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The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Nogueira C, Pereira C, Silva L, Laranjeira M, Lopes A, Neiva R, Rodrigues E, Campos T, Martins E, Bandeira A, Coelho M, Magalhães M, Damásio J, Gaspar A, Janeiro P, Gomes AL, Ferreira AC, Jacinto S, Vieira JP, Diogo L, Santos H, Mendonça C, Vilarinho L. Nogueira C, et al. Among authors: vieira jp. Front Cell Dev Biol. 2024 Feb 23;12:1331351. doi: 10.3389/fcell.2024.1331351. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38465286 Free PMC article.
Metabolic Myopathies: Experience of a Reference Center of Inherited Metabolic Diseases.
Rebelo M, Pires M, Azurara L, Câmara L, Pereira M, Ribeirinho A, Padeira G, Silva PG, Jacinto S, Vieira JP, Ferreira AC. Rebelo M, et al. Among authors: vieira jp. Endocr Metab Immune Disord Drug Targets. 2023 Oct 18. doi: 10.2174/0118715303279208231012051937. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859320
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Martins M, Oliveira AR, Martins S, Vieira JP, Perdigão P, Fernandes AR, de Almeida LP, Palma PJ, Sequeira DB, Santos JMM, Duque F, Oliveira G, Cardoso AL, Peça J, Seabra CM. Martins M, et al. Among authors: vieira jp. Int J Mol Sci. 2023 Aug 9;24(16):12603. doi: 10.3390/ijms241612603. Int J Mol Sci. 2023. PMID: 37628781 Free PMC article.
98 results