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Sandro Sorbi
Researcher at University of Florence
Publications - 569
Citations - 43177
Sandro Sorbi is an academic researcher from University of Florence. The author has contributed to research in topics: Frontotemporal dementia & Dementia. The author has an hindex of 82, co-authored 507 publications receiving 37504 citations. Previous affiliations of Sandro Sorbi include University of Wales & Cornell University.
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Journal ArticleDOI
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
R. Sherrington,Evgeny I. Rogaev,Yan Liang,Ekaterina Rogaeva,G. Levesque,M. Ikeda,H. Chi,Chih-Ping Lin,Gavin Li,K. Holman,T. Tsuda,L. Mar,J. F. Foncin,Amalia C. Bruni,Mp Montesi,Sandro Sorbi,Innocenzo Rainero,Lorenzo Pinessi,L. Nee,Ilya Chumakov,Daniel A. Pollen,A. Brookes,Philippe Sanseau,R. Polinsky,Wilma Wasco,H. A. R. Da Silva,Jonathan L. Haines,Margaret A. Pericak-Vance,Rudolph E. Tanzi,A. D. Roses,Paul E. Fraser,Johanna M. Rommens,P. St. George-Hyslop +32 more
TL;DR: A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.
Journal ArticleDOI
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
Jean-Charles Lambert,Jean-Charles Lambert,Jean-Charles Lambert,Carla A. Ibrahim-Verbaas,Denise Harold,Adam C. Naj,Rebecca Sims,Céline Bellenguez,Céline Bellenguez,Céline Bellenguez,Gyungah Jun,Anita L. DeStefano,Joshua C. Bis,Gary W. Beecham,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Giancarlo Russo,Tricia A. Thornton-Wells,Nicola Jones,Albert V. Smith,Vincent Chouraki,Vincent Chouraki,Vincent Chouraki,Charlene Thomas,M. Arfan Ikram,Diana Zelenika,Badri N. Vardarajan,Yoichiro Kamatani,Chiao-Feng Lin,Amy Gerrish,Helena Schmidt,Brian W. Kunkle,Melanie L. Dunstan,Agustín Ruiz,Marie-Thérèse Bihoreau,Seung Hoan Choi,Christiane Reitz,Florence Pasquier,Paul Hollingworth,Alfredo Ramirez,Olivier Hanon,Annette L. Fitzpatrick,Joseph D. Buxbaum,Dominique Campion,Paul K. Crane,Clinton T. Baldwin,Tim Becker,Tim Becker,Vilmundur Gudnason,Carlos Cruchaga,David Craig,Najaf Amin,Claudine Berr,Oscar L. Lopez,Philip L. De Jager,Philip L. De Jager,Vincent Deramecourt,Janet A. Johnston,Denis A. Evans,Simon Lovestone,Luc Letenneur,Francisco J. Morón,David C. Rubinsztein,Gudny Eiriksdottir,Kristel Sleegers,Kristel Sleegers,Alison Goate,Nathalie Fievet,Nathalie Fievet,Matthew J. Huentelman,Michael Gill,Kristelle Brown,M. Ilyas Kamboh,Lina Keller,Pascale Barberger-Gateau,Bernadette McGuinness,Eric B. Larson,Eric B. Larson,Robert C. Green,Amanda J. Myers,Carole Dufouil,Stephen Todd,David Wallon,Seth Love,Ekaterina Rogaeva,John Gallacher,Peter St George-Hyslop,Peter St George-Hyslop,Jordi Clarimón,Alberto Lleó,Anthony Bayer,Debby W. Tsuang,Lei Yu,Magda Tsolaki,Paola Bossù,Gianfranco Spalletta,Petroula Proitsi,John Collinge,Sandro Sorbi,Florentino Sanchez-Garcia,Nick