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Items: 1 to 50 of 85

1.

Myasthenia Gravis and Congenital Myasthenic Syndromes.

Ciafaloni E.

Continuum (Minneap Minn). 2019 Dec;25(6):1767-1784. doi: 10.1212/CON.0000000000000800.

PMID:
31794470
2.

Nusinersen for older patients with SMA: a real-world clinical setting experience.

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

Muscle Nerve. 2019 Nov 26. doi: 10.1002/mus.26769. [Epub ahead of print]

PMID:
31773738
3.

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

Ciafaloni E, Cohen F, Griggs R.

Pediatr Neurol. 2019 Dec;101:43-46. doi: 10.1016/j.pediatrneurol.2019.07.019. Epub 2019 Aug 7.

4.

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 Oct 1;93(14):640-641. doi: 10.1212/WNL.0000000000008207. Epub 2019 Sep 5. No abstract available.

PMID:
31488615
5.

Nusinersen for spinal muscular atrophy: Not just for babies?

Ciafaloni E, Russman BS.

Neurology. 2019 May 21;92(21):985-986. doi: 10.1212/WNL.0000000000007559. Epub 2019 Apr 24. No abstract available.

PMID:
31019098
6.

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 J Pediatr. 2019 Jun;15(3):219-225. doi: 10.1007/s12519-019-00242-6. Epub 2019 Mar 23.

PMID:
30904991
7.

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 3rd, Newsom-Davis J, Cutter GR; MGTX Study Group.

Lancet Neurol. 2019 Mar;18(3):259-268. doi: 10.1016/S1474-4422(18)30392-2. Epub 2019 Jan 25.

PMID:
30692052
8.

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

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

J Neuromuscul Dis. 2018;5(4):481-495. doi: 10.3233/JND-180306.

9.

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 Nov 13;91(20):923-933. doi: 10.1212/WNL.0000000000006502. Epub 2018 Oct 12.

PMID:
30315070
10.

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; Muscular Dystrophy Tracking and Research Network (MD STAR.

J Neuromuscul Dis. 2018;5(4):497-507. doi: 10.3233/JND-180317.

11.

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 Aug 14;91(7):e620-e624. doi: 10.1212/WNL.0000000000006006. Epub 2018 Jul 13.

PMID:
30006410
12.

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 Jul;142(1). pii: e20174006. doi: 10.1542/peds.2017-4006. Epub 2018 Jun 20.

13.

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 Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.

14.

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; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net).

J Child Neurol. 2018 Jul;33(8):537-545. doi: 10.1177/0883073818773029. Epub 2018 May 15.

15.

An Update: Myasthenia Gravis and Pregnancy.

Hamel J, Ciafaloni E.

Neurol Clin. 2018 May;36(2):355-365. doi: 10.1016/j.ncl.2018.01.005. Review.

PMID:
29655454
16.

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 Aug;58(2):219-223. doi: 10.1002/mus.26129. Epub 2018 Mar 30.

PMID:
29543994
17.

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; MD STARnet.

Neuromuscul Disord. 2017 Oct;27(10):905-910. doi: 10.1016/j.nmd.2017.06.002. Epub 2017 Jul 21.

18.

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.

Respir Care. 2017 Aug;62(8):1121-1122. doi: 10.4187/respcare.05675. No abstract available.

19.

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 J Pediatr. 2017 Jun;13(3):197-201. doi: 10.1007/s12519-017-0036-3. Epub 2017 May 17. Review.

PMID:
28466241
20.

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.

Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24.

21.

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.

Disabil Rehabil. 2018 Jul;40(15):1773-1780. doi: 10.1080/09638288.2017.1312567. Epub 2017 Apr 11.

22.

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; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net).

J Child Neurol. 2017 Jun;32(7):663-670. doi: 10.1177/0883073817701368. Epub 2017 Apr 9.

23.

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 Qual Life Outcomes. 2017 Feb 10;15(1):33. doi: 10.1186/s12955-017-0612-1.

24.

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.

J Immunol. 2017 Feb 15;198(4):1460-1473. doi: 10.4049/jimmunol.1601415. Epub 2017 Jan 13.

25.

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.

J Neuromuscul Dis. 2015 Oct 7;2(4):447-452.

26.

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 3rd, Newsom-Davis J, Cutter GR; MGTX Study Group.

N Engl J Med. 2016 Aug 11;375(6):511-22. doi: 10.1056/NEJMoa1602489. Erratum in: N Engl J Med. 2017 May 25;376(21):2097. [Dosage error in article text].

27.

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; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

Respir Care. 2016 Oct;61(10):1349-59. doi: 10.4187/respcare.04676. Epub 2016 Aug 9.

28.

