STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

BACKGROUND: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is constantly evolving due to new identified disease genes. Recently, reports have l...

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Detalles Bibliográficos
Autores principales: Heimdal, Ketil, Sanchez-Guixé, Monica, Aukrust, Ingvild, Bollerslev, Jens, Bruland, Ove, Jablonski, Greg Eigner, Erichsen, Anne Kjersti, Gude, Einar, Koht, Jeanette A, Erdal, Sigrid, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Boman, Helge, Bjørkhaug, Lise, Tallaksen, Chantal ME, Knappskog, Per M, Johansson, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181732/
https://www.ncbi.nlm.nih.gov/pubmed/25258038
http://dx.doi.org/10.1186/s13023-014-0146-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4181732/
https://www.ncbi.nlm.nih.gov/pubmed/25258038
http://dx.doi.org/10.1186/s13023-014-0146-0

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