Alpha-synuclein repeat variants and survival in Parkinson's disease

Autor: Georgios M. Hadjigeorgiou, Jan O. Aasly, Zbigniew K. Wszolek, Anna Rita Bentivoglio, Katerina Markopoulou, Demetrius M. Maraganore, Suzanne Lesage, Alexis Elbaz, Joanna M. Biernacka, Yun Joong Kim, Andreas Puschmann, Christine Van Broeckhoven, Beom S. Jeon, Grazia Annesi, Marie-Christine Chartier-Harlin, Roberta Frigerio, Stefano Goldwurm, Sebastian M. Armasu, Eng-King Tan, David Crosiers, George D. Mellick, Sun Ju Chung, Barbara Jasinska-Myga, Laura Brighina, Jessie Theuns, Rejko Krüger, Kari J. Anderson, Karen E. Morrison, Karin Wirdefeldt

Publikováno v: Movement Disorders. 29:1053-1057

Objectives: To determine whether alpha-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium provided REP1 genot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::955e36e9804d976769ccc70729ba6874
https://doi.org/10.1002/mds.25841

Mutations in glucocerebrosidase are a major genetic risk factor for Parkinsons disease and increase susceptibility to dementia in a Flanders-Belgian cohort

Autor: Aline Verstraeten, Sebastiaan Engelborghs, Peter Paul De Deyn, Patrick Cras, Maria Mattheijssens, Eline Wauters, Karin Peeters, Christine Van Broeckhoven, David Crosiers, Jessie Theuns

Publikováno v: Neuroscience letters

Objective: To investigate the frequency of glucocerebrosidase (GBA) mutations in a Flanders-Belgian Parkinson's disease (PD) patient cohort and to assess genotype-phenotype correlations. Methods: We performed an in-depth sequencing of all coding exon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0def51f5a4989cdda294c5a25ac38c6
https://hdl.handle.net/10067/1351010151162165141

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Autor: Peter Lichtner, Ryan J. Uitti, George D. Mellick, Georgios M. Hadjigeorgiou, Carles Vilariño-Güell, Kuo Chu Yueh, Georg Auburger, Peter A. Silburn, Andrew A. Hicks, Suzana Gispert, Y. Zhao, Gaëtan Garraux, Timothy Lynch, Harumi S. Yomono, Maria Barcikowska, Miho Murata, Suzanne Lesage, Eng-King Tan, Joanne D. Stockton, Lars Bertram, Owen A. Ross, Sung Sup Park, Alexander Zimprich, Barbara Jasinska-Myga, Thomas Gasser, Karin Wirdefeldt, Alexis Brice, Rejko Krüger, Beomseok Jeon, Christina M. Lill, Vincent Mok, Wataru Satake, Hiroyuki Tomiyama, Tim M. Strom, Matthew J. Farrer, Cecile Libioulle, Grzegorz Opala, Peter P. Pramstaller, Irene Pichler, Grazia Annesi, Demetrius M. Maraganore, Jessie Theuns, Jan O. Aasly, Maria Bozi, Anna Krygowska-Wajs, John P. A. Ioannidis, Zbigniew K. Wszolek, Carl E Clarke, Karen E. Morrison, Nobutaka Hattori, Zygmunt Jamrozik, Maurizio F. Facheris, Manu Sharma, Thomas Meitnger, Tatsushi Toda, Aldo Quattrone, Christine Van Broeckhoven, Ekaterina Rogaeva, Leonidas Stefanis, Georgia Xiromerisiou, David Crosiers, Juei-Jueng Lin, Anthony E. Lang

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics (London)
J. Med. Genet. 49, 721-726 (2012)
Journal of medical genetics 49(11), 721-726 (2012). doi:10.1136/jmedgenet-2012-101155
Journal of medical genetics

Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a70c6bef5aa372e836a800c03c1a389
http://europepmc.org/articles/PMC3488700

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population

Autor: Karen Nuytemans, Bram Meeus, Dirk Goossens, Christine Van Broeckhoven, Sebastiaan Engelborghs, Jurgen Del-Favero, Peter Paul De Deyn, Marleen Van den Broeck, Philippe Pals, Nathalie Brouwers, Ellen Corsmit, Barbara A. Pickut, Jessie Theuns, Patrick Cras, David Crosiers

Publikováno v: Human mutation

The relative contribution of simple mutations and copy number variations (CNVs) in SNCA, PARK2, PINK1, PARK7, and LRRK2 to the genetic etiology of Parkinson disease (PD) is still unclear because most studies did not completely analyze each gene. In a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d82355fcc547a2444072213455fd7c00
https://doi.org/10.1002/humu.21007

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

Autor: Kenan Kamali, Jean-Jacques Martin, Nathalie Brouwers, Jessie Theuns, Sebastiaan Engelborghs, Kristel Sleegers, Christine Van Broeckhoven, Sally Serneels, Peter Paul De Deyn, Ellen Corsmit, Veerle Bogaerts, Evelyn De Leenheir

Publikováno v: Brain

It is well established that Alzheimer's disease causing mutations in APP, PSEN1 and PSEN2 lead to a relative increased production of Abeta42, thereby fostering its deposition in plaques. Recently others and we showed that amyloid precursor protein (A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79b43c13a2b51ae556cd07c36bec031
https://doi.org/10.1093/brain/awl212