C. Fox,John Hardy,Maria Candida Deniz Naranjo,Paolo Bosco,Robert Clarke,Carol Brayne,Daniela Galimberti,Michelangelo Mancuso,Fiona E. Matthews,Genetic,Environmental Risk in Alzheimer's Disease,Environmental Risk in Alzheimer's Disease,Cohorts for Heart,Cohorts for Heart,Susanne Moebus,Patrizia Mecocci,Maria Del Zompo,Wolfgang Maier,Wolfgang Maier,Harald Hampel,Harald Hampel,Alberto Pilotto,María J. Bullido,María J. Bullido,Francesco Panza,Paolo Caffarra,Paolo Caffarra,Benedetta Nacmias,John R. Gilbert,Manuel Mayhaus,Lars Lannfelt,Hakon Hakonarson,Sabrina Pichler,Minerva M. Carrasquillo,Martin Ingelsson,Duane Beekly,Victoria Alvarez,Fanggeng Zou,Otto Valladares,Steven G. Younkin,Eliecer Coto,Kara L. Hamilton-Nelson,Wei Gu,Cristina Razquin,Pau Pastor,Ignacio Mateo,Michael John Owen,Kelley Faber,Palmi V. Jonsson,Onofre Combarros,Michael Conlon O'Donovan,Laura B. Cantwell,Hilkka Soininen,Deborah Blacker,Simon Mead,Thomas H. Mosley,David A. Bennett,Tamara B. Harris,Laura Fratiglioni,Laura Fratiglioni,Clive Holmes,Renée F.A.G. de Bruijn,Peter Passmore,Thomas J. Montine,Karolien Bettens,Karolien Bettens,Jerome I. Rotter,Alexis Brice,Alexis Brice,Kevin Morgan,Tatiana Foroud,Walter A. Kukull,Didier Hannequin,John Powell,Mike A. Nalls,Karen Ritchie,Kathryn L. Lunetta,John S. K. Kauwe,Eric Boerwinkle,Eric Boerwinkle,Matthias Riemenschneider,Mercè Boada,Mikko Hiltunen,Eden R. Martin,Reinhold Schmidt,Dan Rujescu,Li-San Wang,Jean-François Dartigues,Jean-François Dartigues,Richard Mayeux,Christophe Tzourio,Albert Hofman,Markus M. Nöthen,Caroline Graff,Caroline Graff,Bruce M. Psaty,Bruce M. Psaty,Lesley Jones,Jonathan L. Haines,Peter Holmans,Mark Lathrop,Mark Lathrop,Margaret A. Pericak-Vance,Lenore J. Launer,Lindsay A. Farrer,Cornelia M. van Duijn,Christine Van Broeckhoven,Christine Van Broeckhoven,Valentina Moskvina,Sudha Seshadri,Julie Williams,Gerard D. Schellenberg,Philippe Amouyel,Philippe Amouyel,Philippe Amouyel +215 more
TL;DR: In addition to the APOE locus (encoding apolipoprotein E), 19 loci reached genome-wide significance (P < 5 × 10−8) in the combined stage 1 and stage 2 analysis, of which 11 are newly associated with Alzheimer's disease.
Journal ArticleDOI
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
Evgeny I. Rogaev,R. Sherrington,Ekaterina Rogaeva,G. Levesque,M. Ikeda,Yan Liang,H. Chi,Chih-Ping Lin,K. Holman,T. Tsuda,L. Mar,Sandro Sorbi,Benedetta Nacmias,Silvia Piacentini,Luigi Amaducci,Ilya Chumakov,David M. Cohen,Lars Lannfelt,Paul E. Fraser,Johanna M. Rommens,P. St. George-Hyslop +20 more
TL;DR: Analysis of the nucleotide sequence of the open reading frame of the E5-1 gene led to the discovery of two missense substitutions at conserved amino-acid residues in affected members of pedigrees with a form of familial AD that has a later age of onset than the AD3 subtype (5070 years versus 3060 years for AD3).
Journal ArticleDOI
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Paul Hollingworth,Denise Harold,Rebecca Sims,Amy Gerrish,Jean-Charles Lambert,Jean-Charles Lambert,Jean-Charles Lambert,Minerva M. Carrasquillo,Richard Abraham,Marian L. Hamshere,Jaspreet Singh Pahwa,Valentina Moskvina,Kimberley Dowzell,Nicola Jones,Alexandra Stretton,Charlene Thomas,Alexander Richards,Dobril Ivanov,Caroline S. Widdowson,Jade Chapman,Simon Lovestone,John Powell,Petroula Proitsi,Michelle K. Lupton,Carol Brayne,David C. Rubinsztein,Michael Gill,Brian A. Lawlor,Aoibhinn Lynch,Kristelle Brown,Peter Passmore,David Craig,Bernadette McGuinness,Stephen Todd,Clive Holmes,David M. A. Mann,A. David Smith,Helen Beaumont,Donald Warden,Gordon K. Wilcock,Seth Love,Patrick G. Kehoe,Nigel M. Hooper,Emma R L C Vardy,John Hardy,Simon Mead,Nick C. Fox,Martin N. Rossor,John Collinge,Wolfgang Maier,Frank Jessen,Eckart Rüther,Britta Schürmann,R. Heun,Heike Kölsch,Hendrik van den Bussche,Isabella Heuser,Johannes Kornhuber,Jens Wiltfang,Martin Dichgans,Lutz Frölich,Harald Hampel,John Gallacher,Michael Hüll,Dan Rujescu,Ina Giegling,Alison Goate,John S. K. Kauwe,Carlos Cruchaga,Petra Nowotny,John C. Morris,Kevin Mayo,Kristel Sleegers,Karolien Bettens,Sebastiaan Engelborghs,Peter Paul De Deyn,Christine Van Broeckhoven,Gill Livingston,Nicholas Bass,Hugh Gurling,Andrew McQuillin,Rhian Gwilliam,Panagiotis Deloukas,Ammar Al-Chalabi,Christopher Shaw,Magda Tsolaki,Andrew B. Singleton,Rita Guerreiro,Thomas W. Mühleisen,Markus M. Nöthen,Susanne Moebus,Karl-Heinz Jöckel,Norman Klopp,H.-Erich Wichmann,V. Shane Pankratz,Sigrid Botne Sando,Jan O. Aasly,Maria Barcikowska,Zbigniew K. Wszolek,Dennis W. Dickson,Neill R. Graff-Radford,Ronald C. Petersen,Cornelia M. van Duijn,Monique M.B. Breteler,M. Arfan Ikram,Anita L. DeStefano,Annette L. Fitzpatrick,Oscar L. Lopez,Lenore J. Launer,Sudha Seshadri,Claudine Berr,Dominique Campion,Jacques Epelbaum,Jean-François Dartigues,Christophe Tzourio,Annick Alpérovitch,Mark Lathrop,T. Feulner,Patricia Friedrich,Caterina Riehle,Michael Krawczak,Stefan Schreiber,Manuel Mayhaus,S. Nicolhaus,Stefan Wagenpfeil,Stacy Steinberg,Hreinn Stefansson,Kari Stefansson,Jon Snaedal,Sigurbjorn Bjornsson,Palmi V. Jonsson,Vincent Chouraki,Vincent Chouraki,Vincent Chouraki,Benjamin Genier-Boley,Benjamin Genier-Boley,Benjamin Genier-Boley,Mikko Hiltunen,Hilkka Soininen,Onofre Combarros,Diana Zelenika,Marc Delepine,María J. Bullido,Florence Pasquier,Ignacio Mateo,Ana Frank-García,Elisa Porcellini,Olivier Hanon,Eliecer Coto,Victoria Alvarez,Paolo Bosco,Gabriele Siciliano,Michelangelo Mancuso,Francesco Panza,Vincenzo Solfrizzi,Benedetta Nacmias,Sandro Sorbi,Paola Bossù,Paola Piccardi,Beatrice Arosio,Giorgio Annoni,Davide Seripa,Alberto Pilotto,Elio Scarpini,Daniela Galimberti,Alexis Brice,Didier Hannequin,Federico Licastro,Lesley Jones,Peter Holmans,Thorlakur Jonsson,Matthias Riemenschneider,Kevin Morgan,Steven G. Younkin,Michael John Owen,Michael Conlon O'Donovan,Philippe Amouyel,Julie Williams +177 more
TL;DR: Meta-analyses of all data provided compelling evidence that ABCA7 and the MS4A gene cluster are new Alzheimer's disease susceptibility loci and independent evidence for association for three loci reported by the ADGC, which, when combined, showed genome-wide significance.
Journal ArticleDOI
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.
