Worldwide distribution of PSEN1 Met146Leu mutation: A large variability for a founder mutation(834 views) Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappata S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2010 Mar 9; 74(10): 798-806.
Keywords: Leucine, Methionine, Presenilin 1, Adult, Alzheimer Disease, Amnesia, Article, Brain Disease, Brain Dysfunction, Controlled Study, Disorientation, Female, Frontal Cortex, Gene Mutation, Genealogy, Geography, Groups By Age, Human, Immunoblotting, Major Clinical Study, Neuropsychology, Phenotype, Prefrontal Cortex, Priority Journal, Cognition Disorders, Family Health, Fluorodeoxyglucose F18, Gene Frequency, Genetic Predisposition To Disease, Genetic Testing, Genotype, History, 17th Century, 21st Century, International Cooperation, Italy, Memory Disorders, Middle Aged, Positron-Emission Tomography, World Health,
Affiliations: *** IBB - CNR ***
Centro Regionale di Neurogenetica, Azienda Sanitaria Provinciale Catanzaro, Viale A. Perugini, 88046 Lamezia Terme (CZ), Italy
Pathology Department, ASP Catanzaro, Lamezia Terme, CZ, Italy
Neurology II-Department of Neuroscience, University of Turin, Italy
Brain Repair Centre, Cambridge, United Kingdom
Department of Neurological Science, University of Florence, Italy
National Institutes of Health, Bethesda, MD, United States
Dementia Study Center, Department of Clinical and Experimental Disease, University Federico II and ASL-Napoli 1, Naples, Italy
Institute of Biomaging and Biostructures, CNR, Naples, Italy
Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Canada
Laboratoire de Neurohistologie EPHE, Brie Comte Robert, France
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Worldwide distribution of PSEN1 Met146Leu mutation: A large variability for a founder mutation