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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.
Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.
Alfano LN, James MK, Grosfjeld Petersen K, Rudolf K, Vissing J, Augsburger R, Mozaffar T, Jones A, Butler A, Laubscher KM, Mockler SRH, Mathews KD, Iammarino MA, Reash NF, Pietruszewski L, Lowes LP, Strahler T, Wicklund M, Hunn S, Weihl CC, Sasidharan S, Currence M, Statland JM, Stinson N, Holzer M, Leung DG, Lott DJ, Kang PB, Holsten S, Desai U, Johnson NE; GRASP‐LGMD Consortium. Alfano LN, et al. Among authors: mozaffar t. Ann Clin Transl Neurol. 2024 Dec 15. doi: 10.1002/acn3.52276. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 39675022 Free article.
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. Update in: Sci Adv. 2023 Jul 7;9(27):eadd9984. doi: 10.1126/sciadv.add9984 PMID: 37131694 Free PMC article. Updated. Preprint.
Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.
Byrne BJ, Parenti G, Schoser B, van der Ploeg AT, Do H, Fox B, Goldman M, Johnson FK, Kang J, Mehta N, Mondick J, Sheikh MO, Sitaraman Das S, Tuske S, Brudvig J, Weimer JM, Mozaffar T. Byrne BJ, et al. Among authors: mozaffar t. Front Neurol. 2024 Oct 18;15:1451512. doi: 10.3389/fneur.2024.1451512. eCollection 2024. Front Neurol. 2024. PMID: 39494167 Free PMC article.
224 results