المؤلفون: B. Borroni, M. Grassi, M. Bianchi, A. C. Bruni, R. G. Maletta, M. Anfossi, D. Pepe, A. Cagnin, P. Caffarra, S. Cappa, F. Clerici, A. Daniele, G. B. Frisoni, L. Parnetti, R. Perri, I. Rainero, L. Tremolizzo, M. Turla, O. Zanetti, A. Padovani, D. Galimberti

المساهمون: B. Borroni, M. Grassi, M. Bianchi, A.C. Bruni, R.G. Maletta, M. Anfossi, D. Pepe, A. Cagnin, P. Caffarra, S. Cappa, F. Clerici, A. Daniele, G.B. Frisoni, D. Galimberti, L. Parnetti, R. Perri, I. Rainero, L. Tremolizzo, M. Turla, O. Zanetti, A. Padovani

مصطلحات موضوعية: Frontotemporal dementia, frontotemporal lobar degeneration, genetic, heritability, inheritance, Age of Onset, Aged, Female, Human, Italy, Male, Middle Aged, Parent, Registrie, Sex Factor, Inheritance Pattern, Medicine (all), Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23719513; info:eu-repo/semantics/altIdentifier/wos/WOS:000337918000004; volume:41; issue:2; firstpage:371; lastpage:376; numberofpages:6; journal:JOURNAL OF ALZHEIMER'S DISEASE; http://hdl.handle.net/2434/514438Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84927566601

الإتاحة: https://doi.org/10.3233/JAD-130128Test
http://hdl.handle.net/2434/514438Test

المؤلفون: Sandro Sorbi, Orso Bugiani, Lorenzo Pinessi, Innocenzo Rainero, Carmine Tomaino, Livia Bernardi, B. Terni, Alfredo Postiglione, Alessandra Clodomiro, Sabina Pappatà, J. F. Foncin, R. Di Lorenzo, N. Abbamondi, Raffaele Maletta, M. Anfossi, L. Nee, Francesca Frangipane, P H St George Hyslop, A. Leotta, M. G. Muraca, Sabrina A.M. Curcio, Graziella Milan, Giorgio Giaccone, Gianfranco Puccio, Elisa Rubino, Amalia C. Bruni, Ekaterina Rogaeva, Silvana Geracitano, Rosanna Colao, Maura Gallo, Maria Grazia Spillantini, Gianluigi Forloni, Maria Mirabelli, Nicoletta Smirne, S Lio

المصدر: Neurology 74 (2010): 798–806. doi:10.1212/WNL.0b013e3181d52785
info:cnr-pdr/source/autori: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;Pappatà S;Postiglione A;Abbamondi N;Forloni G;St George Hyslop P;Rogaeva E;Bugiani O;Giaccone G;Foncin JF;Spillantini MG;Puccio G./titolo:Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation./doi:10.1212%2FWNL.0b013e3181d52785/rivista:Neurology/anno:2010/pagina_da:798/pagina_a:806/intervallo_pagine:798–806/volume:74

مصطلحات موضوعية: Adult, Male, Alzheimer disease, presenilin 1, Genotype, International Cooperation, Population, Biology, Global Health, PSEN1 mutation, History, 21st Century, Presenilin, History, 17th Century, Methionine, Gene Frequency, Alzheimer Disease, Fluorodeoxyglucose F18, Leucine, Presenilin-1, PSEN1, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Prefrontal cortex, Family Health, Genetics, Memory Disorders, education.field_of_study, Brain, Articles, Middle Aged, Alzheimer's disease, medicine.disease, founder effect, Phenotype, Dorsolateral prefrontal cortex, medicine.anatomical_structure, Italy, Positron-Emission Tomography, Mutation, Mutation (genetic algorithm), Female, Neurology (clinical), Cognition Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f79a5059afdc1cd6987baed55d02717Test
http://hdl.handle.net/2318/152288Test

المؤلفون: John Hardy, Francesca Frangipane, Ekaterina Rogaeva, Silvana Geracitano, Gianfranco Puccio, Carmine Tomaino, Yosuke Wakutani, S. Pradella, Livia Bernardi, M. Anfossi, Amalia C. Bruni, Christine Sato, P. St. George-Hyslop, Parastoo Momeni, Rosanna Colao, Raffaele Maletta, T. Kawarai, Maria Mirabelli, Nicoletta Smirne, Andrew Kertesz, Joshua W. Elder, A. Costanzo, Sabrina A.M. Curcio, Maura Gallo

المصدر: Neurology. 69(2)

مصطلحات موضوعية: Proband, Adult, Genetic Markers, Male, Heterozygote, Genotype, DNA Mutational Analysis, Biology, Cohort Studies, Progranulins, Gene Frequency, mental disorders, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Age of Onset, Allele frequency, Aged, Phenocopy, Genetics, Aged, 80 and over, Genetic heterogeneity, Genetic Carrier Screening, Haplotype, Middle Aged, medicine.disease, Pedigree, Italy, Mutation (genetic algorithm), Mutation, Intercellular Signaling Peptides and Proteins, Dementia, Female, Neurology (clinical), Frontotemporal dementia, Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f03ecc110fc922bde08a3aeab258c89eTest
https://pubmed.ncbi.nlm.nih.gov/17620543Test