Titre:
  • Early onset Huntington disease: a neuronal degeneration syndrome.
Auteur:Seneca, Sara; Fagnart, Domique; Keymolen, Kathelijn; Lissens, Willy; Hasaerts, Daniele; Debulpaep, Sara; Desprechins, Brigitte; Liebaers, Ingeborg; De Meirleir, Linda
Informations sur la publication:European journal of pediatrics, 163, 12, page (717-721)
Statut de publication:Publié, 2004-12
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Atrophy -- pathology
Brain -- pathology
Child, Preschool
Chromosomes, Human, Pair 4
Female
Humans
Huntingtin Protein
Huntington Disease -- diagnosis -- genetics -- physiopathology
Magnetic Resonance Imaging
Mutation
Nerve Tissue Proteins -- genetics
Nuclear Proteins -- genetics
Psychomotor Performance -- physiology
Seizures -- etiology
Trinucleotide Repeats
Langue:Anglais
Identificateurs:urn:issn:0340-6199
info:doi/10.1007/s00431-004-1537-3
info:pmid/15338298