Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD) and writer’s dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in...

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Detalles Bibliográficos
Autores principales: Hebert, Eva, Borngräber, Friederike, Schmidt, Alexander, Rakovic, Aleksandar, Brænne, Ingrid, Weissbach, Anne, Hampf, Jennie, Vollstedt, Eva-Juliane, Größer, Leopold, Schaake, Susen, Müller, Michaela, Manzoor, Humera, Jabusch, Hans-Christian, Alvarez-Fischer, Daniel, Kasten, Meike, Kostic, Vladimir S., Gasser, Thomas, Zeuner, Kirsten E., Kim, Han-Joon, Jeon, Beomseok, Bauer, Peter, Altenmüller, Eckart, Klein, Christine, Lohmann, Katja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664126/
https://www.ncbi.nlm.nih.gov/pubmed/29057844
http://dx.doi.org/10.3390/genes8100276

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