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Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.
J Peripher Nerv Syst. 2023 Dec;28(4):614-619. doi: 10.1111/jns.12601. Epub 2023 Nov 6.
J Peripher Nerv Syst. 2023.
PMID: 37849068
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: frezatti rss.
Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254.
Brain. 2023.
PMID: 37516995
Free PMC article.
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Conduction block and temporal dispersion in a SIGMAR1-related neuropathy.
Frezatti RSS, Tomaselli PJ, Figueiredo FB, Zuchner S, Reilly MM, Marques W Jr.
Frezatti RSS, et al.
J Peripher Nerv Syst. 2022 Dec;27(4):316-319. doi: 10.1111/jns.12517. Epub 2022 Nov 1.
J Peripher Nerv Syst. 2022.
PMID: 36222432
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