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; Muscular Dystrophy Surveillance, Research, and Tracking Network (MD STARnet).

J Pediatr. 2016 Jun;173:207-213.e3. doi: 10.1016/j.jpeds.2016.02.067. Epub 2016 Mar 30.

29.

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.

J Pediatr Rehabil Med. 2016;9(1):5-11. doi: 10.3233/PRM-160361.

30.

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; Muscle Study Group.

Neurology. 2016 Apr 12;86(15):1408-1416. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10.

31.

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, 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 Jr, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM Jr, Hehir MK, Hobson-Webb LD, Howard JF Jr, 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, Shieh 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 Feb;53(2):165-8. doi: 10.1002/mus.25009. Epub 2015 Dec 21. No abstract available.

PMID:
26662952
32.

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

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

Muscle Nerve. 2016 Feb;53(2):191-7. doi: 10.1002/mus.24727. Epub 2015 Dec 29.

PMID:
26044770
33.

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 Dec;52(6):1013-5. doi: 10.1002/mus.24684. Epub 2015 May 23.

PMID:
25900207
34.

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; MD STARnet.

Pediatrics. 2015 Mar;135(3):513-21. doi: 10.1542/peds.2014-2044. Epub 2015 Feb 16. Erratum in: Pediatrics. 2015 May;135(5):945.

35.

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

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

Ann Neurol. 2015 Feb;77(2):189-97. doi: 10.1002/ana.24316. Epub 2014 Dec 13. Review.

PMID:
25425541
36.

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.

J Pediatr Orthop. 2015 Sep;35(6):640-4. doi: 10.1097/BPO.0000000000000348.

PMID:
25379822
37.

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.

Am J Med Genet A. 2014 Nov;164A(11):2769-74. doi: 10.1002/ajmg.a.36728. Epub 2014 Aug 14.

PMID:
25125379
38.

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 Nov 12;81(20):1802. doi: 10.1212/01.wnl.0000435756.50142.45. No abstract available.

PMID:
24218315
39.

Myasthenia gravis: Five new things.

Statland JM, Ciafaloni E.

Neurol Clin Pract. 2013 Apr;3(2):126-133.

40.

Fat embolism syndrome in patients with Duchenne muscular dystrophy.

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

Neurology. 2013 Apr 2;80(14):1350-2. doi: 10.1212/WNL.0b013e31828ab313. Epub 2013 Mar 20. No abstract available.

PMID:
23516314
41.

Double trouble in a patient with myotonia.

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

BMJ Case Rep. 2013 Feb 14;2013. pii: bcr-2012-008167. doi: 10.1136/bcr-2012-008167.

42.

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 Feb 5;80(6):583-9. doi: 10.1212/WNL.0b013e318282334e. Review.

43.

Introduction for Myasthenia Gravis and Related Disorders.

Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL.

Ann N Y Acad Sci. 2012 Dec;1275:vii-viii. doi: 10.1111/nyas.12013. No abstract available. Erratum in: Ann N Y Acad Sci. 2013 Jan;1277:159.

PMID:
23278589
44.

Introduction for myasthenia gravis and related disorders.

Wolfe GI, Meriggioli MN, Ciafaloni E, Ruff RL.

Ann N Y Acad Sci. 2012 Dec;1274:vii-viii. doi: 10.1111/j.1749-6632.2012.06835.x. No abstract available. Erratum in: Ann N Y Acad Sci. 2013 Jan;1277:159.

PMID:
23252910
45.

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; MD STARnet.

Am J Med Genet A. 2013 Jan;161A(1):70-5. doi: 10.1002/ajmg.a.35682. Epub 2012 Dec 13.

46.

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; Consortium for Clinical Investigation of Neurologic Channelopathies.

JAMA. 2012 Oct 3;308(13):1357-65. doi: 10.1001/jama.2012.12607.

47.

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, Sherlock SM, Puzhankara S, Cunniff C, Druschel CM, Pandya S, Matthews DJ, Ciafaloni E; MD STARnet.

J Child Neurol. 2012 Jun;27(6):734-40. doi: 10.1177/0883073811426501. Epub 2011 Dec 7.

48.

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.

Genet Med. 2011 Nov;13(11):942-7. doi: 10.1097/GIM.0b013e31822623f1.

PMID:
21836521
49.

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.

J Child Neurol. 2010 Sep;25(9):1098-102. doi: 10.1177/0883073810371001.

50.

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

Moxley RT 3rd, Pandya S, Ciafaloni E, Fox DJ, Campbell K.

J Child Neurol. 2010 Sep;25(9):1116-29. doi: 10.1177/0883073810371004. Epub 2010 Jun 25. Review.

PMID:
20581335

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