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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: pessoa als. 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.
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: pessoa als. 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.
Sleep disorders in cerebrotendinous xanthomatosis: A case series.
Barbosa LRS, Camelo-Filho AE, Lima PLGSB, Moura AEF, Pessoa ALS, Braga-Neto P, Sobreira-Neto MA, Nóbrega PR. Barbosa LRS, et al. Among authors: pessoa als. Sleep Med. 2024 Dec;124:613-617. doi: 10.1016/j.sleep.2024.10.034. Epub 2024 Oct 29. Sleep Med. 2024. PMID: 39488927
Newborns with microcephaly in Brazil and potential vertical transmission of Oropouche virus: a case series.
das Neves Martins FE, Chiang JO, Nunes BTD, Ribeiro BFR, Martins LC, Casseb LMN, Henriques DF, de Oliveira CS, Maciel ELN, Azevedo RDS, Cravo LCC, Barreto ARF, Pessoa ALS, Filho AJM, de Sousa JR, Schuler-Faccini L, Quaresma JAS, da Costa Vasconcelos PF, da Silva Azevedo RDS. das Neves Martins FE, et al. Among authors: pessoa als. Lancet Infect Dis. 2024 Oct 15:S1473-3099(24)00617-0. doi: 10.1016/S1473-3099(24)00617-0. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39423837
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR, Paiva ARB, Amorim Junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Freua F, Santos ES, Rocha MMV, Maia RE, Araújo RS, Ramos JDG, Resende RG, Carvalho GDS, Valença LPA, Lima de Carvalho JR Jr, Melo ES, Pedroso JL, Barsottini OGP, Houlden H, Kok F, Lynch DS. Nóbrega PR, et al. Among authors: pessoa als. Genet Med. 2025 Jan;27(1):101291. doi: 10.1016/j.gim.2024.101291. Epub 2024 Oct 9. Genet Med. 2025. PMID: 39394881 Free article.
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH, Sperb-Ludwig F, Ligabue-Braun R, Bitencourt FH, Tonon T, Souza CFM, Poswar FO, Leite MEQ, Amorim T, Porta G, Seda Neto J, Miura IK, Steiner CE, Martins AM, Pessoa ALS, Ribeiro EM, Schwartz IVD. Tresbach RH, et al. Among authors: pessoa als. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108569. doi: 10.1016/j.ymgme.2024.108569. Epub 2024 Aug 29. Mol Genet Metab. 2024. PMID: 39270351
35 results