REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
par 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
Référence Brain, 131, Pt 4, page (1078-1086)
Publication Publié, 2008-04
Référence Brain, 131, Pt 4, page (1078-1086)
Publication Publié, 2008-04
Article révisé par les pairs
Titre: |
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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 |