From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.
Nature communications 2017 Jan 8 14143.
Hogarth Marshall W, Houweling Peter J, Thomas Kristen C, Gordish-Dressman Heather, Bello Luca, , Pegoraro Elena, Hoffman Eric P, Head Stewart I, North Kathryn - Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2016 Dec .
Cruz-Aguilar Marisa, Guerrero-de Ferran Caroline, Tovilla-Canales Jose Luis, Nava-Castañeda Angel, Zenteno Juan - ?-Sarcoglycan and Dystrophin Mutation Spectrum in an Algerian Cohort.
Muscle & nerve 2016 Oct .
Dalichaouche Imene, Sifi Yamina, Roudaut Carinne, Sifi Karima, Hamri Abdelmadjid, Rouabah Leila, Abadi Noureddine, Richard Isabel - Association Study of Exon Variants in the NF-?B and TGF? Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
American journal of human genetics 2016 Oct .
Bello Luca, Flanigan Kevin M, Weiss Robert B, , Spitali Pietro, Aartsma-Rus Annemieke, Muntoni Francesco, Zaharieva Irina, Ferlini Alessandra, Mercuri Eugenio, Tuffery-Giraud Sylvie, Claustres Mireille, Straub Volker, Lochmüller Hanns, Barp Andrea, Vianello Sara, Pegoraro Elena, Punetha Jaya, Gordish-Dressman Heather, Giri Mamta, McDonald Craig M, Hoffman Eric P, - Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.
Physiological research / Academia Scientiarum Bohemoslovaca 2016 Aug .
Stránecký V, Ne?oldová M, Hoda?ová K, Hartmannová H, Piherová L, Zemánková P, P?istoupilová A, Vrablík M, Adámková V, Kmoch S, Jirsa
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