Duchenne muscular dystrophy || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• 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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