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The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, Saraiva-Pereira ML, França MC Jr, Gordon CR, Zaltzman R, Cornejo-Olivas MR, van de Warrenburg BPC, Durr A, Brice A, Bauer P, Klockgether T, Schöls L, Riess O; EUROSCA Network; Schmidt T. Weber JJ, et al. Among authors: franca mc jr. Acta Neuropathol. 2024 Aug 1;148(1):14. doi: 10.1007/s00401-024-02762-6. Acta Neuropathol. 2024. PMID: 39088078 Free PMC article.
Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening.
Romanelli Tavares VL, Mendonça RH, Toledo MS, Hadachi SM, Grindler CM, Zanoteli E, Marques W Jr, Oliveira ASB, Breinis P, Morita MDPA, França MC Jr. Romanelli Tavares VL, et al. Among authors: franca mc jr. Genes (Basel). 2024 Jun 29;15(7):858. doi: 10.3390/genes15070858. Genes (Basel). 2024. PMID: 39062637 Free PMC article. Review.
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.
Gaviraghi T, Cavalcanti EBU, Lorenzoni PJ, Cotta A, de Souza PVS, de Oliveira AD, de Moraes MT, Marques MVO, Donis KC, Winckler PB, Costa E Silva C, Pinto WBVR, Kay CSK, Ducci RD, Rodrigues PRVP, Fustes OJH, da Silva AMS, Zanoteli E, França MC Jr, Sobreira CFR, Oliveira ASB, Carvalho EHT, Scola RH, Carvalho AAS, Saute JAM. Gaviraghi T, et al. Among authors: franca mc jr. Clin Genet. 2024 Nov;106(5):644-649. doi: 10.1111/cge.14589. Epub 2024 Jul 17. Clin Genet. 2024. PMID: 39015008
182 results