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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: nobrega pr. 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: nobrega pr. 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.
Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.
Ribeiro RM, Vasconcelos SC, Lima PLGSB, Coelho EF, Oliveira AMN, Gomes EABM, Mota LA, Radtke LS, Carvalho MDS, Araújo DABS, Pinheiro MSN, Gama VCV, Júnior RMM, Braga Neto P, Nóbrega PR. Ribeiro RM, et al. Among authors: nobrega pr. Brain Sci. 2023 Jun 22;13(7):979. doi: 10.3390/brainsci13070979. Brain Sci. 2023. PMID: 37508912 Free PMC article. Review.
56 results