Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation

Autor: Sebastiaan Engelborghs, Steven Vermeulen, Mathieu Vandenbulcke, Arne De Roeck, Tobi Van den Bossche, Rik Vandenberghe, Marleen Van den Broeck, Anne Sieben, Jean-Jacques Martin, Annelies Laureys, Peter Paul De Deyn, Caroline Van Cauwenberghe, Patrick Cras, Kristel Sleegers, Maria Mattheijssens, Karin Peeters, Christine Van Broeckhoven, Elise Cuyvers

Publikováno v: Neurology
NEUROLOGY
Neurology, 86(23), 2126-2133. LIPPINCOTT WILLIAMS & WILKINS

OBJECTIVE: To generate a clinical and pathologic phenotype of patients carrying rare loss-of-function mutations in ABCA7, identified in a Belgian Alzheimer patient cohort and in an autosomal dominant family. METHODS: We performed a retrospective revi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0074b1ffad5f91ad6b53b698a1d61fac
https://hdl.handle.net/20.500.14017/b1e98cb3-6051-45a3-9e44-cfb2a8e069c0

P4‐194: The identification of high‐penetrant loss‐of‐function mutations in abca7 in Alzheimer's disease

Autor: Sebastiaan Engelborghs, Mathieu Vandenbulcke, Maria Mattheijssens, Tobi Van den Bossche, Karin Peeters, Peter Paul De Deyn, Christine Van Broeckhoven, Kristel Sleegers, Arne De Roeck, Karolien Bettens, Elise Cuyvers, Steven Vermeulen, Rik Vandenberghe, Caroline Van Cauwenberghe

Publikováno v: Alzheimer's & Dementia. 11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8ed3d93bf46607ddf69e3b6cafa3d9b1
https://doi.org/10.1016/j.jalz.2015.08.022

Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study

Autor: Julie van der Zee, Roberta Ghidoni, Nathalie Geerts, Huei Hsin Chiang, Giovanni B. Frisoni, Alberto Lleó, Céline Merlin, Alessandro Padovani, Maria Rosário Almeida, Christine Van Broeckhoven, Juan Fortea, Sebastiaan Engelborghs, Raquel Sánchez-Valle, Jordi Clarimón, Håkan Thonberg, Pau Pastor, Karolien Bettens, Luisa Benussi, Benedetta Nacmias, Elise Cuyvers, Giuliano Binetti, Caroline Graff, Janine Diehl-Schmid, Caroline Robberecht, Alexandre de Mendonça, Panagiotis Alexopoulos, Lubina Dillen, Sara Ortega-Cubero, Kristel Sleegers, Ellen Gelpi, Rik Vandenberghe, Sandro Sorbi, Maria A. Pastor, Barbara Borroni, Mathieu Vandenbulcke, Gian Maria Fabrizi, Peter Paul De Deyn, Zdenek Rohan, Radoslav Matěj, Isabel Santana, Madalena Martins, Agustín Ruiz, Albert Lladó

Publikováno v: Neurobiology of Aging, Vol. 36, No 5 (2015) pp. 2005.e15-e22
Neurobiology of Aging
Neurobiology of aging
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of Aging, 36(5), 2005.e15-2005.e22. ELSEVIER SCIENCE INC

Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the sequestosome 1 (SQSTM1) gene with AD. We performed targeted resequencing of SQSTM1 in Flanders-Belgi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f26161a4583716c3b1b6e1f51bd850c
https://archive-ouverte.unige.ch/unige:75880

O4‐04‐03: HIGH SCORES ON A 22‐GENE RISK SCORE FOR ALZHEIMER'S DEMENTIA CORRELATE WITH EARLIER ONSET AGE AND REDUCED CSF Aβ

Autor: Kristel Sleegers, Rik Vandenberghe, Christine Van Broeckhoven, Karolien Bettens, Steven Vermeulen, Mathieu Vandenbulcke, Peter Paul De Deyn, Jasper Van Dongen, Caroline Van Cauwenberghe, Arne De Roeck, Jan Verheijen, Sebastiaan Engelborghs, Elise Cuyvers

Publikováno v: Alzheimer's & Dementia. 10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b41f3eb9fd9d1f7cf41eb6244d2640bf
https://doi.org/10.1016/j.jalz.2014.04.404

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

Autor: Hanne Struyfs, John Hardy, Marc Suárez-Calvet, Jean-Jacques Martin, Julie van der Zee, Ebba Lohmann, Andrea Wenninger-Weinzierl, Yoshinori Yamanishi, Juan Fortea, Raquel Sánchez-Valle, Alberto Lleó, Nadine Pettkus, Asli Demirtas-Tatlidede, Fargol Mazaheri, Christine Van Broeckhoven, Henrik Zetterberg, Michael Willem, Michael T. Heneka, Daniel Alcolea, Kristel Sleegers, Gernot Kleinberger, Christian Haass, Sven Lammich, Marco Colonna, Elise Cuyvers, José Luis Molinuevo, Anna Antonell, Hakan Gurvit, Alfredo Ramirez, Tony Wyss-Coray, Sebastiaan Engelborghs, Sabina Tahirovic, Eva Czirr

Publikováno v: Science translational medicine
Science translational medicine 6(243), 243ra86-243ra86 (2014). doi:10.1126/scitranslmed.3009093
Science Translational Medicine
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Genetic variants in the triggering receptor expressed on myeloid cells 2 (TREM2) have been linked to Nasu-Hakola disease, Alzheimer's disease (AD), Parkinson's disease, amyotrophic lateral sclerosis, frontotemporal dementia (FTD), and FTD-like syndro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9a26c869d37ded182b204226376214
https://hdl.handle.net/10067/1186390151162165141