Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: A case report

BACKGROUND: The autosomal dominant spinocerebellar ataxias (SCAs) confine a group of rare and heterogeneous disorders, which present with progressive ataxia and numerous other features e.g. peripheral neuropathy, macular degeneration and cognitive impairment, and a subset of these disorders is cause...

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Detalles Bibliográficos
Autores principales: Nielsen, Troels Tolstrup, Mardosiene, Skirmante, Løkkegaard, Annemette, Stokholm, Jette, Ehrenfels, Susanne, Bech, Sara, Friberg, Lars, Nielsen, Jens Kellberg, Nielsen, Jørgen E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475097/
https://www.ncbi.nlm.nih.gov/pubmed/22889412
http://dx.doi.org/10.1186/1471-2377-12-73

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475097/
https://www.ncbi.nlm.nih.gov/pubmed/22889412
http://dx.doi.org/10.1186/1471-2377-12-73

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