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REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz, Christian; Schüle, Rebecca; Deconinck, Tine; Tran-Viet, Khanh-Nhat; Zhu, Hui; Kremer, Berry P H; 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, Bart P; Braastad, Corey; Deufel, Thomas; Pericak-Vance, Margaret; Schöls, Ludger; de Jonghe, Peter; Züchner, Stephan.
Afiliação
  • Beetz C; Institute for Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Germany.
Brain ; 131(Pt 4): 1078-86, 2008 Apr.
Article em En | MEDLINE | ID: mdl-18321925
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Paraplegia Espástica Hereditária / Mutação Tipo de estudo: Clinical_trials Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2008 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Paraplegia Espástica Hereditária / Mutação Tipo de estudo: Clinical_trials Limite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2008 Tipo de documento: Article