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
;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, StephanRéférence 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 |
