Követés
Sandro Sorbi
Sandro Sorbi
University of Florence, Professor & Chairman of Neurology, IRCCS Fondazione Don Carlo Gnocchi
E-mail megerősítve itt: unifi.it
Cím
Hivatkozott rá
Hivatkozott rá
Év
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Nature 29 (375), 754-760, 1995
5655*1995
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
JC Lambert, CA Ibrahim-Verbaas, D Harold, AC Naj, R Sims, ...
Nature genetics 45 (12), 1452-1458, 2013
47462013
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
JC Lambert, S Heath, G Even, D Campion, K Sleegers, M Hiltunen, ...
Nature genetics 41 (10), 1094-1099, 2009
29232009
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
EI Rogaev, R Sherrington, EA Rogaeva, G Levesque, M Ikeda, Y Liang, ...
Nature 376 (6543), 775-778, 1995
27781995
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ...
Nature genetics 51 (3), 414-430, 2019
26732019
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
P Hollingworth, D Harold, R Sims, A Gerrish, JC Lambert, ...
Nature genetics 43 (5), 429-435, 2011
23222011
The genetic defect causing familial Alzheimer's disease maps on chromosome 21
PH St George-Hyslop, RE Tanzi, RJ Polinsky, JL Haines, L Nee, ...
Science 235 (4791), 885-890, 1987
16631987
New insights into the genetic etiology of Alzheimer’s disease and related dementias
C Bellenguez, F Küçükali, IE Jansen, L Kleineidam, S Moreno-Grau, ...
Nature genetics 54 (4), 412-436, 2022
15832022
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
E Rogaeva, Y Meng, JH Lee, Y Gu, T Kawarai, F Zou, T Katayama, ...
Nature genetics 39 (2), 168-177, 2007
14522007
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and βAPP processing
G Yu, M Nishimura, S Arawaka, D Levitan, L Zhang, A Tandon, YQ Song, ...
Nature 407 (6800), 48-54, 2000
12982000
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
12112019
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
HJ Watson, Z Yilmaz, LM Thornton, C Hübel, JRI Coleman, HA Gaspar, ...
Nature genetics 51 (8), 1207-1214, 2019
10402019
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
R Sims, SJ Van Der Lee, AC Naj, C Bellenguez, N Badarinarayan, ...
Nature genetics 49 (9), 1373-1384, 2017
10122017
Cognitive dysfunction in early-onset multiple sclerosis: a reappraisal after 10 years
MP Amato, G Ponziani, G Siracusa, S Sorbi
Archives of neurology 58 (10), 1602-1606, 2001
9882001
Multicenter standardized 18F-FDG PET diagnosis of mild cognitive impairment, Alzheimer's disease, and other dementias
L Mosconi, WH Tsui, K Herholz, A Pupi, A Drzezga, G Lucignani, ...
Journal of nuclear medicine 49 (3), 390-398, 2008
9012008
APOE and Alzheimer disease: a major gene with semi-dominant inheritance
E Genin, D Hannequin, D Wallon, K Sleegers, M Hiltunen, O Combarros, ...
Molecular psychiatry 16 (9), 903-907, 2011
8392011
EFNS guidelines for the diagnosis and management of Alzheimer’s disease
J Hort, JT O’Brien, G Gainotti, T Pirttila, BO Popescu, I Rektorová, S Sorbi, ...
European Journal of Neurology 17 (10), 1236-1248, 2010
8052010
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14
P St George-Hyslop, J Haines, EI Rogaev, M Mortilla, G Vaula, ...
Nature genetics 2 (4), 330-334, 1992
6791992
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis
JD Rohrer, JM Nicholas, DM Cash, J van Swieten, E Dopper, L Jiskoot, ...
The Lancet Neurology 14 (3), 253-262, 2015
5962015
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder
PH St George-Hyslop, JL Haines, LA Farrer, R Polinsky, CV Broeckhoven, ...
Nature 347 (6289), 194-197, 1990
5121990
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