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Emma Ciafaloni, M.D.

Emma Ciafaloni, M.D.


4.9 out of 5 stars
UR Medicine Faculty The University of Rochester Medical Faculty Group (URMFG) consists of over 900 specialist and primary care providers spanning 19 departments. URMFG is certified by the National Committee for Quality Assurance.
Accountable Health Partner Accountable Health Partners (AHP) is a network of over 2,000 community and UR medical faculty and a dozen leading hospitals throughout the region. AHP offers a full range of care.
Accepting New Patients



601 Elmwood Avenue, 1st Floor
Rochester, NY 14642

About Me

Certified Specialties

Neurology - American Board of Psychiatry & Neurology

Neuromuscular Medicine - American Board of Psychiatry & Neurology

Faculty Appointments

Professor - Department of Neurology, NMD (SMD)

Robert C. and Rosalyne H. Griggs Professor in Experimental Therapeutics of Neurological Disease - Department of Neurology (SMD)

Professor - Department of Obstetrics and Gynecology (SMD) - Joint

Professor - Department of Pediatrics (SMD) - Joint


Residency & Fellowship

Fellowship, Neuromuscular Medicine, Duke University Medical Center GME. 1999 - 2000

Residency, Neurology, Duke University Medical Center GME. 1996 - 1998

Internship, Internal Medicine, Duke University Medical Center GME. 1995 - 1996

Residency, Neurology, Duke University Medical Center GME. 1994 - 1995

Residency, Neurology, Universita Degli Studi Di Milano. 1989 - 1993

Internship, Neuromuscular Medicine, Universita Degli Studi Di Milano. 1988 - 1990


MD | Universita Degli Studi di Milano (Italy). 1989


Guide to America's Top Physicians. 2012

Patient and Family –Centered-Care Award. 2011

Elected by her peers for inclusion in Best Doctors in America. 2007

Pharmacia & Upjohn Research Award: For Outstanding Research in Myasthenia Gravis. 2000


Dr. Ciafaloni has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, and sleep disorders in neuromuscular diseases.

She has been involved in clinical care, research, education...
Dr. Ciafaloni has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, 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, Cell Cept in myasthenia gravis, Dichlorphenamide (DCP) in periodic paralyses, Mexiletine in myotonia congenital, and Ataluren (PTC124) in Duchenne muscular dystrophy. She is Chair of the Clinical Research Committee of the Muscular Dystrophy Surveillance Tracking and Research Network (MDSTARnet), a CDC funded project on Becker/Duchenne muscular dystrophy( 2004-present).

She is currently Site Investigator for the following Clinical Trials:
1. FOR-DMD: Double-blind randomized trial to optimize steroid regimen in Duchenne MD (1 R01 NS061799-01A2)
2. A Phase II Trial of Rituximab in Myasthenia Gravis- neuroNEXT
3. An Open-Label, Multi-Center Study to Evaluate the Safety and Tolerability of Eteplirsen in Patients with Advanced Stage Duchenne Muscular Dystrophy (Sarepta)
4. An Open-Label, Multi-Center, 48-Week Study with a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy (Sarepta)
5. A Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy (Marathon Pharmaceuticals, LLC)
6. An Open-Label, Long-Term Extension Study to Evaluate the Safety and Tolerability of Deflazacort in Duchenne Muscular Dystrophy (Marathon Pharmaceuticals, LLC)

Clinical Trials

A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of SRP- 9001 in Non-Ambulatory and Ambulatory Subjects With Duchenne Muscular Dystrophy (ENVISION)

Lead Researcher: Emma Ciafaloni

DMD is caused by a non-working gene that causes an important protein called dystrophin to not be made properly. Dystrophin helps protect the muscles from breaking down and becoming weaker. This study will help researchers find out if replacing the no...


Journal Articles

Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy.

Rosero S, Weinstein J, Seabury J, Varma A, Dilek N, Zizzi C, Coffey M, Greco B, Heatwole J, Alexandrou D, Guntrum D, Ciafaloni E, Heatwole C

Muscle & nerve.. 2024 May 8 Epub 05/08/2024.

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.

Lietsch M, Chan K, Taylor J, Lee BH, Ciafaloni E, Kwon JM, Waldrop MA, Butterfield RJ, Rathore G, Veerapandiyan A, Kapil A, Parsons JA, Gibbons M, Brower A

International journal of neonatal screening.. 2024 April 1810 (2)Epub 04/18/2024.

The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.

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

Journal of neuromuscular diseases.. 2024 January 4 Epub 01/04/2024.

Prophylactic use of cardiac medications for delay of left ventricular dysfunction in Duchenne muscular dystrophy.

Conway KM, Thomas S, Ciafaloni E, Khan RS, Mann JR, Romitti PA, Mathews KD,

Birth defects research.. 2023 October 18 Epub 10/18/2023.

Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial.

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, Carstensen TD, Bonefeld K, Jørgensen AN, Phonekeo K, Heim AJ, Herbelin L, Barohn RJ, Hanna MG, Dimachkie MM,

The Lancet. Neurology.. 2023 October 22 (10):900-911. Epub 1900 01 01.

Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.

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, Weinberger B, Ellington M, Schleien C, Spinazzola R, Sood S, Brower A, Lloyd-Puryear M, Caggana M,

Annals of clinical and translational neurology.. 2023 June 23 Epub 06/23/2023.

Racial and ethnic differences in timing of diagnosis and clinical services received in Duchenne Muscular Dystrophy.

Mann JR, Zhang Y, McDermott S, Wang Y, Cai B, Conway KM, Paramsothy P, Royer J, Venkatesh S, Howard JF, Ciafaloni E

Neuroepidemiology.. 2023 January 9 Epub 01/09/2023.

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies.

Ramani PK, Fawcett K, Guntrum D, Samuel H, Ciafaloni E, Veerapandiyan A

Child neurology open.. 2023 10 :2329048X231159484. Epub 02/22/2023.

Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications.

Mercuri E, Pane M, Cicala G, Brogna C, Ciafaloni E

Frontiers in pediatrics.. 2023 11 :1276144. Epub 11/10/2023.

Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.

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, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E

Neurology.. 2022 July 14 Epub 07/14/2022.

Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.

Paramsothy P, Wang Y, Cai B, Conway KM, Johnson NE, Pandya S, Ciafaloni E, Mathews KD, Romitti PA, Howard JF, Riley C

Neuromuscular disorders : NMD.. 2022 April 30 Epub 04/30/2022.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

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, Griggs RC, , Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T

JAMA.. 2022 April 5 Epub 04/05/2022.

The 4-copy conundrum in the treatment of infants with spinal muscular atrophy.

Deng S, Lee BH, Ciafaloni E, Mackenzie SJ

Annals of neurology.. 2022 March 25 Epub 03/25/2022.

Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), 2000-2015.

Thomas S, Conway KM, Fapo O, Street N, Mathews KD, Mann J, Romitti PA, Soim A, Westfield C, Fox DJ, Ciafaloni E,

Muscle & nerve.. 2022 March 21 Epub 03/21/2022.

Phase 2 Trial of Rituximab in Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis: The BeatMG Study.

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, Sams LA, Quan D, Ubogu E, Pearson B, Sharma A, Yankey JW, Uribe L, Shy M, Amato AA, Conwit R, O'Connor KC, Hafler DA, Cudkowicz ME, Barohn RJ,

Neurology.. 2021 December 2 Epub 12/02/2021.

Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening.

Deng S, Lee BH, Ciafaloni E

Journal of child neurology.. 2021 November 9 :8830738211040292. Epub 11/09/2021.

Differentiation of Pediatric-Onset Duchenne and Becker Muscular Dystrophy Subphenotypes Using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet).

Andrews JG, Lamb M, Conway K, Street N, Westfield C, Ciafaloni E, Matthews D, Pandya S,

Journal of neuromuscular diseases.. 2021 November 6 Epub 11/06/2021.

Health Profile of Preterm Males With Duchenne Muscular Dystrophy.

Soim A, Wallace B, Whitehead N, Smith MG, Mann JR, Thomas S, Ciafaloni E,

Journal of child neurology.. 2021 October 22 :8830738211047019. Epub 10/22/2021.

Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR).

Mathews KD, Conway KM, Gedlinske AM, Johnson N, Street N, Butterfield RJ, Hung M, Ciafaloni E, Romitti PA

Children.. 2021 September 238 (10)Epub 09/23/2021.

Achieving Life Milestones in Duchenne/Becker Muscular Dystrophy: A Retrospective Analysis.

Donaldson A, Guntrum D, Ciafaloni E, Statland J

Neurology. Clinical practice.. 2021 August 11 (4):311-317. Epub 1900 01 01.

Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis.

Sansone VA, Johnson NE, Hanna MG, Ciafaloni E, Statland JM, Shieh PB, Cohen F, Griggs RC

Muscle & nerve.. 2021 June 15 Epub 06/15/2021.

Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial.

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,

Journal of neuromuscular diseases.. 2021 June 8 Epub 06/08/2021.

Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy.

Lee BH, Waldrop MA, Connolly AM, Ciafaloni E

Muscle & nerve.. 2021 May 7 Epub 05/07/2021.

The Spinal Muscular Atrophy Health Index (SMA-HI): A Novel Outcome for Measuring How a Patient Feels and Functions.

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

Muscle & nerve.. 2021 March 12 Epub 03/12/2021.

Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.

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, Galindo M, Whitehead N, Johnson N, Butterfield RJ, Pandya S, Venkatesh S, Bhattaram VA

Muscle & nerve.. 2020 November 5 Epub 11/05/2020.

Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.

Lee BH, Mongiovi P, Levade T, Marston B, Mountain J, Ciafaloni E

American journal of medical genetics. Part A.. 2020 July 5 Epub 07/05/2020.

Minimal manifestation status and prednisone withdrawal in the MGTX trial.

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, Witoonpanich R, King JO, Beydoun SR, Chalk CH, Barboi AC, Amato AA, Shaibani AI, Katirji B, Lecky BRF, Buckley C, Vincent A, Dias-Tosta E, Yoshikawa H, Waddington-Cruz M, Pulley MT, Rivner MH, Kostera-Pruszczyk A, Pascuzzi RM, Jackson CE, Verschuuren JJG, Massey JM, Kissel JT, Werneck LC, Benatar M, Barohn RJ, Tandan R, Mozaffar T, Conwit R, Minisman G, Sonett JR, Wolfe GI,

Neurology.. 2020 July 1 Epub 07/01/2020.

Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI).

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,

Journal of the peripheral nervous system : JPNS.. 2020 June 8 Epub 06/08/2020.

Myasthenia gravis patient and physician opinions about immunosuppressant reduction.

Hehir MK, Punga AR, Ciafaloni E

Muscle & nerve.. 2020 June 61 (6):767-772. Epub 03/20/2020.

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.

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, Delfiner L, Sakonju A, Caggana M

Genetics in medicine : official journal of the American College of Medical Genetics.. 2020 May 18 Epub 05/18/2020.

The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.

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

Muscle & nerve.. 2020 April 24 Epub 04/24/2020.

Spinal muscular atrophy care in the COVID-19 pandemic era.

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

Muscle & nerve.. 2020 April 24 Epub 04/24/2020.

Left ventricular dysfunction in Duchenne muscular dystrophy.

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

Cardiology in the young.. 2020 January 22 :1-6. Epub 01/22/2020.

Dropped Head Syndrome: An Update on Etiology and Surgical Management.

Brodell JD, Sulovari A, Bernstein DN, Mongiovi PC, Ciafaloni E, Rubery PT, Mesfin A

JBJS reviews.. 2020 January 8 (1):e0068. Epub 1900 01 01.

