Titre:
  • REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Auteur:Beetz, Christian; Schüle, Rebecca; Deconinck, Tine; Tran-Viet, Khanh-Nhat; Zhu, Hui; Kremer, B; Frints, Suzanna G M; van Zelst-Stams, Wendy A G; Byrne, Paula; Otto, Susanne; Nygren, Anders O H; Baets, Jonathan; Smets, Katrien; Ceulemans, Berten; Dan, Bernard; Nagan, Narasimhan; Kassubek, Jan; Klimpe, Sven; Klopstock, Thomas; Stolze, Henning; Smeets, Hubert J M; Schrander-Stumpel, Constance T R M; Hutchinson, Michael; van de Warrenburg, B P; Braastad, Corey; Deufel, Thomas; Pericak-Vance, M A; Schöls, Lüdger; de Jonghe, Peter; Züchner, Stephan
Informations sur la publication:Brain, 131, Pt 4, page (1078-1086)
Statut de publication:Publié, 2008-04
Sujet CREF:Sciences bio-médicales et agricoles
Psychologie
Mots-clés:Haploinsufficiency
Hereditary spastic paraplegia
Micro RNA
REEP1
SPG31
MeSH keywords:Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Child
Child, Preschool
DNA Mutational Analysis -- methods
Female
Genotype
Humans
Infant
Male
Membrane Transport Proteins -- genetics
Middle Aged
Mutation
Pedigree
Phenotype
Spastic Paraplegia, Hereditary -- genetics
Note générale:Journal Article
Multicenter Study
Langue:Anglais
Identificateurs:urn:issn:0006-8950
info:doi/10.1093/brain/awn026
info:pii/awn026
info:scp/41849124507
info:pmid/18321925
PMC2841798