Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

Autor: Stefanie Smolders, Stéphanie Philtjens, David Crosiers, Anne Sieben, Elisabeth Hens, Bavo Heeman, Sara Van Mossevelde, Philippe Pals, Bob Asselbergh, Roberto Dos Santos Dias, Yannick Vermeiren, Rik Vandenberghe, Sebastiaan Engelborghs, Peter Paul De Deyn, Jean-Jacques Martin, Patrick Cras, Wim Annaert, Christine Van Broeckhoven, BELNEU consortium

Publikováno v: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-15 (2021)

Abstract Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein pathology. Rare homozygous an

Externí odkaz: https://doaj.org/article/0fced290715347dcbcc51313cf18c4b6

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

Autor: Christine Van Broeckhoven, David Crosiers, Elisabeth Hens, Patrick Cras, Sebastiaan Engelborghs, Stefanie Smolders, Stéphanie Philtjens, Bob Asselbergh, Wim Annaert, Sara Van Mossevelde, Rik Vandenberghe, Anne Sieben, Roberto Dos Santos Dias, Philippe Pals, Bavo Heeman, Yannick Vermeiren, Peter Paul De Deyn, Jean-Jacques Martin

Publikováno v: Acta neuropathologica communications
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-15 (2021)
Acta Neuropathologica Communications 9 (2021) 1
Acta Neuropathologica Communications
Acta Neuropathologica Communications, 9(1)

Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein pathology. Rare homozygous and compoun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c2d31f4e61fdde34f1caf46ac8975a2
https://doi.org/10.1186/s40478-021-01121-w

COGNOS

Autor: Manfredi Ventura, Peter Paul De Deyn, Adelin Albert, Jan De Lepeleire, Adrian Ivanoiu, Tony Mets, An Katrien Seghers, Philippe Pals, Maurits Vandewoude

Publikováno v: Alzheimer disease & associated disorders : an international journal
Alzheimer disease & associated disorders, 27(2), 123-132. LIPPINCOTT WILLIAMS & WILKINS

Care plans are intended to improve the independence and functioning of patients with cognitive dysfunction and support the caregivers involved. They are an integral part of the Belgian reimbursement procedure for cholinesterase inhibitors. This natio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df8aa1368fadfacb9ec5ddb1f0757dd6
https://research.rug.nl/en/publications/86fe6e12-047b-4e75-8be1-b94dcbebc372

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

Transmissible spongiform encephalopathies: the story of a pathogenic protein

Autor: Jean-Jacques Martin, Bart Van Everbroeck, Philippe Pals, Patrick Cras

Publikováno v: Peptides

An overview is provided from the first description of the transmissible spongiform encephalopathies (TSE) to recent major discoveries in this research field. The TSE are a group of diseases in animal and in man caused by a unique pathogen: the prion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7716349b4defee011fa9ef959c132de5
https://doi.org/10.1016/s0196-9781(02)00071-2