Medical management of muscle weakness in Duchenne muscular dystrophy.

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, Connolly AM, Mathews KD

PloS one.. 2020 15 (10):e0240687. Epub 10/19/2020.

Myasthenia Gravis and Congenital Myasthenic Syndromes.

Ciafaloni E

Continuum : lifelong learning in neurology.. 2019 December 25 (6):1767-1784. Epub 1900 01 01.

Nusinersen for older patients with spinal muscular atrophy: A real-world clinical setting experience.

Veerapandiyan A, Eichinger K, Guntrum D, Kwon J, Baker L, Collins E, Ciafaloni E

Muscle & nerve.. 2019 November 26 Epub 11/26/2019.

Combination therapy with nusinersen and AVXS-101 in SMA type 1.

Lee BH, Collins E, Lewis L, Guntrum D, Eichinger K, Voter K, Abdel-Hamid HZ, Ciafaloni E

Neurology.. 2019 October 193 (14):640-641. Epub 09/05/2019.

Efficacy and Safety of Dichlorphenamide for Primary Periodic Paralysis in Adolescents Compared With Adults.

Ciafaloni E, Cohen F, Griggs R

Pediatric neurology.. 2019 August 7 Epub 08/07/2019.

Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy.

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

World journal of pediatrics : WJP.. 2019 June 15 (3):219-225. Epub 03/23/2019.

Nusinersen for spinal muscular atrophy: Not just for babies?

Ciafaloni E, Russman BS

Neurology.. 2019 May 2192 (21):985-986. Epub 04/24/2019.

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.

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, Witoonpanich R, King JO, Beydoun SR, Chalk CH, Barboi AC, Amato AA, Shaibani AI, Katirji B, Lecky BRF, Buckley C, Vincent A, Dias-Tosta E, Yoshikawa H, Waddington-Cruz M, Pulley MT, Rivner MH, Kostera-Pruszczyk A, Pascuzzi RM, Jackson CE, Verschuuren JJGM, Massey JM, Kissel JT, Werneck LC, Benatar M, Barohn RJ, Tandan R, Mozaffar T, Silvestri NJ, Conwit R, Sonett JR, Jaretzki A, Newsom-Davis J, Cutter GR,

The Lancet. Neurology.. 2019 March 18 (3):259-268. Epub 01/25/2019.

Evidence in focus: Nusinersen use in spinal muscular atrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Michelson D, Ciafaloni E, Ashwal S, Lewis E, Narayanaswami P, Oskoui M, Armstrong MJ

Neurology.. 2018 November 1391 (20):923-933. Epub 10/12/2018.

Cervical puncture to deliver nusinersen in patients with spinal muscular atrophy.

Veerapandiyan A, Pal R, D'Ambrosio S, Young I, Eichinger K, Collins E, Westesson PL, Kwon J, Ciafaloni E

Neurology.. 2018 August 1491 (7):e620-e624. Epub 07/13/2018.

Health profile of a cohort of adults with Duchenne muscular dystrophy.

Pandya S, James KA, Westfield C, Thomas S, Fox DJ, Ciafaloni E, Moxley RT

Muscle & nerve.. 2018 August 58 (2):219-223. Epub 03/30/2018.

Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies.

Conway KM, Ciafaloni E, Matthews D, Westfield C, James K, Paramsothy P, Romitti PA

Disability and rehabilitation.. 2018 July 40 (15):1773-1780. Epub 04/11/2017.

Is There a Delay in Diagnosis of Duchenne Muscular Dystrophy Among Preterm-Born Males?

Soim A, Smith MG, Kwon JM, Mann JR, Thomas S, Ciafaloni E,

Journal of child neurology.. 2018 July 33 (8):537-545. Epub 05/15/2018.

Implementation of Duchenne Muscular Dystrophy Care Considerations.

Andrews JG, Conway K, Westfield C, Trout C, Meaney FJ, Mathews K, Ciafaloni E, Cunniff C, Fox DJ, Matthews D, Pandya S

Pediatrics.. 2018 July 142 (1)Epub 06/20/2018.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

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, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M

Trials.. 2018 May 1019 (1):291. Epub 05/10/2018.

An Update: Myasthenia Gravis and Pregnancy.

Hamel J, Ciafaloni E

Neurologic clinics.. 2018 May 36 (2):355-365. Epub 1900 01 01.

Bone Health and Endocrine Care of Boys with Duchenne Muscular Dystrophy: Data from the MD STARnet.

Weber DR, Thomas S, Erickson SW, Fox D, Oleszek J, Pandya S, Venkatesh Y, Westfield C, Ciafaloni E

Journal of neuromuscular diseases.. 2018 5 (4):497-507. Epub 1900 01 01.

Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1.

Andrews JG, Lamb M, Conway K, Street N, Westfield C, Ciafaloni E, Matthews D, Cunniff C, Pandya S, Fox DJ, STARnet MD

Journal of neuromuscular diseases.. 2018 5 (4):481-495. Epub 1900 01 01.

Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials.

Gissy JJ, Johnson T, Fox DJ, Kumar A, Ciafaloni E, van Essen AJ, Peay HL, Martin A, Lucas A, Finkel RS,

Neuromuscular disorders : NMD.. 2017 October 27 (10):905-910. Epub 07/21/2017.

Noninvasive Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy Since 1979-Reply.

Andrews JG, Soim A, Pandya S, Westfield CP, Ciafaloni E, Fox DJ, Birnkrant DJ, Cunniff CM, Sheehan DW

Respiratory care.. 2017 August 62 (8):1121-1122. Epub 1900 01 01.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

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, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC

Contemporary clinical trials.. 2017 July 58 :34-39. Epub 04/24/2017.

Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy.

Latimer R, Street N, Conway KC, James K, Cunniff C, Oleszek J, Fox D, Ciafaloni E, Westfield C, Paramsothy P,

Journal of child neurology.. 2017 June 32 (7):663-670. Epub 04/09/2017.

Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment.

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

World journal of pediatrics : WJP.. 2017 June 13 (3):197-201. Epub 05/17/2017.

Dysregulation of B Cell Repertoire Formation in Myasthenia Gravis Patients Revealed through Deep Sequencing.

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

The Journal of immunology : official journal of the American Association of Immunologists.. 2017 February 15198 (4):1460-1473. Epub 01/13/2017.

Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources.

Frishman N, Conway KC, Andrews J, Oleson J, Mathews K, Ciafaloni E, Oleszek J, Lamb M, Matthews D, Paramsothy P, McKirgan L, Romitti P

Health and quality of life outcomes.. 2017 February 1015 (1):33. Epub 02/10/2017.

Respiratory Care Received by Individuals With Duchenne Muscular Dystrophy From 2000 to 2011.

Andrews JG, Soim A, Pandya S, Westfield CP, Ciafaloni E, Fox DJ, Birnkrant DJ, Cunniff CM, Sheehan DW,

Respiratory care.. 2016 October 61 (10):1349-59. Epub 08/09/2016.

Randomized Trial of Thymectomy in Myasthenia Gravis.

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, Witoonpanich R, King JO, Beydoun SR, Chalk CH, Barboi AC, Amato AA, Shaibani AI, Katirji B, Lecky BR, Buckley C, Vincent A, Dias-Tosta E, Yoshikawa H, Waddington-Cruz M, Pulley MT, Rivner MH, Kostera-Pruszczyk A, Pascuzzi RM, Jackson CE, Garcia Ramos GS, Verschuuren JJ, Massey JM, Kissel JT, Werneck LC, Benatar M, Barohn RJ, Tandan R, Mozaffar T, Conwit R, Odenkirchen J, Sonett JR, Jaretzki A, Newsom-Davis J, Cutter GR,

The New England journal of medicine.. 2016 August 11375 (6):511-22. Epub 1900 01 01.

Corticosteroid Treatment and Growth Patterns in Ambulatory Males with Duchenne Muscular Dystrophy.

Lamb MM, West NA, Ouyang L, Yang M, Weitzenkamp D, James K, Ciafaloni E, Pandya S, DiGuiseppi C,

The Journal of pediatrics.. 2016 June 173 :207-213.e3. Epub 03/30/2016.

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

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, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC,

Neurology.. 2016 April 1286 (15):1408-1416. Epub 02/10/2016.

Health services received by individuals with duchenne/becker muscular dystrophy.

Pandya SK, Campbell KA, Andrews JG, Meaney FJ, Ciafaloni E

Muscle & nerve.. 2016 February 53 (2):191-7. Epub 12/29/2015.

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

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, Dimberg E, De Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM, Hehir MK, Hobson-Webb LD, Howard JF, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Sheih PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI

Muscle & nerve.. 2016 February 53 (2):165-8. Epub 12/21/2015.

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.

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

Journal of pediatric rehabilitation medicine.. 2016 9 (1):5-11. Epub 1900 01 01.

The course and outcome of pregnancy in women with nondystrophic myotonias.

Snyder Y, Donlin-Smith C, Snyder E, Pressman E, Ciafaloni E

Muscle & nerve.. 2015 December 52 (6):1013-5. Epub 05/23/2015.

The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study.

Johnson NE, Hung M, Nasser E, Hagerman KA, Chen W, Ciafaloni E, Heatwole CR

Journal of neuromuscular diseases.. 2015 October 72 (4):447-452. Epub 1900 01 01.

Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.

James KA, Cunniff C, Apkon SD, Mathews K, Lu Z, Holtzer C, Pandya S, Ciafaloni E, Miller L

Journal of pediatric orthopedics.. 2015 September 35 (6):640-4. Epub 1900 01 01.

Prevalence of Duchenne and Becker muscular dystrophies in the United States.

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,

Pediatrics.. 2015 March 135 (3):513-21. Epub 02/16/2015.

Cystic fibrosis newborn screening: a model for neuromuscular disease screening?

Scully MA, Farrell PM, Ciafaloni E, Griggs RC, Kwon JM

Annals of neurology.. 2015 February 77 (2):189-97. Epub 12/13/2014.

Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.

Imbornoni L, Price ET, Andrews J, Meaney FJ, Ciafaloni E, Cunniff C

American journal of medical genetics. Part A.. 2014 November 164A (11):2769-74. Epub 08/14/2014.

Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?

Peay HL, Scully MA, Cwik VA, Ciafaloni E, Griggs RC

Neurology.. 2013 November 1281 (20):1802. Epub 1900 01 01.

Fat embolism syndrome in patients with Duchenne muscular dystrophy.

Medeiros MO, Behrend C, King W, Sanders J, Kissel J, Ciafaloni E

Neurology.. 2013 April 280 (14):1350-2. Epub 03/20/2013.

Myasthenia gravis: Five new things.

Statland JM, Ciafaloni E

Neurology. Clinical practice.. 2013 April 3 (2):126-133. Epub 1900 01 01.

Double trouble in a patient with myotonia.

Hehir MK, Logigian E, Raja Rayan DL, Ciafaloni E

BMJ case reports.. 2013 February 142013 Epub 02/14/2013.

Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?

Scully MA, Cwik VA, Marshall BC, Ciafaloni E, Wolff JM, Getchius TS, Griggs RC

Neurology.. 2013 February 580 (6):583-9. Epub 1900 01 01.

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy.

Nabukera SK, Romitti PA, Caspers KM, Street N, Cunniff C, Mathews KD, Fox DJ, Puzhankara S, Ciafaloni E, James KA, Su Y,

American journal of medical genetics. Part A.. 2013 January 161A (1):70-5. Epub 12/13/2012.

Introduction for myasthenia gravis and related disorders.

Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL

Annals of the New York Academy of Sciences.. 2012 December 1274 :vii-viii. Epub 1900 01 01.

Introduction for Myasthenia Gravis and Related Disorders.

Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL

Annals of the New York Academy of Sciences.. 2012 December 1275 :vii-viii. Epub 1900 01 01.

Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial.

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,

JAMA.. 2012 October 3308 (13):1357-65. Epub 1900 01 01.

Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy.

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

Journal of child neurology.. 2012 June 27 (6):734-40. Epub 12/07/2011.

Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy.

Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C

Genetics in medicine : official journal of the American College of Medical Genetics.. 2011 November 13 (11):942-7. Epub 1900 01 01.

Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy.

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

Journal of child neurology.. 2010 November 25 (11):1319-24. Epub 03/05/2010.

Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management.

Moxley RT, Pandya S, Ciafaloni E, Fox DJ, Campbell K

Journal of child neurology.. 2010 September 25 (9):1116-29. Epub 06/25/2010.

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.

Mathews KD, Cunniff C, Kantamneni JR, Ciafaloni E, Miller T, Matthews D, Cwik V, Druschel C, Miller L, Meaney FJ, Sladky J, Romitti PA

Journal of child neurology.. 2010 September 25 (9):1098-102. Epub 1900 01 01.

Hydroxychloroquine-induced myopathy.

Kwon JB, Kleiner A, Ishida K, Godown J, Ciafaloni E, Looney RJ

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.. 2010 January 16 (1):28-31. Epub 1900 01 01.

Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007.

MMWR. Morbidity and mortality weekly report.. 2009 October 1658 (40):1119-22. Epub 1900 01 01.

Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

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

The Journal of pediatrics.. 2009 September 155 (3):380-5. Epub 04/25/2009.

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

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

Journal of child neurology.. 2009 April 24 (4):425-30. Epub 12/12/2008.

Newborn screening for Krabbe disease: the New York State model.

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

Pediatric neurology.. 2009 April 40 (4):245-52; discussion 253-5. Epub 1900 01 01.

Mycophenolate mofetil for myasthenia gravis: a clear and present controversy.

Heatwole C, Ciafaloni E

Neuropsychiatric disease and treatment.. 2008 December 4 (6):1203-9. Epub 1900 01 01.

Comparison of outcome measures from a trial of mycophenolate mofetil in myasthenia gravis.

Wolfe GI, Barohn RJ, Sanders DB, McDermott MP,

Muscle & nerve.. 2008 November 38 (5):1429-1433. Epub 1900 01 01.

Less is more, or almost as much: a 15-item quality-of-life instrument for myasthenia gravis.

Burns TM, Conaway MR, Cutter GR, Sanders DB,

Muscle & nerve.. 2008 August 38 (2):957-63. Epub 1900 01 01.

Disease-specific measure of quality of life for myasthenia gravis.

Mullins LL, Carpentier MY, Paul RH, Sanders DB,

Muscle & nerve.. 2008 August 38 (2):947-56. Epub 1900 01 01.

Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1.

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

The New England journal of medicine.. 2008 June 19358 (25):2688-97. Epub 1900 01 01.

Treatment options for Duchenne muscular dystrophy.

Ciafaloni E, Moxley RT

Current treatment options in neurology.. 2008 March 10 (2):86-93. Epub 1900 01 01.

The hypocretin neurotransmission system in myotonic dystrophy type 1.

Ciafaloni E, Mignot E, Sansone V, Hilbert JE, Lin L, Lin X, Liu LC, Pigeon WR, Perlis ML, Thornton CA

Neurology.. 2008 January 1570 (3):226-30. Epub 1900 01 01.

Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.

Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT, Thornton CA

Muscle & nerve.. 2007 April 35 (4):479-85. Epub 1900 01 01.

Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy.

Ciafaloni E, Pressman EK, Loi AM, Smirnow AM, Guntrum DJ, Dilek N, Tawil R

Neurology.. 2006 November 2867 (10):1887-9. Epub 1900 01 01.

The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology.

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

Birth defects research. Part A, Clinical and molecular teratology.. 2006 November 76 (11):793-7. Epub 1900 01 01.

The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) -Surveillance Methodology

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.

Surveillance Methodology. Birth Defects Res A Clin Mol Teratol. 2006; 76(11): 793-7.

Mycophenolate mofetil and myasthenia gravis.

Ciafaloni E

Lupus.. 2005 14 Suppl 1 :s46-9. Epub 1900 01 01.

Myasthenia gravis and pregnancy.

Ciafaloni E, Massey JM

Neurologic clinics.. 2004 November 22 (4):771-82. Epub 1900 01 01.

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.

Cagliani R, Sironi M, Ciafaloni E, Bardoni A, Fortunato F, Prelle A, Serafini M, Bresolin N, Comi GP

Human genetics.. 2004 June 115 (1):13-8. Epub 04/30/2004.

The management of myasthenia gravis in pregnancy.

Ciafaloni E, Massey JM

Seminars in neurology.. 2004 March 24 (1):95-100. Epub 1900 01 01.

Mycophenolate mofetil for myasthenia gravis: an analysis of efficacy, safety, and tolerability.

Meriggioli MN, Ciafaloni E, Al-Hayk KA, Rowin J, Tucker-Lipscomb B, Massey JM, Sanders DB

Neurology.. 2003 November 2561 (10):1438-40. Epub 1900 01 01.

Antibodies in sera of patients with late-onset myasthenia gravis recognize the PEVK domain of titin.

Mihovilovic M, Ciafaloni E, Butterworth-Robinette J, Jin JP, Massey J, Sanders DB

Annals of the New York Academy of Sciences.. 2003 September 998 :351-5. Epub 1900 01 01.

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

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

Neurology.. 2002 December 1059 (11):1689-93. Epub 1900 01 01.

Excessive daytime somnolence and increased rapid eye movement pressure in myotonic dystrophy.

Gibbs JW, Ciafaloni E, Radtke RA

Sleep.. 2002 September 1525 (6):662-5. Epub 1900 01 01.

