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Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB. Turner J, et al. Among authors: syeda sb. Muscle Nerve. 2024 Oct;70(4):843-850. doi: 10.1002/mus.28214. Epub 2024 Jul 28. Muscle Nerve. 2024. PMID: 39072769
Association Between Type 1 Diabetes Mellitus and Eating Disorders: A Systematic Review and Meta-Analysis.
Dean YE, Motawea KR, Aslam M, Pintado JJL, Popoola-Samuel HAO, Salam M, Dundi POR, Donaldy W, Aledani EM, Alqiqie Z, Sultana N, Mohamed ARH, Elalem A, Syeda STH, Mohamed MS, Assal MW, Attia NM, Hagar H, Abdelaziz HA, Subedi A, Elbahaie A, Hazimeh Y, Aiash H. Dean YE, et al. Among authors: syeda sth. Endocrinol Diabetes Metab. 2024 May;7(3):e473. doi: 10.1002/edm2.473. Endocrinol Diabetes Metab. 2024. PMID: 38597269 Free PMC article. Review.
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Silverstein S, Orbach R, Syeda S, Foley AR, Gorokhova S, Meilleur KG, Leach ME, Uapinyoying P, Chao KR, Donkervoort S, Bönnemann CG. Silverstein S, et al. Among authors: syeda s. medRxiv [Preprint]. 2024 Mar 26:2024.03.25.24304535. doi: 10.1101/2024.03.25.24304535. medRxiv. 2024. Update in: HGG Adv. 2024 Sep 23;6(1):100354. doi: 10.1016/j.xhgg.2024.100354. PMID: 38585796 Free PMC article. Updated. Preprint.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Bharucha-Goebel DX, Todd JJ, Saade D, Norato G, Jain M, Lehky T, Bailey RM, Chichester JA, Calcedo R, Armao D, Foley AR, Mohassel P, Tesfaye E, Carlin BP, Seremula B, Waite M, Zein WM, Huryn LA, Crawford TO, Sumner CJ, Hoke A, Heiss JD, Charnas L, Hooper JE, Bouldin TW, Kang EM, Rybin D, Gray SJ, Bönnemann CG; GAN Trial Team. Bharucha-Goebel DX, et al. N Engl J Med. 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. N Engl J Med. 2024. PMID: 38507752
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.
89 results