, et al. The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth Defects Research. Part a, Clinical and Molecular Teratology. 76: 793-7. PMID 17036307 DOI: 10.1002/Bdra.20279  0.039
2012 Apkon S, Ciafaloni E, Cunniff C, Holtzer C, James K, Lu Z, Matthews K, Miller L, Pandya S. Poster 452 Risk Factors for Fractures Among Males with Duchenne or Becker Muscular Dystrophy Pm&R. 4: S183-S184. DOI: 10.1016/j.pmrj.2012.09.618  0.038
2014 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. PMID 25379822 DOI: 10.1097/BPO.0000000000000348  0.038
2002 Gibbs JW, Ciafaloni E, Radtke RA. Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy. Sleep. 25: 662-5. PMID 12224846  0.037
2014 Gissy J, Johnson T, Fox D, Kumar A, Ciafaloni E, Kim S, Yang M, van Essen A, Finkel R. T.P.2 Neuromuscular Disorders. 24: 860-861. DOI: 10.1016/j.nmd.2014.06.225  0.034
2015 Johnson NE, Hung M, Nasser E, Hagerman KA, Chen W, Ciafaloni E, Heatwole CR. The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study. Journal of Neuromuscular Diseases. 2: 447-452. PMID 27858748 DOI: 10.3233/JND-150095  0.032
2016 Ciafaloni E, Kumar A, Liu K, Pandya S, Westfield C, Fox DJ, Caspers Conway KM, Cunniff C, Mathews K, West N, Romitti PA, McDermott MP. Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet. Journal of Pediatric Rehabilitation Medicine. 9: 5-11. PMID 26966795 DOI: 10.3233/Prm-160361  0.031
2022 Deng S, Lee BH, Ciafaloni E, Mackenzie SJ. The 4-copy conundrum in the treatment of infants with spinal muscular atrophy. Annals of Neurology. PMID 35338521 DOI: 10.1002/ana.26358  0.028
2019 Ciafaloni E, Russman BS. Nusinersen for spinal muscular atrophy: Not just for babies? Neurology. 92: 985-986. PMID 31019098 DOI: 10.1212/WNL.0000000000007559  0.027
2020 Koenig E, Shieh P, Abdel-Hamid H, Connolly A, McDonald C, Steiner D, Malhotra J, Khan N, Hu W, Han B, Ciafaloni E. DMD – THERAPY Neuromuscular Disorders. 30: S131. DOI: 10.1016/j.nmd.2020.08.286  0.022
2019 Lee BH, Collins E, Lewis L, Guntrum D, Eichinger K, Voter K, Abdel-Hamid HZ, Ciafaloni E. Combination therapy with nusinersen and AVXS-101 in SMA type 1. Neurology. PMID 31488615 DOI: 10.1212/WNL.0000000000008207  0.019
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