Sandro Sorbi
Sandro Sorbi
University of Florence, Professor & Chairman of Neurology, IRCCS Fondazione Don Carlo Gnocchi
Adresse e-mail validée de unifi.it
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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Nature 29 (375), 754-760, 1995
4969*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
29352013
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
24451995
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
22752009
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
16782011
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
11862007
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
11862000
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
8062001
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
6892019
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
6852008
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
6342010
Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14
PH St George-Hyslop, JL Haines, EI Rogaev, M Mortilla, G Vaula, ...
Nature genetics 2 (4), 330-334, 1992
6081992
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
5052011
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
4902017
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder
PH St George-Hyslop, JL Haines, LA Farrer, R Polinsky, ...
Nature 347 (6289), 194-197, 1990
4831990
Association of early‐onset Alzheimer's disease with an interleukin‐1α gene polymorphism
LME Grimaldi, VM Casadei, C Ferri, F Veglia, F Licastro, G Annoni, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
4412000
MCI conversion to dementia and the APOE genotype: a prediction study with FDG-PET
L Mosconi, D Perani, S Sorbi, K Herholz, B Nacmias, V Holthoff, E Salmon, ...
Neurology 63 (12), 2332-2340, 2004
4022004
Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain
S Sorbi, ED Bird, JP Blass
Annals of Neurology: Official Journal of the American Neurological …, 1983
3871983
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant
R Sherrington, S Froelich, S Sorbi, D Campion, H Chi, EA Rogaeva, ...
Human molecular genetics 5 (7), 985-988, 1996
3501996
Neocortical volume decrease in relapsing–remitting MS patients with mild cognitive impairment
MP Amato, ML Bartolozzi, V Zipoli, E Portaccio, M Mortilla, L Guidi, ...
Neurology 63 (1), 89-93, 2004
3462004
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