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Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary subcortical vascular dementia. It is caused by mutations in NOTCH3 gene, which encodes a large transmembrane receptor Notch3. The key pathological finding is the accumul...

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Detalles Bibliográficos
Autores principales: Tikka, Saara, Mykkänen, Kati, Ruchoux, Marie-Magdeleine, Bergholm, Robert, Junna, Maija, Pöyhönen, Minna, Yki-Järvinen, Hannele, Joutel, Anne, Viitanen, Matti, Baumann, Marc, Kalimo, Hannu
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668941/
https://www.ncbi.nlm.nih.gov/pubmed/19174371
http://dx.doi.org/10.1093/brain/awn364