SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

Mutations in the synaptic nuclear envelope protein 1 ( SYNE1 ) gene have been reported to cause a relatively pure, slowly progressive cerebellar recessive ataxia mostly identified in Quebec, Canada. Combining next-generation sequencing techniques and deep-phenotyping (clinics, magnetic resonance ima...

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Publicado no:Brain
Main Authors: Synofzik, Matthis, Smets, Katrien, Mallaret, Martial, Di Bella, Daniela, Gallenmüller, Constanze, Baets, Jonathan, Schulze, Martin, Magri, Stefania, Sarto, Elisa, Mustafa, Mona, Deconinck, Tine, Haack, Tobias, Züchner, Stephan, Gonzalez, Michael, Timmann, Dagmar, Stendel, Claudia, Klopstock, Thomas, Durr, Alexandra, Tranchant, Christine, Sturm, Marc, Hamza, Wahiba, Nanetti, Lorenzo, Mariotti, Caterina, Koenig, Michel, Schöls, Ludger, Schüle, Rebecca, de Jonghe, Peter, Anheim, Mathieu, Taroni, Franco, Bauer, Peter
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6363274/
https://ncbi.nlm.nih.gov/pubmed/27086870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww079
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