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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17.
Acta Neuropathol. 2023.
PMID: 36799992
Free PMC article.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW.
Oláhová M, et al. Among authors: syeda sb.
Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0.
Nat Commun. 2021.
PMID: 33602924
Free PMC article.
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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Averdunk L, Donkervoort S, Horn D, Waldmüller S, Syeda S, Neuhaus SB, Chao KR, van Riesen A, Gauck D, Haack T, Japp AS, Lee U, Bönnemann CG, Mayatepek E, Distelmaier F.
Averdunk L, et al. Among authors: syeda s.
Neuropediatrics. 2022 Oct;53(5):309-320. doi: 10.1055/a-1859-0800. Epub 2022 May 23.
Neuropediatrics. 2022.
PMID: 35605965
Free article.
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A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez C, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA, Bönnemann CG.
Mohassel P, et al.
Ann Clin Transl Neurol. 2023 Aug;10(8):1442-1455. doi: 10.1002/acn3.51834. Epub 2023 Jul 22.
Ann Clin Transl Neurol. 2023.
PMID: 37483011
Free PMC article.
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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG.
Syeda SB, et al.
J Neurol Neurosurg Psychiatry. 2024 Jan 11;95(2):103-113. doi: 10.1136/jnnp-2023-332132.
J Neurol Neurosurg Psychiatry. 2024.
PMID: 38041679
Free PMC article.
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