نتائج البحث - "P H St George Hyslop"

المساهمون: E. Rubino, I. Rainero, A. Chiò, E. Rogaeva, D. Galimberti, P. Fenoglio, Y. Grinberg, G. Isaia, A. Calvo, S. Gentile, A.C. Bruni, P.H. St George-Hyslop, E. Scarpini, S. Gallone, L. Pinessi

مصطلحات موضوعية: Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Brain, Female, Frontotemporal Lobar Degeneration, Humans, Male, Middle Aged, Mutation, Missense, Promoter Regions, Genetic, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22972638; info:eu-repo/semantics/altIdentifier/wos/WOS:000309806600012; volume:79; issue:15; firstpage:1556; lastpage:1562; numberofpages:7; journal:NEUROLOGY; http://hdl.handle.net/2434/229340Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867543551

الإتاحة: https://doi.org/10.1212/WNL.0b013e31826e25dfTest
http://hdl.handle.net/2434/229340Test

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6

Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation

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

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O4‐01‐05: Genetic variants in 14q chromosomal region are associated with memory in late‐onset Alzheimer's disease

المؤلفون: Sandra Barral, Rafael Lantigua, Christiane Reitz, Vincent Santana, P H St George Hyslop, Joseph H. Lee, Jennifer Williamson, Rong Cheng, Richard Mayeux, Ekaterina Rogaeva

المصدر: Alzheimer's & Dementia. 5

مصطلحات موضوعية: Genetics, Epidemiology, Health Policy, Genetic variants, Late onset, Disease, Biology, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Chromosomal region, Neurology (clinical), Geriatrics and Gerontology, Common disease-common variant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4628082e8ac58450a01e95e397dcda31Test
https://doi.org/10.1016/j.jalz.2009.05.517Test

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Molecular genetics of Alzheimer's disease and other adult-onset dementias

المؤلفون: P. H. St George-Hyslop

مصطلحات موضوعية: Apolipoprotein E, Genetics, medicine.medical_specialty, Pathology, medicine.diagnostic_test, Genetic counseling, Disease, medicine.disease, Presenilin, Huntington's disease, Molecular genetics, medicine, Dementia, Psychology, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4944bba673c59e2c50cb44dcb92a27d7Test
https://doi.org/10.1017/cbo9780511543555.030Test

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دورية أكاديمية

Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease

المساهمون: E. I. Rogaev, W. J. Lukiw, G. Vaula, J. L. Haine, E. A. Rogaeva, T. Tsuda, N. Alexandrova, Y. Liang, M. Mortilla, L. Amaducci, L. Bergamini, A. C. Bruni, J. F. Foncin, F. Macciardi, M. Montesi, S. Sorbi, I. Rainero, L. Pinessi, R. J. Polinsky, P. Frommelt, R. Duara, R. Lopez, D. Pollen, J. F. Gusella, R. Tanzi, D. MacLachlan, D. Crapper, P. H. St George-Hyslop

مصطلحات موضوعية: Pedigree, Genetic Linkage, Promoter Regions, Genetic, Polymorphism, Human, Restriction Mapping, Alzheimer Disease, Adult, Middle Aged, Genes, fo, Chromosomes, Pair 14, Amyloid beta-Protein Precursor, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/8232942; info:eu-repo/semantics/altIdentifier/wos/WOS:A1993MH65200023; volume:43; issue:11; firstpage:2275-9; lastpage:2279; journal:NEUROLOGY; http://hdl.handle.net/2434/201436Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0027363954

الإتاحة: http://hdl.handle.net/2434/201436Test

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10

دورية أكاديمية

Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases

المساهمون: R. E., Tanzi, G., Vaula, D. M., Romano, M., Mortilla, T. L., Huang, Tupler, Rossella, W., Wasco, B. T., Hyman, J. L., Haine, B. J., Jenkin, M., Kalaitsidaki, A. C., Warren, M. C., Mcinni, S. E., Antonaraki, H., Karlinsky, M. E., Percy, L., Connor, J., Growdon, D. R., Crapper McIachlan, J. F., Gusella, P. H., St George Hyslop

مصطلحات موضوعية: beta Amyloid Protein Precursor gene, polymorphism, familial Alzheimer's disease

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/1642228; info:eu-repo/semantics/altIdentifier/wos/WOS:A1992JF77600006; volume:51; firstpage:273; lastpage:282; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11380/459468Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0026648493

الإتاحة: http://hdl.handle.net/11380/459468Test

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