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211 results

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Page 1
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Among authors: mozaffar t. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz-Manera J, Korb M, Wicklund MP, Milone M, Freimer M, Kushlaf H, Villar-Quiles RN, Stojkovic T, Needham M, Palmio J, Lloyd TE, Keung B, Mozaffar T, Weihl CC, Kimonis V. Roy B, et al. Among authors: mozaffar t. Ann Clin Transl Neurol. 2023 May;10(5):686-695. doi: 10.1002/acn3.51760. Epub 2023 Apr 7. Ann Clin Transl Neurol. 2023. PMID: 37026610 Free PMC article. Review.
GNE myopathy: History, etiology, and treatment trials.
Mullen J, Alrasheed K, Mozaffar T. Mullen J, et al. Among authors: mozaffar t. Front Neurol. 2022 Oct 18;13:1002310. doi: 10.3389/fneur.2022.1002310. eCollection 2022. Front Neurol. 2022. PMID: 36330422 Free PMC article. Review.
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. Pasnoor M, et al. Among authors: mozaffar t. Neurology. 2016 Jul 5;87(1):57-64. doi: 10.1212/WNL.0000000000002795. Epub 2016 Jun 15. Neurology. 2016. PMID: 27306628 Free PMC article. Clinical Trial.
Editorial: Inflammatory muscle diseases: an update.
Tanboon J, Needham M, Mozaffar T, Stenzel W, Nishino I. Tanboon J, et al. Among authors: mozaffar t. Front Neurol. 2023 Aug 8;14:1259275. doi: 10.3389/fneur.2023.1259275. eCollection 2023. Front Neurol. 2023. PMID: 37614973 Free PMC article. No abstract available.
Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis.
Coulis G, Jaime D, Guerrero-Juarez C, Kastenschmidt JM, Farahat PK, Nguyen Q, Pervolarakis N, McLinden K, Thurlow L, Movahedi S, Duarte J, Sorn A, Montoya E, Mozaffar I, Dragan M, Othy S, Joshi T, Hans CP, Kimonis V, MacLean AL, Nie Q, Wallace LM, Harper SQ, Mozaffar T, Hogarth MW, Bhattacharya S, Jaiswal JK, Golann DR, Su Q, Kessenbrock K, Stec M, Spencer MJ, Zamudio JR, Villalta SA. Coulis G, et al. Among authors: mozaffar i, mozaffar t. bioRxiv [Preprint]. 2023 Apr 18:2023.04.18.537253. doi: 10.1101/2023.04.18.537253. bioRxiv. 2023. PMID: 37131694 Free PMC article. Updated. Preprint.
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Doody A, Alfano L, Diaz-Manera J, Lowes L, Mozaffar T, Mathews KD, Weihl CC, Wicklund M, Hung M, Statland J, Johnson NE; GRASP-LGMD Consortium. Doody A, et al. Among authors: mozaffar t. BMC Neurol. 2024 Mar 15;24(1):96. doi: 10.1186/s12883-024-03588-1. BMC Neurol. 2024. PMID: 38491364 Free PMC article.
The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology.
Benatar M, Wuu J, Huey ED, McMillan CT, Petersen RC, Postuma R, McHutchison C, Dratch L, Arias JJ, Crawley A, Houlden H, McDermott MP, Cai X, Thakur N, Boxer A, Rosen H, Boeve BF, Dacks P, Cosentino S, Abrahams S, Shneider N, Lingor P, Shefner J, Andersen PM, Al-Chalabi A, Turner MR; Attendees of the Second International Pre-Symptomatic ALS Workshop. Benatar M, et al. Nat Rev Neurol. 2024 May 20. doi: 10.1038/s41582-024-00961-z. Online ahead of print. Nat Rev Neurol. 2024. PMID: 38769202 Review.
211 results