Valentina Escott-Price,Céline Bellenguez,Li-San Wang,Seung Hoan Choi,Denise Harold,Lesley Jones,Peter Holmans,Amy Gerrish,Alexey Vedernikov,Alexander Richards,Anita L. DeStefano,Jean-Charles Lambert,Carla A. Ibrahim-Verbaas,Adam C. Naj,Rebecca Sims,Gyungah Jun,Joshua C. Bis,Gary W. Beecham,Benjamin Grenier-Boley,Giancarlo Russo,Tricia A. Thornton-Wells,Nicola Denning,Albert V. Smith,Vincent Chouraki,Charlene Thomas,M. Arfan Ikram,Diana Zelenika,Badri N. Vardarajan,Badri N. Vardarajan,Yoichiro Kamatani,Chiao-Feng Lin,Helena Schmidt,Brian W. Kunkle,Melanie L. Dunstan,Maria Vronskaya,Andrew D. Johnson,Agustín Ruiz,Marie-Thérèse Bihoreau,Christiane Reitz,Florence Pasquier,Paul Hollingworth,Olivier Hanon,Annette L. Fitzpatrick,Joseph D. Buxbaum,Dominique Campion,Paul K. Crane,Clinton T. Baldwin,Tim Becker,Vilmundur Gudnason,Carlos Cruchaga,David Craig,Najaf Amin,Claudine Berr,Oscar L. Lopez,Philip L. De Jager,Philip L. De Jager,Vincent Deramecourt,Janet A. Johnston,Denis A. Evans,Simon Lovestone,Luc Letenneur,Isabel Hernández,David C. Rubinsztein,Gudny Eiriksdottir,Kristel Sleegers,Alison Goate,Nathalie Fievet,Matthew J. Huentelman,Michael Gill,Kristelle Brown,M. Ilyas Kamboh,Lina Keller,Pascale Barberger-Gateau,Bernadette McGuinness,Eric B. Larson,Eric B. Larson,Amanda J. Myers,Carole Dufouil,Stephen Todd,David Wallon,Seth Love,Ekaterina Rogaeva,John Gallacher,Peter St George-Hyslop,Jordi Clarimón,Alberto Lleó,Antony James Bayer,Debby W. Tsuang,Lei Yu,Magda Tsolaki,Paola Bossù,Gianfranco Spalletta,Petra Proitsi,John Collinge,Sandro Sorbi,Florentino Sanchez Garcia,Nick C. Fox,John Hardy,Maria Candida Deniz Naranjo,Paolo Bosco,Robert Clarke,Carol Brayne,Daniela Galimberti,Elio Scarpini,Ubaldo Bonuccelli,Michelangelo Mancuso,Gabriele Siciliano,Susanne Moebus,Patrizia Mecocci,Maria Del Zompo,Wolfgang Maier,Harald Hampel,Alberto Pilotto,Ana Frank-García,Francesco Panza,Vincenzo Solfrizzi,Paolo Caffarra,Benedetta Nacmias,William Perry,Manuel Mayhaus,Lars Lannfelt,Hakon Hakonarson,Sabrina Pichler,Minerva M. Carrasquillo,Martin Ingelsson,Duane Beekly,Victoria Alvarez,Fanggeng Zou,Otto Valladares,Steven G. Younkin,Eliecer Coto,Kara L. Hamilton-Nelson,Wei Gu,Cristina Razquin,Pau Pastor,Ignacio Mateo,Michael John Owen,Kelley Faber,Palmi V. Jonsson,Onofre Combarros,Michael Conlon O'Donovan,Laura B. Cantwell,Hilkka Soininen,Deborah Blacker,Simon Mead,Thomas H. Mosley,David A. Bennett,Tamara B. Harris,Laura Fratiglioni,Laura Fratiglioni,Clive Holmes,Renée F.A.G. de Bruijn,Peter Passmore,Thomas J. Montine,Karolien Bettens,Jerome I. Rotter,Alexis Brice,Kevin Morgan,Tatiana Foroud,Walter A. Kukull,Didier Hannequin,John Powell,Mike A. Nalls,Karen Ritchie,Kathryn L. Lunetta,John S. K. Kauwe,Eric Boerwinkle,Matthias Riemenschneider,Mercè Boada,Mikko Hiltunen,Eden R. Martin,Reinhold Schmidt,Dan Rujescu,Jean-François Dartigues,Richard Mayeux,Christophe Tzourio,Albert Hofman,Markus M. Nöthen,Caroline Graff,Bruce M. Psaty,Bruce M. Psaty,Jonathan L. Haines,Jonathan L. Haines,Mark Lathrop,Margaret A. Pericak-Vance,Lenore J. Launer,Christine Van Broeckhoven,Lindsay A. Farrer,Cornelia M. van Duijn,Alfredo Ramirez,Sudha Seshadri,Sudha Seshadri,Gerard D. Schellenberg,Philippe Amouyel,Julie Williams +194 more
TL;DR: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimers disease.