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24 results

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Page 1
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: sobreira cfdr. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr, Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E. Estephan EP, et al. Among authors: sobreira cfdr. J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30. J Neurol. 2018. PMID: 29383513 Free PMC article.
Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis.
Borghetti VS, Cintra VP, Ramos JO, Marques VD, Onofre PT, Santana VAS, Bezerra LFP, Tomaselli PJ, Santos ACJD, Sobreira CFDR, Marques W Jr. Borghetti VS, et al. Among authors: sobreira cfdr. Arq Neuropsiquiatr. 2022 Jul;80(7):676-680. doi: 10.1055/s-0042-1755224. Epub 2022 Sep 29. Arq Neuropsiquiatr. 2022. PMID: 36254439 Free PMC article.
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo FB, Tomaselli PJ, Hallak J, Mattiello-Sverzut AC, Covaleski APPM, Sobreira CFDR, de Paula Gouvêa S, Marques W Jr. Figueiredo FB, et al. Among authors: sobreira cfdr. J Peripher Nerv Syst. 2024 Mar;29(1):97-106. doi: 10.1111/jns.12617. Epub 2024 Feb 20. J Peripher Nerv Syst. 2024. PMID: 38375759
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS, Tomaselli PJ, Record CJ, Wilson LA, Alves GM, Dominik N, Efthymiou S, Patel K, Vandrovcova J, Männikkö R, Pitceathly RDS, Sobreira CFDR, McFarland R, Taylor RW, Houlden H, Hanna MG, Reilly MM, Marques W. Frezatti RSS, et al. Among authors: sobreira cfdr. Brain Commun. 2024 Nov 14;6(6):fcae342. doi: 10.1093/braincomms/fcae342. eCollection 2024. Brain Commun. 2024. PMID: 39544699 Free PMC article.
24 results