G
Grazia Annesi
Researcher at National Research Council
Publications - 141
Citations - 7126
Grazia Annesi is an academic researcher from National Research Council. The author has contributed to research in topics: Parkinson's disease & Parkinsonism. The author has an hindex of 36, co-authored 132 publications receiving 6372 citations. Previous affiliations of Grazia Annesi include Magna Græcia University.
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Journal ArticleDOI
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
Ellen Sidransky,Mike A. Nalls,Jan O. Aasly,Judith Aharon-Peretz,Grazia Annesi,Egberto Reis Barbosa,Anat Bar-Shira,Daniela Berg,Jose Bras,Jose Bras,Alexis Brice,Alexis Brice,Chiung-Mei Chen,Lorraine N. Clark,Christel Condroyer,Elvira Valeria De Marco,Alexandra Durr,Alexandra Durr,Michael J. Eblan,Stanley Fahn,Matthew J. Farrer,Hon-Chung Fung,Ziv Gan-Or,Thomas Gasser,Ruth Gershoni-Baruch,Ruth Gershoni-Baruch,Nir Giladi,Nir Giladi,Alida Griffith,Tanya Gurevich,Tanya Gurevich,Cristina Januário,Peter Kropp,Anthony E. Lang,Guey Jen Lee-Chen,Suzanne Lesage,Karen Marder,Ignacio F. Mata,Anat Mirelman,Jun Mitsui,Ikuko Mizuta,Giuseppe Nicoletti,Giuseppe Nicoletti,Catarina R. Oliveira,Ruth Ottman,Avi Orr-Urtreger,Lygia da Veiga Pereira,Aldo Quattrone,Aldo Quattrone,Ekaterina Rogaeva,Arndt Rolfs,Hanna Rosenbaum,Roberto Rozenberg,Ali Samii,Ali Samii,Ali Samii,Ted Samaddar,Claudia Schulte,Manu Sharma,Manu Sharma,Andrew B. Singleton,Andrew B. Singleton,Mariana Spitz,Mariana Spitz,Eng-King Tan,Eng-King Tan,Nahid Tayebi,Tatsushi Toda,André R. Troiano,Shoji Tsuji,Matthias Wittstock,Tyra G. Wolfsberg,Yih-Ru Wu,Cyrus P. Zabetian,Yi Zhao,Shira G. Ziegler +75 more
TL;DR: Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.
Journal ArticleDOI
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
De Fusco M,Andrea Becchetti,Patrignani A,Grazia Annesi,Antonio Gambardella,Aldo Quattrone,Andrea Ballabio,Enzo Wanke,Giorgio Casari +8 more
TL;DR: The newly identified locus associated with ENFL3 harbours several candidate genes, including CHRNB2 (ref. 8), whose gene product, the β2 nicotinic acetylcholine receptor (nAChR) subunit, co-assembles with the α4 nAchR subunit to form the active receptor.
Journal ArticleDOI
Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
Bethan Jones,Emma L. Jones,Stephanie A. Bonney,Hetal Patel,Arjen R. Mensenkamp,Sophie Eichenbaum-Voline,Mats Rudling,Urban Myrdal,Grazia Annesi,Sandhia Naik,N Meadows,Aldo Quattrone,Suhail A. Islam,Rossitza P. Naoumova,Bo Angelin,Recaredo Infante,Emile Levy,Claude C. Roy,Paul S. Freemont,James Scott,Carol C. Shoulders +20 more
TL;DR: The data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell.
Journal ArticleDOI
A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
Mike A. Nalls,Raquel Duran,Grisel Lopez,Marzena Kurzawa-Akanbi,Ian G. McKeith,Patrick F. Chinnery,Christopher Morris,Jessie Theuns,Jessie Theuns,David Crosiers,David Crosiers,Patrick Cras,Sebastiaan Engelborghs,Peter Paul De Deyn,Christine Van Broeckhoven,Christine Van Broeckhoven,David M. A. Mann,Julie S. Snowden,Stuart Pickering-Brown,Nicola Halliwell,Yvonne S Davidson,Linda Gibbons,Jenny Harris,Una-Marie Sheerin,Jose Bras,John Hardy,Lorraine N. Clark,Karen Marder,Lawrence S. Honig,Daniela Berg,Walter Maetzler,Kathrin Brockmann,Thomas Gasser,Fabiana Novellino,Aldo Quattrone,Grazia Annesi,Elvira Valeria De Marco,Ekaterina Rogaeva,Mario Masellis,Mario Masellis,Sandra E. Black,Sandra E. Black,Juan M. Bilbao,Tatiana Foroud,Bernardino Ghetti,William C. Nichols,Nathan Pankratz,Glenda M. Halliday,Suzanne Lesage,Suzanne Lesage,Suzanne Lesage,Stephan Klebe,Alexandra Durr,Charles Duyckaerts,Charles Duyckaerts,Charles Duyckaerts,Alexis Brice,Benoit I. Giasson,John Q. Trojanowski,Howard I. Hurtig,Nahid Tayebi,Claudia Landazabal,Claudia Landazabal,Melanie A. Knight,Margaux F. Keller,Margaux F. Keller,Andrew B. Singleton,Tyra G. Wolfsberg,Ellen Sidransky +68 more
TL;DR: In this paper, the authors found a significant association between GBA1 mutation carrier status and DLB, with an odds ratio of 8.28 (95% CI, 4.78-14.88).
Journal ArticleDOI
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Owen A. Ross,Alexandra I. Soto-Ortolaza,Michael G. Heckman,Jan O. Aasly,Nadine Abahuni,Grazia Annesi,Justin A. Bacon,Soraya Bardien,Maria Bozi,Alexis Brice,Laura Brighina,Christine Van Broeckhoven,Christine Van Broeckhoven,Jonathan Carr,Marie-Christine Chartier-Harlin,Marie-Christine Chartier-Harlin,Efthimios Dardiotis,Efthimios Dardiotis,Dennis W. Dickson,Nancy N. Diehl,Alexis Elbaz,Alexis Elbaz,Carlo Ferrarese,Alessandro Ferraris,Brian K. Fiske,J. Mark Gibson,Rachel A. Gibson,Georgios M. Hadjigeorgiou,Georgios M. Hadjigeorgiou,Nobutaka Hattori,John P. A. Ioannidis,John P. A. Ioannidis,Barbara Jasinska-Myga,Beom S. Jeon,Yun Joong Kim,Christine Klein,Rejko Krüger,Elli Kyratzi,Suzanne Lesage,Suzanne Lesage,Suzanne Lesage,Chin-Hsien Lin,Timothy Lynch,Demetrius M. Maraganore,George D. Mellick,Eugénie Mutez,Eugénie Mutez,Christer Nilsson,Grzegorz Opala,Sung Sup Park,Andreas Puschmann,Aldo Quattrone,Manu Sharma,Peter A. Silburn,Young H. Sohn,Leonidas Stefanis,Vera Tadic,Jessie Theuns,Jessie Theuns,Hiroyuki Tomiyama,Ryan J. Uitti,Enza Maria Valente,Simone Van De Loo,Demetrios K. Vassilatis,Carles Vilariño-Güell,Linda R. White,Karin Wirdefeldt,Zbigniew K. Wszolek,Ruey-Meei Wu,Matthew J. Farrer,Matthew J. Farrer +70 more
TL;DR: The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk, and are important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed.