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Items: 1 to 20 of 91

1.

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype.

Parker J, Mozaffar T, Messmore A, Deignan JL, Kimonis VE, Ringman JM.

Neurosci Lett. 2019 Feb 1;699:195-198. doi: 10.1016/j.neulet.2019.01.047. [Epub ahead of print]

PMID:
30716424
2.

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
3.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Palmio J, Leonard-Louis S, Sacconi S, Savarese M, Penttilä S, Semmler AL, Kress W, Mozaffar T, Lai T, Stojkovic T, Berardo A, Reisin R, Attarian S, Urtizberea A, Cobo AM, Maggi L, Kurbatov S, Nikitin S, Milisenda JC, Fatehi F, Raimondi M, Silveira F, Hackman P, Claeys KG, Udd B.

J Neurol. 2019 Mar;266(3):680-690. doi: 10.1007/s00415-019-09187-2. Epub 2019 Jan 21.

4.

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M.

Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec.

5.

Review process for IVIg treatment: Lessons learned from INSIGHTS neuropathy study.

Levine TD, Katz JS, Barohn R, Vaughan LJ, Dimachkie MM, Saperstein DS, Mozaffar T, Wolfe GI, Mayo MS, Badger GJ, Katzin L, Ritt E, Greer M, DiStefano J, Schmidt PM.

Neurol Clin Pract. 2018 Oct;8(5):429-436. doi: 10.1212/CPJ.0000000000000520. Review.

6.

Longitudinal Screening Detects Cognitive Stability and Behavioral Deterioration in ALS Patients.

Woolley S, Goetz R, Factor-Litvak P, Murphy J, Hupf J, Lomen-Hoerth C, Andrews H, Heitzman D, Bedlack R, Katz J, Barohn R, Sorenson E, Oskarsson B, Filho AF, Kasarskis E, Mozaffar T, Nations S, Swenson A, Koczon-Jaremko A, Christodoulou G, Mitsumoto H.

Behav Neurol. 2018 Oct 31;2018:5969137. doi: 10.1155/2018/5969137. eCollection 2018.

7.

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, El Mouelhi M, 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 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15.

PMID:
30337273
8.

Rasagiline for amyotrophic lateral sclerosis: A randomized, controlled trial.

Statland JM, Moore D, Wang Y, Walsh M, Mozaffar T, Elman L, Nations SP, Mitsumoto H, Fernandes JA, Saperstein D, Hayat G, Herbelin L, Karam C, Katz J, Wilkins HM, Agbas A, Swerdlow RH, Santella RM, Dimachkie MM, Barohn RJ; Rasagiline Investigators of the Muscle Study Group and Western ALS Consortium.

Muscle Nerve. 2019 Feb;59(2):201-207. doi: 10.1002/mus.26335. Epub 2018 Nov 26.

PMID:
30192007
9.

A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Plewa J, Surampalli A, Wencel M, Milad M, Donkervoort S, Caiozzo VJ, Goyal N, Mozaffar T, Kimonis V.

Neuromuscul Disord. 2018 Sep;28(9):778-786. doi: 10.1016/j.nmd.2018.06.007. Epub 2018 Jun 27.

PMID:
30097247
10.

Novel Therapeutic Options in Treatment of Idiopathic Inflammatory Myopathies.

Goyal NA, Mozaffar T.

Curr Treat Options Neurol. 2018 Jul 23;20(9):37. doi: 10.1007/s11940-018-0521-6. Review.

PMID:
30033499
11.

Mexiletine for muscle cramps in amyotrophic lateral sclerosis: A randomized, double-blind crossover trial.

Oskarsson B, Moore D, Mozaffar T, Ravits J, Wiedau-Pazos M, Parziale N, Joyce NC, Mandeville R, Goyal N, Cudkowicz ME, Weiss M, Miller RG, McDonald CM.

Muscle Nerve. 2018 Mar 6. doi: 10.1002/mus.26117. [Epub ahead of print]

PMID:
29510461
12.

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang AK, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V.

Clin Genet. 2018 Jan;93(1):119-125. doi: 10.1111/cge.13095.

13.

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.

Kishnani P, Tarnopolsky M, Roberts M, Sivakumar K, Dasouki M, Dimachkie MM, Finanger E, Goker-Alpan O, Guter KA, Mozaffar T, Pervaiz MA, Laforet P, Levine T, Adera M, Lazauskas R, Sitaraman S, Khanna R, Benjamin E, Feng J, Flanagan JJ, Barth J, Barlow C, Lockhart DJ, Valenzano KJ, Boudes P, Johnson FK, Byrne B.

Mol Ther. 2017 May 3;25(5):1199-1208. doi: 10.1016/j.ymthe.2017.02.017. Epub 2017 Mar 22.

14.

Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA.

Price MA, Barghout V, Benveniste O, Christopher-Stine L, Corbett A, de Visser M, Hilton-Jones D, Kissel JT, Lloyd TE, Lundberg IE, Mastaglia F, Mozaffar T, Needham M, Schmidt J, Sivakumar K, DeMuro C, Tseng BS.

J Neuromuscul Dis. 2016 Mar 3;3(1):67-75.

15.

Sporadic inclusion body myositis misdiagnosed as idiopathic granulomatous myositis.

Lavian M, Goyal N, Mozaffar T.

Neuromuscul Disord. 2016 Nov;26(11):741-743. doi: 10.1016/j.nmd.2016.09.003. Epub 2016 Sep 13.

PMID:
27692540
16.

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].

17.

Critically re-evaluating a common technique: Accuracy, reliability, and confirmation bias of EMG.

Charles JA, Souayah N, Narayanaswami P, Jones L, Weiss M, Mozaffar T, Rutkove SB.

Neurology. 2016 Aug 9;87(6):645. doi: 10.1212/WNL.0000000000003023. No abstract available.

PMID:
27502964
18.

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.

Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19.

19.

A randomized controlled trial of methotrexate for patients with generalized myasthenia gravis.

Pasnoor M, He J, Herbelin L, Burns TM, Nations S, Bril V, Wang AK, Elsheikh BH, Kissel JT, Saperstein D, Shaibani JA, Jackson C, Swenson A, Howard JF Jr, Goyal N, David W, Wicklund M, Pulley M, Becker M, Mozaffar T, Benatar M, Pazcuzzi R, Simpson E, Rosenfeld J, Dimachkie MM, Statland JM, Barohn RJ; Methotrexate in MG Investigators of the Muscle Study Group.

Neurology. 2016 Jul 5;87(1):57-64. doi: 10.1212/WNL.0000000000002795. Epub 2016 Jun 15.

20.

Defining SOD1 ALS natural history to guide therapeutic clinical trial design.

Bali T, Self W, Liu J, Siddique T, Wang LH, Bird TD, Ratti E, Atassi N, Boylan KB, Glass JD, Maragakis NJ, Caress JB, McCluskey LF, Appel SH, Wymer JP, Gibson S, Zinman L, Mozaffar T, Callaghan B, McVey AL, Jockel-Balsarotti J, Allred P, Fisher ER, Lopate G, Pestronk A, Cudkowicz ME, Miller TM.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):99-105. doi: 10.1136/jnnp-2016-313521. Epub 2016 Jun 3.

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