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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.
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.
Higher Prevalence of Nonsense Pathogenic DMD Variants in a Single-Center Cohort from Brazil: A Genetic Profile Study That May Guide the Choice of Disease-Modifying Treatments.
Braga VLL, Lima DP, Mariano TC, Lima PLGSB, Maia ABA, da Silva Meireles WW, de Oliveira Pessoa KT, de Oliveira CM, Ribeiro EM, Nóbrega PR, Pessoa ALS. Braga VLL, et al. Among authors: pessoa als. Brain Sci. 2023 Oct 28;13(11):1521. doi: 10.3390/brainsci13111521. Brain Sci. 2023. PMID: 38002481 Free PMC article.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Paiva ARB, Pessoa ALS, Nóbrega PR, Moreno CAM, Lynch DS, Taniguti LM, Kitajima JP, Freua F, Della-Ripa B, Cunha P, Peixoto de Barcelos I, Macedo-Souza LI, Takeuchi CA, Garcia AMS, Nardes F, Fontão R, Antoniuk SA, Troncoso M, Spécola N, Durand C, Madeiro BACS, Doriqui MJR, Vergara D, Houlden H, Kok F. Paiva ARB, et al. Among authors: pessoa als. J Neurol Neurosurg Psychiatry. 2023 May;94(5):405-408. doi: 10.1136/jnnp-2022-330135. Epub 2023 Feb 3. J Neurol Neurosurg Psychiatry. 2023. PMID: 36737246 No abstract available.
Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Nóbrega PR, Bernardes AM, Ribeiro RM, Vasconcelos SC, Araújo DABS, Gama VCV, Fussiger H, Santos CF, Dias DA, Pessoa ALS, Pinto WBVR, Saute JAM, de Souza PVS, Braga-Neto P. Nóbrega PR, et al. Among authors: pessoa als. Front Neurol. 2022 Dec 23;13:1049850. doi: 10.3389/fneur.2022.1049850. eCollection 2022. Front Neurol. 2022. PMID: 36619921 Free PMC article. Review.
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