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Page 1
Species limits and hybridization in Andean leaf-eared mice (Phyllotis).
Quiroga-Carmona M, Liphardt S, Bautista NM, Jayat P, Teta P, Malaney JL, McFarland T, Cook JA, Blumer LM, Herrera ND, Cheviron ZA, Good JM, D'Elía G, Storz JF. Quiroga-Carmona M, et al. Among authors: good jm. bioRxiv [Preprint]. 2024 Sep 18:2024.08.31.610610. doi: 10.1101/2024.08.31.610610. bioRxiv. 2024. PMID: 39282442 Free PMC article. Preprint.
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Qebibo L, Davakan A, Nesson-Dauphin M, Boulali N, Siquier-Pernet K, Afenjar A, Amiel J, Bartholdi D, Barth M, Blondiaux E, Cristian I, Frazier Z, Goldenberg A, Good JM, Salussolia CL, Sahin M, McCullagh H, McDonald K, McRae A, Morrison J, Pinner J, Shinawi M, Toutain A, Vyhnálková E, Wheeler PG, Wilnai Y, Hausman-Kedem M, Coolen M, Cantagrel V, Burglen L, Lory P. Qebibo L, et al. Among authors: good jm. Genet Med. 2024 Dec 12:101337. doi: 10.1016/j.gim.2024.101337. Online ahead of print. Genet Med. 2024. PMID: 39674904
High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.
Coukos A, Saglietti C, Sempoux C, Haubitz M, Greuter T, Mittaz-Crettol L, Maurer F, Mdawar-Bailly E, Moradpour D, Alberio L, Good JM, Baerlocher GM, Fraga M. Coukos A, et al. Among authors: good jm. Hepatol Commun. 2024 Jul 22;8(8):e0500. doi: 10.1097/HC9.0000000000000500. eCollection 2024 Aug 1. Hepatol Commun. 2024. PMID: 39037376 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: good jm. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
141 results