Titre :
  • TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.
Auteur : Del Bo, R ; Ghezzi, S ; Corti, S ; Pandolfo, Massimo ; Ranieri, M ; Santoro, D ; Ghione, I ; Prelle, A ; Orsetti, V ; Mancuso, M ; Sorarù, G ; Briani, C ; Angelini, C ; Siciliano, G ; Bresolin, Nereo ; Comi, Giacomo Pietro
Informations sur la publication : European journal of neurology, 16, 6, (page 727-732)
Statut de publication : Publié, 2009-06
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés : Amyotrophic lateral sclerosis
Missense mutation
Motor neurone dysfunction
TARDBP gene
TDP-43
Mots-clés MeSH : Aged
Amyotrophic Lateral Sclerosis -- genetics
Amyotrophic Lateral Sclerosis -- metabolism
Amyotrophic Lateral Sclerosis -- physiopathology
Base Sequence -- genetics
Belgium
Chromosome Disorders -- genetics
Cross-Sectional Studies
DNA Mutational Analysis
DNA-Binding Proteins -- genetics
Female
Genes, Dominant -- genetics
Genetic Predisposition to Disease -- genetics
Genetic Testing
Genotype
Heterozygote
Heterozygote Detection
Humans
Inheritance Patterns -- genetics
Italy
Male
Middle Aged
Mutation -- genetics
Mutation, Missense -- genetics
Pedigree
Note : Journal Article
Research Support, Non-U.S. Gov't
FLWIN
Langue :
  • Anglais
Identificateurs : urn:issn:1351-5101 
info:doi/10.1111/j.1468-1331.2009.02574.x
info:pii/ENE2574
info:pmid/19236453