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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.
Baltar F, Simoes C, Garagorry F, Graña M, Rodríguez S, Haydée Aunchayna M, Tapié A, Cerisola A, González G, Naya H, Spangenberg L, Raggio V. Baltar F, et al. Among authors: grana m. Front Pediatr. 2024 May 1;12:1379254. doi: 10.3389/fped.2024.1379254. eCollection 2024. Front Pediatr. 2024. PMID: 38751748 Free PMC article.
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.
Raggio V, Graña M, Winiarski E, Mansilla S, Simoes C, Rodríguez S, Brandes M, Tapié A, Rodríguez L, Cibils L, Alonso M, Martínez J, Fernández-Calero T, Domínguez F, Mezquida MR, Castro L, Cerisola A, Naya H, Cassina A, Quijano C, Spangenberg L. Raggio V, et al. Among authors: grana m. Hum Genomics. 2023 Feb 27;17(1):14. doi: 10.1186/s40246-023-00463-x. Hum Genomics. 2023. PMID: 36849973 Free PMC article.
Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
Raggio V, Dell'Oca N, Simoes C, Tapié A, Medici C, Costa G, Rodriguez S, Greif G, Garrone E, Rovella ML, Gonzalez V, Halty M, González G, Shin JY, Shin SY, Kim C, Seo JS, Graña M, Naya H, Spangenberg L. Raggio V, et al. Among authors: grana m. Hum Genomics. 2021 May 10;15(1):28. doi: 10.1186/s40246-021-00328-1. Hum Genomics. 2021. PMID: 33971976 Free PMC article.
3697G>A in MT-ND1 is a causative mutation in mitochondrial disease.
Spangenberg L, Graña M, Greif G, Suarez-Rivero JM, Krysztal K, Tapié A, Boidi M, Fraga V, Lemes A, Gueçaimburú R, Cerisola A, Sánchez-Alcázar JA, Robello C, Raggio V, Naya H. Spangenberg L, et al. Among authors: grana m. Mitochondrion. 2016 May;28:54-9. doi: 10.1016/j.mito.2016.03.006. Epub 2016 Mar 24. Mitochondrion. 2016. PMID: 27017994
Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease.
Alonso M, Zabala C, Mansilla S, De Brun L, Martínez J, Garau M, Rivas G, Acosta C, Lens D, Cerisola A, Graña M, Naya H, Puentes R, Spangenberg L, Raggio V, Lemes A, Castro L, Quijano C. Alonso M, et al. Among authors: grana m. Mitochondrion. 2021 Nov;61:31-43. doi: 10.1016/j.mito.2021.09.004. Epub 2021 Sep 16. Mitochondrion. 2021. PMID: 34536563
186 results