Titre:
  • SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review
Auteur:Remiche, Gauthier; Vandernoot, Isabelle; Sadeghi-Meibodi, Niloufar; Desmyter, Laurence
Informations sur la publication:Neurogenetics
Statut de publication:Publié, 2021-04-01
Sujet CREF:Sciences cognitives
Biologie
Génétique clinique
Mots-clés:ALS
C19orf12
NBIA4
SPG43
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1364-6745
info:doi/10.1007/s10048-020-00631-4
info:scp/85098802163