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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4181732/
https://ncbi.nlm.nih.gov/pubmed/25258038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0146-0
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars