par Gallo, S; Randi, D; Bertelli, Matteo; Salviati, Al; Pandolfo, Massimo Liste de publications
Référence Journal of neurology, neurosurgery and psychiatry, 75, 4, (page 655-657)
Publication Publié, 2004-04
Article révisé par les pairs
Titre :
  • Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.
Auteur : Gallo, S ; Randi, D ; Bertelli, Matteo ; Salviati, Al ; Pandolfo, Massimo
Informations sur la publication : Journal of neurology, neurosurgery and psychiatry, 75, 4, (page 655-657)
Statut de publication : Publié, 2004-04
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Alleles
Cerebral Ventricles -- pathology
Cerebroside-Sulfatase -- genetics
Corpus Callosum -- pathology
Dementia -- diagnosis
Dementia -- genetics
Disease Progression
Dominance, Cerebral -- physiology
Exons -- genetics
Follow-Up Studies
Frontal Lobe -- pathology
Heterozygote Detection
Humans
Image Enhancement
Leukodystrophy, Metachromatic -- diagnosis
Leukodystrophy, Metachromatic -- genetics
Magnetic Resonance Imaging
Male
Middle Aged
Mutation, Missense -- genetics
Neurologic Examination
Polymerase Chain Reaction
Sequence Analysis, DNA
Synaptic Transmission -- physiology
Note : Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langue :
  • Anglais
Identificateurs : urn:issn:0022-3050 
info:pmid/15026521
info:pmcid/PMC1739033