Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia

Autor: Hanneke Geut, John C. van Swieten, Vincenzo Bonifati, Annemieke J.M. Rozemuller, Guido J. Breedveld, Frank Jan de Jong, Leonie J.M. Vergouw, Wilma D.J. van de Berg, Netherlands Brain Bank, Demy J.S. Kuipers, Marialuisa Quadri

Publikováno v: Netherlands Brain Bank 2020, ' Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia ', Journal of Alzheimer's disease : JAD, vol. 76, no. 3, pp. 1161-1170 . https://doi.org/10.3233/JAD-200318, https://doi.org/10.3233/JAD-200318
Journal of Alzheimer's Disease, 76(3), 1161-1170. IOS Press BV
Journal of Alzheimer's Disease
Journal of Alzheimer's Disease, 76, 1161-1170. IOS Press
Journal of Alzheimer's disease : JAD, 76(3), 1161-1170. IOS Press

Background: Rare variants in the low-density lipoprotein receptor related protein 10 gene (LRP10) have recently been implicated in the etiology of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). Objective: We searched for LRP10 varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d730f760a5a5ad8a373a14be6988144b
https://doi.org/10.3233/jad-200318

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

Autor: Vincenzo Bonifati, Jonathan Carr, Rick van Minkelen, Wilfred F. J. van IJcken, Guido J. Breedveld, Demy J.S. Kuipers, Rutger W W Brouwer, Boiketlo Sebate, Marialuisa Quadri, Pearl Thomas, Marjon van Slegtenhorst, Soraya Bardien

Publikováno v: Movement Disorders. 33:1814-1819

Background The genetic bases of PD in sub-Saharan African (SSA) populations remain poorly characterized, and analysis of SSA families with PD might lead to the discovery of novel disease-related genes. Objectives To investigate the clinical features

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4ae36b29dcd39a46a3fb58015425d9c7
https://doi.org/10.1002/mds.27501

TMEM230 : How does it fit in the etiology and pathogenesis of Parkinson's disease?

Autor: Vincenzo Bonifati, Maria Stamelou, Wim Mandemakers, Marialuisa Quadri

Publikováno v: Movement Disorders. 32:1159-1162

Mutations in the transmembrane protein 230 (TMEM230) gene were recently identified in a large Canadian pedigree and 7 smaller Chinese families, nominating TMEM230 as the third gene causing a Mendelian form of late onset Parkinson's disease (PD) with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a05d94f8471fc22a263c76b2c87b1511
https://doi.org/10.1002/mds.27061

Neuropathological and genetic characteristics of a post-mortem series of cases with dementia with Lewy bodies clinically suspected of Creutzfeldt-Jakob's disease

Autor: F.J. de Jong, Yvon Galis, Marialuisa Quadri, Afina W. Lemstra, Leonie J.M. Vergouw, A. Ingrassia, Hanneke Geut, Vincenzo Bonifati, W. D. J. van de Berg, A.J.M. Rozemuller

Publikováno v: Parkinsonism and Related Disorders, 63, 162. Elsevier BV
Geut, H, Vergouw, L J M, Galis, Y, Ingrassia, A, de Jong, F J, Quadri, M, Bonifati, V, Lemstra, A W, Rozemuller, A J M & van de Berg, W D J 2019, ' Neuropathological and genetic characteristics of a post-mortem series of cases with dementia with Lewy bodies clinically suspected of Creutzfeldt-Jakob's disease ', Parkinsonism and Related Disorders, vol. 63, pp. 162-168 . https://doi.org/10.1016/j.parkreldis.2019.02.011, https://doi.org/10.1016/j.parkreldis.2019.02.011
Parkinsonism & Related Disorders, 63, 162-168. Elsevier
Parkinsonism and Related Disorders, 63, 162-168. Elsevier BV

Introduction The disease course of dementia with Lewy bodies (DLB) can be rapidly progressive, clinically resembling Creutzfeldt-Jakob's disease (CJD). To better understand factors contributing to this rapidly progressive disease course, we describe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6881a453c6772fc82a0fb3a36a46e473
https://dspace.library.uu.nl/handle/1874/391396

Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes

Autor: Paula P Navarro, Amanda J Lewis, Tim Moors, Jürgen Hench, Wilma D.J. van de Berg, Jing Wang, Vincenzo Bonifati, Andreas Staempfli, Markus Britschgi, Annemieke J.M. Rozemuller, Frederik Großerüschkamp, Henning Stahlberg, Stephan Frank, Evelien Huisman, Klaus Gerwert, Daniel Niedieker, Wilfred F. J. van IJcken, Yvonne de Gier, Rosmarie Sütterlin, Gabriel Schweighauser, Angela Ingrassia, Kenneth N. Goldie, Joerg Hoernschemeyer, Anne De Paepe, Sarah H Shahmoradian, Matthias E. Lauer, Johannes Erny, Alexandra Graff-Meyer, Christel Genoud, Marialuisa Quadri, Bernd Bohrmann, Daniel Castaño-Díez, Samir F. El-Mashtoly

Publikováno v: Shahmoradian, S H, Lewis, A J, Genoud, C, Hench, J R, Moors, T E, Navarro, P P, Castaño-Díez, D, Schweighauser, G, Graff-Meyer, A, Goldie, K N, Sütterlin, R, Huisman, E, Ingrassia, A, Gier, Y D, Rozemuller, A J M, Wang, J, Paepe, A D, Erny, J, Staempfli, A, Hoernschemeyer, J, Großerüschkamp, F, Niedieker, D, el-Mashtoly, S F, Quadri, M, van IJcken, W F J, Bonifati, V, Gerwert, K, Bohrmann, B, Frank, S, Britschgi, M, Stahlberg, H, van de Berg, W D J & Lauer, M E 2019, ' Lewy pathology in Parkinson’s disease consists of crowded organelles and lipid membranes ', Nature Neuroscience, vol. 22, no. 7, pp. 1099-1109 . https://doi.org/10.1038/s41593-019-0423-2
Nature Neuroscience, 22(7), 1099-+. Nature Publishing Group
Nature Neuroscience, 22(7), 1099-1109. Nature Publishing Group

Parkinson's disease, the most common age-related movement disorder, is a progressive neurodegenerative disease with unclear etiology. Key neuropathological hallmarks are Lewy bodies and Lewy neurites: neuronal inclusions immunopositive for the protei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b1dc002c6518905c4185595a0f3b06
https://research.vumc.nl/en/publications/06f8f039-13aa-44ee-a512-b049e4ba1194