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Investigador/s Principal/s :
Jordi Clarimón
jclarimon@santpau.cat
Departament:
Unitat de Memňria
Centre:
Hospital de la Santa Creu i Sant Pau
Institució:
Institut de Recerca - Hospital Sant Pau
Membres: 4
Línia de recerca:
Estudi dels factors genčtics associats a malalties neurodegeneratives.
Àrees:
Transtorns del Sistema Nerviós Central
Cognició
Paraules clau:
Genčtica; Alzheimer; Parkinson; Malalties neuromusculars; Associació; Next Generation Sequencing; Demčncies
Publicacions:
Dols-Icardo et al.Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Hum Mol Genet. Oct 8. [Epub ahead of print]
Ruiz et al.Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer’s disease and frontotemporal dementia. Neurobiol Aging. Sep 13. doi:pii: S0197-4580(13)00345-X
García-Redondo et al. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Hum Mutat. 34(1):79-82. 2013
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