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132 results

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Page 1
Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W Jr, Oliveira ASB, Breinis P, Morita MDPA, França MC Jr. Romanelli Tavares VL, et al. Among authors: marques w jr. Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858. Genes (Basel). 2024. PMID: 39062637 Free PMC article. Review.
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
Beijer D, Marte S, Li JC, De Ridder W, Chen JZ, Tadenev ALD, Miers KE, Deconinck T, Macdonell R, Marques W Jr, De Jonghe P, Pratt SL, Meyer-Schuman R, Züchner S, Antonellis A, Burgess RW, Baets J. Beijer D, et al. Among authors: marques w jr. Brain Commun. 2024 Mar 8;6(2):fcae070. doi: 10.1093/braincomms/fcae070. eCollection 2024. Brain Commun. 2024. PMID: 38495304
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: marques w jr. 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
Gene-based therapies for neuromuscular disorders.
Zanoteli E, França MC Jr, Marques W Jr. Zanoteli E, et al. Among authors: marques w jr. Arq Neuropsiquiatr. 2024 Jun;82(6):1-10. doi: 10.1055/s-0043-1777755. Epub 2024 Feb 7. Arq Neuropsiquiatr. 2024. PMID: 38325390 Free PMC article.
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Zanoteli E, Araujo APQC, Becker MM, Fortes CPDD, França MC Jr, Machado-Costa MC, Marques W Jr, Matsui C Jr, Mendonça RH, Nardes F, Oliveira ASB, Pessoa ALS, Saute JAM, Sgobbi P, Van der Linden H Jr, Gurgel-Giannetti J. Zanoteli E, et al. Among authors: marques w jr. Arq Neuropsiquiatr. 2024 Jan;82(1):1-18. doi: 10.1055/s-0044-1779503. Epub 2024 Feb 5. Arq Neuropsiquiatr. 2024. PMID: 38316428 Free PMC article.
Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.
Lobo CC, Wertheimer GSO, Schmitt GS, Matos PCAAP, Rezende TJR, Silva JM, Borba FC, Lima FD, Martinez ARM, Barsottini OGP, Pedroso JL, Marques W Jr, França MC Jr. Lobo CC, et al. Among authors: marques w jr. Mov Disord Clin Pract. 2024 Jan;11(1):45-52. doi: 10.1002/mdc3.13930. Epub 2023 Nov 29. Mov Disord Clin Pract. 2024. PMID: 38291837 Free PMC article.
Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy.
Coelho T, Marques W Jr, Dasgupta NR, Chao CC, Parman Y, França MC Jr, Guo YC, Wixner J, Ro LS, Calandra CR, Kowacs PA, Berk JL, Obici L, Barroso FA, Weiler M, Conceição I, Jung SW, Buchele G, Brambatti M, Chen J, Hughes SG, Schneider E, Viney NJ, Masri A, Gertz MR, Ando Y, Gillmore JD, Khella S, Dyck PJB, Waddington Cruz M; NEURO-TTRansform Investigators. Coelho T, et al. Among authors: marques w jr. JAMA. 2023 Oct 17;330(15):1448-1458. doi: 10.1001/jama.2023.18688. JAMA. 2023. PMID: 37768671 Free PMC article.
132 results