par 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
Référence Annals of neurology, 87, 2, page (217-232)
Publication Publié, 2020


Référence Annals of neurology, 87, 2, page (217-232)
Publication Publié, 2020
Article révisé par les pairs
Titre: |
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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:scp/85077147655 | |
info:pmid/31794073 | |
PMC6980348 |