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Items: 1 to 20 of 154


Open-Label Trial of Ranolazine for the Treatment of Paramyotonia Congenita.

LoRusso S, Kline D, Bartlett A, Freimer M, Agriesti J, Hawash AA, Rich MM, Kissel JT, Arnold WD.

Muscle Nerve. 2018 Nov 3. doi: 10.1002/mus.26372. [Epub ahead of print]


Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Grunseich C, Miller R, Swan T, Glass DJ, Mouelhi ME, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group.

Lancet Neurol. 2018 Oct 15. pii: S1474-4422(18)30320-X. doi: 10.1016/S1474-4422(18)30320-X. [Epub ahead of print]


Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study.

Krosschell KJ, Bosch M, Nelson L, Duong T, Lowes LP, Alfano LN, Benjamin D, Carry TB, Devine G, Kelley C, Gadekan R, Malkus EC, Pasternak A, Provance-Orr S, Roemeiser-Logan L, Nicorici A, Trussell D, Young SD, Fetterman JR, Montes J, Powers PJ, Quinones R, Quigley J, Coffey CS, Yankey JW, Bartlett A, Kissel JT, Kolb SJ; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

J Neuromuscul Dis. 2018;5(4):509-521. doi: 10.3233/JND-180327.


Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA).

Mongiovi P, Dilek N, Garland C, Hunter M, Kissel JT, Luebbe E, McDermott MP, Johnson N, Heatwole C.

Neurology. 2018 Sep 25;91(13):e1206-e1214. doi: 10.1212/WNL.0000000000006241. Epub 2018 Aug 24.


Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep.


Foot measures in patients with pes cavus with and without Charcot-Marie-Tooth disease: a pilot study.

Stino AM, Atway S, Anthony M, Kline D, Kissel JT.

Muscle Nerve. 2018 Jul 24. doi: 10.1002/mus.26309. [Epub ahead of print]


An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members.

Belter L, Cook SF, Crawford TO, Jarecki J, Jones CC, Kissel JT, Schroth M, Hobby K.

J Neuromuscul Dis. 2018;5(2):167-176. doi: 10.3233/JND-170292.


Facioscapulohumeral muscular dystrophy functional composite outcome measure.

Eichinger K, Heatwole C, Iyadurai S, King W, Baker L, Heininger S, Bartlett A, Dilek N, Martens WB, Mcdermott M, Kissel JT, Tawil R, Statland JM.

Muscle Nerve. 2018 Jan 30. doi: 10.1002/mus.26088. [Epub ahead of print]


Natural history of infantile-onset spinal muscular atrophy.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators.

Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8.


Review of the Diagnosis and Treatment of Periodic Paralysis.

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC.

Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Review.


Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy.

Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, Prior TW, Lowes L, Alfano L, Berry K, Church K, Kissel JT, Nagendran S, L'Italien J, Sproule DM, Wells C, Cardenas JA, Heitzer MD, Kaspar A, Corcoran S, Braun L, Likhite S, Miranda C, Meyer K, Foust KD, Burghes AHM, Kaspar BK.

N Engl J Med. 2017 Nov 2;377(18):1713-1722. doi: 10.1056/NEJMoa1706198.


Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

Howard JF Jr, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ, O'Brien F, Wang JJ, Mantegazza R; REGAIN Study Group.

Lancet Neurol. 2017 Dec;16(12):976-986. doi: 10.1016/S1474-4422(17)30369-1. Epub 2017 Oct 20. Erratum in: Lancet Neurol. 2017 Dec;16(12 ):954.


Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network.

Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18.


Open-label trial of ranolazine for the treatment of myotonia congenita.

Arnold WD, Kline D, Sanderson A, Hawash AA, Bartlett A, Novak KR, Rich MM, Kissel JT.

Neurology. 2017 Aug 15;89(7):710-713. doi: 10.1212/WNL.0000000000004229. Epub 2017 Jul 14.


Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

Delva A, Thakore N, Pioro EP, Poesen K, Saunders-Pullman R, Meijer IA, Rucker JC, Kissel JT, Van Damme P.

Muscle Nerve. 2017 Dec;56(6):1164-1168. doi: 10.1002/mus.25669. Epub 2017 May 15.


Maximum inspiratory pressure as a clinically meaningful trial endpoint for neuromuscular diseases: a comprehensive review of the literature.

Schoser B, Fong E, Geberhiwot T, Hughes D, Kissel JT, Madathil SC, Orlikowski D, Polkey MI, Roberts M, Tiddens HA, Young P.

Orphanet J Rare Dis. 2017 Mar 16;12(1):52. doi: 10.1186/s13023-017-0598-0. Review.


Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial.

Raman SV, Hor KN, Mazur W, He X, Kissel JT, Smart S, McCarthy B, Roble SL, Cripe LH.

Orphanet J Rare Dis. 2017 Feb 20;12(1):39. doi: 10.1186/s13023-017-0590-8.


Pregnancy and delivery in women with spinal muscular atrophy.

Elsheikh BH, Zhang X, Swoboda KJ, Chelnick S, Reyna SP, Kolb SJ, Kissel JT.

Int J Neurosci. 2017 Nov;127(11):953-957. doi: 10.1080/00207454.2017.1281273. Epub 2017 Feb 5.


QMG and MG-ADL correlations: Study of eculizumab treatment of myasthenia gravis.

Howard JF Jr, Freimer M, O'Brien F, Wang JJ, Collins SR, Kissel JT; MG (Phase2) Study Group.

Muscle Nerve. 2017 Aug;56(2):328-330. doi: 10.1002/mus.25529. Epub 2017 Feb 25.


The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies.

Iyadurai SJ, Kissel JT.

Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1954-1977. Review.


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