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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Among authors: sobreira cfr. Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14533. Online ahead of print. Clin Genet. 2024. PMID: 38685133 Review.
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
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.
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Monfrini E, Pesini A, Biella F, Sobreira CFR, Emmanuele V, Brescia G, Lopez LC, Tadesse S, Hirano M, Comi GP, Quinzii CM, Di Fonzo A. Monfrini E, et al. Among authors: sobreira cfr. Neurol Genet. 2023 Mar 14;9(2):e200058. doi: 10.1212/NXG.0000000000200058. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090936 Free PMC article.
Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.
Araujo APQC, Saute JAM, Fortes CPDD, França MC Jr, Pereira JA, Albuquerque MAV, Carvalho AAS, Cavalcanti EBU, Covaleski APPM, Fagondes SC, Gurgel-Giannetti J, Gonçalves MVM, Martinez ARM, Coimbra Neto AR, Neves FR, Nucci A, Nucera APCDS, Pessoa ALS, Rebel MF, Santos FND, Scola RH, Sobreira CFDR. Araujo APQC, et al. Among authors: sobreira cfdr. Arq Neuropsiquiatr. 2023 Jan;81(1):81-94. doi: 10.1055/s-0043-1761466. Epub 2023 Mar 14. Arq Neuropsiquiatr. 2023. PMID: 36918011 Free PMC article. Review.
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.
Education-based Aedes Aegypti control actions: an integrative review.
Dias ÍKR, Martins RMG, Sobreira CLDS, Rocha RMGS, Lopes MDSV. Dias ÍKR, et al. Among authors: sobreira clds. Cien Saude Colet. 2022 Jan;27(1):231-242. doi: 10.1590/1413-81232022271.33312020. Epub 2020 Nov 8. Cien Saude Colet. 2022. PMID: 35043902 Free article. Review. English, Portuguese.
47 results