Titre:
  • ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Auteur:Villar-Quiles, Rocío Nur; Catervi, Fabio; Cabet, Eva; Juntas-Morales, Raul; Genetti, Casie C.A.; Gidaro, Teresa; Koparir, Asuman; Yüksel, Adnan; Coppens, Sandra; Deconinck, Nicolas; Pierce-Hoffman, Emma; Lornage, Xavière; Durigneux, Julien; Laporte, Jocelyn; Rendu, John; Romero, Norma Beatriz; Beggs, Alan A.H.; Servais, Lara; Cossée, Mireille; Olivé, Montse; Böhm, Johann; Duband-Goulet, Isabelle; Ferreiro, Ana
Informations sur la publication:Annals of neurology, 87, 2, page (217-232)
Statut de publication:Publié, 2020
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adult
Amino Acid Transport System y+ -- metabolism -- physiology
Cell Cycle -- physiology
Cells, Cultured
Child
Child, Preschool
Female
Fibroblasts -- physiology
Humans
Infant
Male
Middle Aged
Muscle Proteins -- genetics
Muscle, Skeletal -- pathology -- physiopathology
Muscular Diseases -- genetics -- physiopathology
Mutation
Pedigree
Phenotype
Transcription Factors -- genetics
Langue:Anglais
Identificateurs:urn:issn:0364-5134
info:doi/10.1002/ana.25660
info:pmid/31794073
PMC6980348