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Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: wilmshurst jm. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
RYR1 mutations are a common cause of congenital myopathies with central nuclei.
Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. Wilmshurst JM, et al. Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119. Ann Neurol. 2010. PMID: 20839240 Free article.
Pediatric Cerebral Palsy in Africa: Where Are We?
Donald KA, Kakooza AM, Wammanda RD, Mallewa M, Samia P, Babakir H, Bearden D, Majnemer A, Fehlings D, Shevell M, Chugani H, Wilmshurst JM. Donald KA, et al. Among authors: wilmshurst jm. J Child Neurol. 2015 Jul;30(8):963-71. doi: 10.1177/0883073814549245. Epub 2014 Oct 7. J Child Neurol. 2015. PMID: 25296926
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
Chaya S, Zampoli M, Gray D, Booth J, Riordan G, Ndondo A, Fieggen K, Rusch J, van der Watt G, Pillay K, van der Westhuizen F, Menezes M, Wilmshurst J. Chaya S, et al. Semin Pediatr Neurol. 2018 Jul;26:10-14. doi: 10.1016/j.spen.2017.03.002. Epub 2017 Apr 4. Semin Pediatr Neurol. 2018. PMID: 29961494
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C, Franchini M, Van den Bersselaar LR, Kruijt N, Voermans NC, Bouman K, Kamsteeg EJ, Knop KC, Ruggiero L, Santoro L, Nevo Y, Wilmshurst J, Vissing J, Sinnreich M, Zorzato D, Muntoni F, Jungbluth H, Zorzato F, Treves S. Bachmann C, et al. Brain Commun. 2022 Sep 2;4(5):fcac224. doi: 10.1093/braincomms/fcac224. eCollection 2022. Brain Commun. 2022. PMID: 36196089 Free PMC article.
227 results