Cargando…
SPG7 mutations are a common cause of undiagnosed ataxia
Autores principales: | Pfeffer, Gerald, Pyle, Angela, Griffin, Helen, Miller, Jack, Wilson, Valerie, Turnbull, Lisa, Fawcett, Katherine, Sims, David, Eglon, Gail, Hadjivassiliou, Marios, Horvath, Rita, Németh, Andrea, Chinnery, Patrick F. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371411/ https://www.ncbi.nlm.nih.gov/pubmed/25681447 http://dx.doi.org/10.1212/WNL.0000000000001369 |
Ejemplares similares
-
Exome sequencing in undiagnosed inherited and sporadic ataxias
por: Pyle, Angela, et al.
Publicado: (2015) -
Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB
por: Keogh, Michael J., et al.
Publicado: (2015) -
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia
por: Guthrie, Grant, et al.
Publicado: (2012) -
Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
por: Daud, Daniyal, et al.
Publicado: (2015) -
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
por: Dad, Rubina, et al.
Publicado: (2017)