Treatment of myasthenia gravis: current practice and future directions.

Ciafaloni E, Sanders DB

Expert review of neurotherapeutics.. 2002 September 2 (5):743-8. Epub 1900 01 01.

Advances in myasthenia gravis.

Ciafaloni E, Sanders DB

Current neurology and neuroscience reports.. 2002 January 2 (1):89-95. Epub 1900 01 01.

Treatment of Myasthenia Gravis: current practice and future directions

Ciafaloni E, and Sanders DB.

Expert Rev. Neurotherapeutics. 2002; 2(5): 743-748.

Effect of thymectomy on human peripheral blood T cell pools in myasthenia gravis.

Sempowski G, Thomasch J, Gooding M, Hale L, Edwards L, Ciafaloni E, Sanders D, Massey J, Douek D, Koup R, Haynes B

The Journal of immunology : official journal of the American Association of Immunologists.. 2001 February 15166 (4):2808-17. Epub 1900 01 01.

Mycophenolate mofetil for myasthenia gravis: an open-label pilot study.

Ciafaloni E, Massey JM, Tucker-Lipscomb B, Sanders DB

Neurology.. 2001 January 956 (1):97-9. Epub 1900 01 01.

Retrospective analysis of the use of cyclosporine in myasthenia gravis.

Ciafaloni E, Nikhar NK, Massey JM, Sanders DB

Neurology.. 2000 August 855 (3):448-50. Epub 1900 01 01.

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.

Comi GP, Ciafaloni E, de Silva HA, Prelle A, Bardoni A, Rigoletto C, Robotti M, Bresolin N, Moggio M, Fortunato F

Human molecular genetics.. 1995 November 4 (11):2171-4. Epub 1900 01 01.

Fourth meeting of the European Neurological Society 25-29 June 1994 Barcelona, Spain : Abstracts of Symposia and free communications.

Harms L, Bock A, JÄnisch W, Valdueza J, Weber J, Link I, De Keyser J, Goossens A, Wilczak N, Vedeler C, Bjorge L, Uvestad E, Conti G, Williams K, Ginsberg L, Rafique S, Rapoport SI, Gershfeld NL, De La Meilleure G, Crevits L, Faiss JH, Heye N, Blanke J, Sackmann A, Kastrup O, Doornbos R, van der Worp HB, Kappelle LJ, Bar PR, Davie CA, Barker GJ, Brenton D, Miller DH, Thompson AJ, Block F, Schwarz M, Delodovici L, Baruzzi F, Bonaldi G, Dario A, Marra A, Mercuri A, Dworzak F, Cavallari P, Confalonieri P, Zuffi M, Antozzi C, Cornelio F, Baldissera F, Chassande B, Ameri A, Eymard B, Poisson M, Vérier A, Brunet P, Congia S, Murgia PL, Cannas A, Borghero G, Uselli S, Mellino G, Ferrai R, Lampis R, Massa R, Muzzetto B, Giannini F, Rossi S, Cioni R, d'Aniello C, Guarneri A, Battistini N, Ceriani F, Del Santo A, Poloni M, Campo JF, Iglesias F, Guitera MV, Farinas C, Pascual J, Leno C, Berciano J, Thorpe IW, Kendall BE, McDonald WI, Moulignier A, Dromer F, Baudrimont M, Dupont B, Gozlan J, El 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Violleau K, Younes-Chennoufi AB, Baumann N, Villanueva-Hemandez P, Ballabriga J, Basart E, Arbizu TX, Perez-Serra J, Vinuels F, Giron JM, Castilla JM, Redondo L, Izquierdo G, Lauer K, Henneberg A, Bittmann N, Link D, Wollinsky KH, Mobner R, Fassbender K, Kuhnen J, Schwartz A, Hennerici M, Miller A, Lider O, Abramsky O, Weiner HL, Offner H, Vanderbark AA, Paoino E, Fainardi E, Addonizio MC, Ruppi P, Tola MR, Granieri E, Carreras M, Sazdovitch V, Joutel A, Verdier-Taillefer MH, Heinzlef O, Radder C, Tournier-Lasserve E, Brenner RE, Munro PM, Williams SC, Bell JD, Hawkins CP, Filippi M, Campi A, Dousset V, Canal N, Comi G, Zhu J, Weber F, Retska R, List J, Zhang L, Brock M, Taphoorn MJ, Heimans JJ, van der Veen EA, Karim AB, Sarazin M, Argentino N, Delattre JY, Derkinderen P, Buchwald B, Schroter G, Serve G, Franke CH, Conrad B, Kitchen ND, Thomas DG, Forman AD, Ang KK, Price R, Stephens C, Salmaggi A, Nermni R, Silvani A, Forno MG, Luksch R, Boiardi A, Grzelec H, Fryze C, Nowacki P, Zdziarska B, Sanson M, Merel P, Richard S, Rouleau G, Thomas G, Olsen NK, Pfeiffer P, Egund N, Bentzen SM, Johannesen L, Mondrup K, Rose C, Zyluk B, Wondrusch E, Berger O, Fast N, Jellinger K, Lindner K, Urman A, Thibault JL, Duyckaerts C, Strik H, Muller B, Richter E, Krauseneck P, Steinbrecher A, Schabet M, Hess C, Bamberg M, Dichgans J, Counsell CE, McLeod M, Grant R, Creel GB, Claus D, Sieber E, Engelhardt A, Rechlin T, Thierauf P, Neubauer U, Peresson M, Di Giovacchino G, Romani GL, Di Silverio F, Danek A, Kuffner M, Hoermann R, Schopohl J, Laska M, Heye B, Zangaladze AT, Valls-SoIè J, Cammarota A, Alvarez R, Tolosa E, Hallett M, Ulbricht D, Ganslandt O, Kober H, Vieth J, Grummich P, Pongratz H, Brigel C, Fahlbusch R, Serra FP, Palma V, Nolfe G, Buscaino GA, Rothstein TL, Gibson JM, Morrison PM, Collins AD, Eiselt M, Wagnur H, Zwiener U, Schindler T, Efendi H, Ertekin C, Erfas M, Larsson LE, Sirin H, AraÇ N, Toygar A, Demir Y, Seddigh S, Vogt TH, Hundemer H, Visbeck A, Pastena L, Faralli F, Mainardi G, Gagliardi R, Linden D, Berlit P, Lopez OL, Becker JT, Jungreis C, Brenner R, Rezek D, Dekesky ST, Estol C, Boller F, Fernandez JM, Mederer S, Batlle J, Turon A, Codina A, Hitzenberger P, Vila N, Valls-SolÇ J, Chamorro A, Pouget J, Schmied A, Morin D, Azulay JP, Vedel JP, Montalt J, Escudero J, Barona R, Campos A, Varli K, Ertem E, Uludag B, Yagiz A, Privorkin Z, Steinvil Y, Kott E, Combarros O, Sanchez-Pernaute R, Orizaola P, Mokrusch T, Kutluaye E, Selcuki D, Ertikin C, Zettl U, Gold R, Harvey GK, Hartung HP, Toyka KV, Wokke JH, Oey PL, Ippel PF, Jansen GH, Franssen H, Toyooka K, Fujimura H, Ueno S, Yoshikawa H, Yorifuji S, Yanagihara T, Talamon C, Tzourio C, Kiefer R, Jung S, Toyka K, Ruolt I, Tranchant C, Mohr M, Warter JM, Younger DS, Rosoklija G, Hays AP, Kurita R, Hasegawa O, Matsumto M, Komiyama A, Nara Y, Oueslati S, Belal S, Turki I, Ben Hamida C, Hentati F, Ben Hamida M, Kwiecinski H, Krolicki L, Domzal-Stryga A, Dellemijn PL, van Deventer P, van Moll 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CH, Walon C, Boucquey D, -Van Rijckevorsel KH, Lannoy N, Verellen-Dunoulin C, Liszka U, Cavaletti G, Casati B, Kolig C, Bogliun G, Marzorati L, Johannsen L, Chio A, Ruda R, Vigliani MC, Sciolla R, Seliak D, Hoang-Xuang K, Villanueva JA, Montalban X, Arboix A, Colosimo C, Albanese A, Hughes AJ, de Bruin V, Lees AJ, Kowalski JW, Banfi S, Santoro L, Perretti A, Castaldo I, Barbieri F, Campanella G, Bhatia KP, Mardsen CD, de Bruin VS, Machedo C, Ceballos-Baumann D, Marsden CD, Brooks DB, Wennlng GK, Quinn N, McDonald WL, Warner TT, Bain PC, Davis MB, Conway D, Shaunak S, O'Sullivan E, Crawford T, Lawden M, Blunt S, Rapoport A, Sarova-Pinchas I, de Beyl DZ, Mavroudakis N, Blanc S, Godinot C, Lenoir G, Barkhof MS, Tas MW, Baron PL, Constantin C, Cassatella MA, Langdon DW, Webb S, Gasparini P, Zeviani A, Kidd D, Mammi S, Cahalon L, Hershkoviz R, Lahat N, Wallach D, Annunziata P, Martino T, Maimone D, Guazzi GC, Porrini AM, Dell'Arciprete L, Rothwell PM, Stewart RR, Cull RE, Willmes K, Poeck K, Russell D, Braekken SK, Brucher R, Svennevig J, Hermesl M, Bruckmann H, Biraben A, Sliwka U, Meyer B, Schondube F, Noth J, Lavenu I, Lammers C, Waldecker B, Haberbosch W, Stam J, Schneider R, Gautier JC, Berlit TP, Fauser B, Kuhne D, Geraud G, Danielli A, Larrue V, Bes A, Timmerman E, Bono F, Bruni AC, Valalentino P, Montesi MP, Talerico G, Zappia M, Sabatelli M, Quattrone A, Pareyson D, Lorenzetti D, Sghirlanzoni A, Castellotti B, Lupski JR, Archidiacono N, Antonacci R, Marzella R, Rocchi M, Samuel D, Goulon-Goeau C, Costa PP, Bismuth H, Said G, De Jongh P, Lofgren A, Timmerman V, Vance JM, Van Broeckhoven C, Martin J-, Martinez AC, Bort S, Arpa J, Misra P, King RH, Badhia K, Anderson M, Caballo A, Vichez J, Gabriel JM, Erne B, Miescher GC, Ulrich J, Vital A, Vital C, Steck A, Petry K, Labatut I, Hilmi S, Ellie E, Ferrini-Strambi L, Zucconl M, Marchettini P, Palazzi S, Oehlschlager M, Pepinsky RB, Gemignani F, Marbini A, Pavesi G, Di Vittorio S, Manganelli P, Mancia D, Vermersh P, Roche J, Durocher AM, Dewailly P, Dettmers C, Fink G, Lemon R, Stephan K, Passingham D, Weder B, Knorr U, Huang Y, Butterfield DA, Peris ML, Peiro C, Pascual AP, Bottini G, Folnegovic-Smalc V, Knezevic S, Bokonjic R, Ersmark B, Torres MG, Guiraud-Chaumeil B, Haugaard K, Jovicic A, Chr L, Levic Z, Parra CM, Ochoa JP, Titlbach O, Wikkelso C, , Caparros-Lefevre D, Debachy B, Verier A, Cantinho G, Santos AI, Godinho F, Bagunya J, Roig T, Ensenyat A, Santiag O, Trabucchi H, De Leo D, Koch C, Zeumer H, Matkovic Z, Morris P, Donaghy M, Köhler W, Kammer T, Röther J, Navon R, Fontaine B, Wu Y, Capdevila A, Guardiola MJ, van Dijk GW, Notermans NC, Kruize AA, Kater L, Bertelt C, Hesse S, Friedrich H, Mauritz K-, Giron LT, Watanabe IS, Ewing D, Koepp M, Lempert T, Sander B, Kauerz U, Mehdorn HM, Hezel J, Eickhoff W, Kryst T, Timsit S, Gardeur D, Reis MG, Secor E, Filho AA, Silva MC, Santos SR, Vasilaski G, Reis EA, Velupillai P, Harn DA, Tigera JG, Dreke RM, Crespo RP, Besses C, Acin P, Massons J, Florensa L, Oliveres M, Sans-Sabrafen J, Wicklein EM, Pleiffer G, Kunre K, Dieterich M, Brandt T, Guarino M, Stracciari A, Pazzaglia P, D'Alessandro R, Santilli I, Donato M

Journal of neurology.. 1994 June 241 (Suppl 1):1-164. Epub 1900 01 01.

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S

Neurology.. 1993 June 43 (6):1200-6. Epub 1900 01 01.

Maternally inherited Leigh syndrome.

Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S

The Journal of pediatrics.. 1993 March 122 (3):419-22. Epub 1900 01 01.

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

Mosewich RK, Donat JR, DiMauro S, Ciafaloni E, Shanske S, Erasmus M, George D

Archives of neurology.. 1993 March 50 (3):275-8. Epub 1900 01 01.

Correlation between clinical and molecular features in two MELAS families.

Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, DiMauro S, Angelini C

Journal of the neurological sciences.. 1992 December 113 (2):222-9. Epub 1900 01 01.

Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA.

Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA

Journal of the neurological sciences.. 1992 September 111 (2):222-6. Epub 1900 01 01.

MELAS: clinical features, biochemistry, and molecular genetics.

Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C

Annals of neurology.. 1992 April 31 (4):391-8. Epub 1900 01 01.

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S

Neurology.. 1991 October 41 (10):1663-4. Epub 1900 01 01.

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S

Annals of neurology.. 1991 June 29 (6):680-3. Epub 1900 01 01.

Muscle biopsy in Alzheimer's disease: morphological and biochemical findings.

Mariani C, Bresolin N, Farina E, Moggio M, Ferrante C, Ciafaloni E, Sertorelli S, Ciccone A, Scarlato G

Clinical neuropathology.. 1991 10 (4):171-6. Epub 1900 01 01.

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

Bresolin N, Doriguzzi C, Ponzetto C, Angelini C, Moroni I, Castelli E, Cossutta E, Binda A, Gallanti A, Gabellini S

Journal of the neurological sciences.. 1990 December 100 (1-2):70-8. Epub 1900 01 01.


Neuromuscular Disorders (2011)

Chapter: Myasthenia Gravis

Authors: Emma Ciafaloni

Publisher: Wiley-Blackwell 2011

Disorders of Voluntary Muscle (2010)

Chapter: Electrophysiological evaluation of suspected myopathy.

Authors: Logigian E. and Ciafaloni E.

Publisher: Karpati, Hilton-Jones, Bushby, Griggs 2010

Andreoli and Carpenter's Cecil Essentials of Medicine (2010)

Chapter: Neuromuscular Junction Disease

Authors: Ciafaloni E.

Publisher: Saunders Elsevier 2010

Pediatric Clinical Advisor (2007)

Chapter: Myasthenia Gravis

Authors: Ciafaloni E.

Publisher: Mosby Elsevieer 2007

Pediatric Clinical Advisor (2007)

Chapter: Muscular Dystrophy

Authors: Ciafaloni E.

Publisher: Mosby Elsevier 2007

American Academy of Pediatrics, Textbook of Pediatric Care (2006)

Chapter: Muscular Dystrophy s

Authors: Moxley RT and Ciafaloni E.

Publisher: - 2006

Clinical Neurophysiology of disorders of muscle and neuromuscular junction (2003)

Chapter: Mitochondrial diseases

Authors: Ciafaloni E, and Arnaudo E

Publisher: Elsevier 2003

Neurologic Disorders in Pregnancy (2003)

Chapter: Myasthenia Gravis and Pregnancy

Authors: Ciafaloni E, Massey JM

Publisher: Parthenon Publishing 2003

Clinical Evaluation and Diagnostic Tests for Neuromuscular Disorders (2002)

Chapter: Repetitive Stimulation Tests

Authors: Ciafaloni E, and Massey JM

Publisher: Butterworth-Heinemann, Woburn, MA 2002

unknown (1990)

Chapter: Familiar cases of mitochondrial myopathies: mtDNA deletions and genetic analysis

Authors: Bresolin N, Moroni I, Ciafaloni E, Moggio M, Meola G, Gatti A, and Scarlato G

Publisher: Chapman and Hall Ltd. of London 1990

Ratings & Comments

At URMC, we believe that patients should be empowered to make the right decisions regarding their personal healthcare. To do so, transparency is critical. URMC partners with Press Ganey, to survey our patients about all aspects of their care experience. We are now putting this pertinent information at your fingertips by displaying star ratings for our providers along with anonymous patient comments on our website. This will help you make better-informed choices about how and with whom you seek care. Click here to learn more about the surveys used to generate this vital information. Learn more about our survey process.


During this visit, did this provider spend enough time with you?

4.9 stars

During this visit, did this provider show respect for what you had to say?

4.9 stars

During this visit, did this provider give you easy to understand information about these health questions or concerns?

5.0 stars

During this visit, did this provider listen carefully to you?

5.0 stars

During this visit, did this provider explain things in a way that was easy to understand?

4.9 stars

Patient Comments

4.2 stars

I didn't know anything about this sickness she did her best to explain.

Jan 09, 2024

5.0 stars

I am grateful to have Dr. Ciafaloni to my doctor.

Jul 13, 2023

5.0 stars

Took a lot of time explaining illness and likely progression and potential treatments.

Jun 28, 2023

5.0 stars

Terrific in all respects.

May 04, 2023

5.0 stars

They are the best available

Jun 25, 2022