Article révisé par les pairs
Titre:
  • The neurological presentation of ceruloplasmin gene mutations.
Auteur:McNeill, Alisdair; Pandolfo, Massimo; Kuhn, Jens; Shang, Huifang; Miyajima, Hiroaki
Informations sur la publication:European neurology, 60, 4, page (200-205)
Statut de publication:Publié, 2008
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Aceruloplasminemia
Ataxia
Autosomal recessive
Ceruloplasmin
Dementia
Retinal degeneration
MeSH keywords:Adolescent
Adult
Age of Onset
Aged
Ceruloplasmin -- genetics
Female
Humans
Iron Metabolism Disorders -- genetics
Iron Metabolism Disorders -- physiopathology
Male
Metal Metabolism, Inborn Errors -- genetics
Metal Metabolism, Inborn Errors -- physiopathology
Middle Aged
Mutation
Nervous System Diseases -- genetics
Nervous System Diseases -- physiopathology
Note générale:Journal Article
Review
Langue:Anglais
Identificateurs:urn:issn:0014-3022
info:doi/10.1159/000148691
info:pii/000148691
info:scp/48049107099
info:pmid/18667828