BIOMICs (GENÓMICA, TRANSCRIPTÓMICA Y EPIGENÓMICA)
Hospital Universitari de Bellvitge
l'Hospitalet de Llobregat, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital Universitari de Bellvitge (4)
2019
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A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)
Neurobiology of Aging, Vol. 84, pp. 236.e9-236.e15
2017
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Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain
Dementia and Geriatric Cognitive Disorders, Vol. 44, Núm. 3-4, pp. 213-221
2013
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A novel form of human disease
Prion Biology: Research and Advances (Apple Academic Press), pp. 179-210
2010
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Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291