R
Ruth Gershoni-Baruch
Researcher at Technion – Israel Institute of Technology
Publications - 75
Citations - 6079
Ruth Gershoni-Baruch is an academic researcher from Technion – Israel Institute of Technology. The author has contributed to research in topics: Population & Familial Mediterranean fever. The author has an hindex of 32, co-authored 75 publications receiving 5551 citations. Previous affiliations of Ruth Gershoni-Baruch include Boston Children's Hospital & University of Haifa.
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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
Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews
TL;DR: The results suggest that heterozygosity for a GBA mutation may predispose Ashkenazi Jews to Parkinson's disease.
Journal ArticleDOI
Recurrent severe infections caused by a novel leukocyte adhesion deficiency
Amos Etzioni,M. Frydman,Pollack S,I Avidor,M. L. Phillips,James C. Paulson,Ruth Gershoni-Baruch +6 more
TL;DR: The recruitment of neutrophils to sites of inflammation is initiated by the local production of bacteria-derived attractants, inflammatory cytokines, and other host-derived factors.
Journal ArticleDOI
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3
Bettina Lorenz-Depiereux,Anna Benet-Pagès,Gertrud Eckstein,Yardena Tenenbaum-Rakover,Janine Wagenstaller,Dov Tiosano,Ruth Gershoni-Baruch,Ruth Gershoni-Baruch,Norbert Albers,Peter Lichtner,Dirk Schnabel,Zeev Hochberg,Zeev Hochberg,Tim M. Strom +13 more
TL;DR: Identification of the gene mutated in a further form of hypophosphatemia adds to the understanding of phosphate homeostasis and may help to elucidate the interaction of the proteins involved in this pathway.
Journal ArticleDOI
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Martin Zenker,Julia Mayerle,Markus M. Lerch,Andreas Tagariello,Klaus Zerres,Peter R. Durie,Matthias Beier,Georg Hülskamp,Celina Guzman,Helga Rehder,Frits A. Beemer,Ben C.J. Hamel,Philippe Vanlieferinghen,Ruth Gershoni-Baruch,Marta W. Vieira,Miroslav Dumić,Ron Auslender,Vera Lúcia Gil-da-Silva-Lopes,Simone Steinlicht,Manfred Rauh,Stavit A. Shalev,Christian Thiel,Andreas Winterpacht,Yong Tae Kwon,Alexander Varshavsky,André Reis +25 more
TL;DR: Findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway.