Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging...

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Publicat a:Orphanet J Rare Dis
Autors principals: Zambonin, Jessica L., Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Dudding-Byth, Tracy, Boycott, Kym M.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5490223/
https://ncbi.nlm.nih.gov/pubmed/28659154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0672-7
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