The Genetics of

Autor: Ilse, Gijselinck, Marc, Cruts, Christine, Van Broeckhoven

Publikováno v: Cold Spring Harbor perspectives in medicine. 8(4)

Repeat expansions in the promoter region of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical heterogeneity among p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::931257accde69319ab411057e295d7f1
https://pubmed.ncbi.nlm.nih.gov/28130313

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Autor: Isabel Santana, Estrella Gómez-Tortosa, Federica Perrone, Patrick Cras, Alexandre de Mendonça, Jonathan Baets, Panagiotis Alexopoulos, Peter De Jonghe, Alessandro Padovani, Giovanni B. Frisoni, Frederico Simões do Couto, Håkan Thonberg, Philip Van Damme, Silvia Testi, Peter Paul De Deyn, Roberta Ghidoni, Matthew J. Fraidakis, Marc Bruyland, Maria Rosário Almeida, Alex Michotte, Jordi Clarimón, Agustín Ruiz, Jean Delbeck, Ilse Gijselinck, Jennifer Just, Olivier Deryck, Raquel Sánchez-Valle, Wim Robberecht, Matthis Synofzik, Giuliano Binetti, Adrian Ivanoiu, Sara Ortega-Cubero, Rik Vandenberghe, Isabel Hernández, Walter Maetzler, Ludger Schöls, Robert Perneczky, Kristel Sleegers, Ellen Gelpi, Alberto Lleó, Christine Van Broeckhoven, Julie van der Zee, Mercè Boada, Lubina Dillen, Eric Salmon, Marc Cruts, Patrick Santens, Sebastiaan Engelborghs, Janine Diehl-Schmid, Albert Lladó, Gian Maria Fabrizi, Radoslav Matej, Silvia Bagnoli, Pau Pastor, Frank Jessen, Barbara Borroni, Dirk Nuytten, Adrian Danek, Jan Versijpt, Bavo Heeman, Stayko Sarafov, Caroline Graff, Benedetta Nacmias, Luisa Benussi, Bart Dermaut, Johan Goeman, Michael T. Heneka, Katrien Smets, Gabor G. Kovacs, Christiana Willems, Sara Van Mossevelde, Albena Jordanova, Jan De Bleecker, Ricardo Rojas-García, Alfredo Ramirez, Bruno Bergmans, Ivailo Tournev, Veerle Bäumer, Gabriel Miltenberger-Miltenyi, Sandro Sorbi

Publikováno v: Human Mutation, Vol. 38, No 3 (2017) pp. 297-309
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto de Salud Carlos III (ISCIII)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation
Human mutation
Human mutation 38(3), 297-309 (2017). doi:10.1002/humu.23161

© 2016 The Authors. **Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109e18977c1b5c191638868beaace792
http://hdl.handle.net/10044/1/45933

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

Autor: Kevin J. Verstrepen, Philip Van Damme, Wim Robberecht, Ana Jovičić, Elke Bogaert, Greet De Baets, Anne Sieben, Ilse Gijselinck, Wendy Scheveneels, Emiel Michiels, Aaron D. Gitler, Marc Cruts, Ivy Cuijt, Frederic Rousseau, Christine Van Broeckhoven, Jolien Steyaert, Ludo Van Den Bosch, Steven Boeynaems, Patrick Callaerts, Joost Schymkowitz

Publikováno v: Scientific Reports
Scientific reports
SCIENTIFIC REPORTS

Hexanucleotide repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) (c9ALS/FTD). Unconventional translation of these repeats produces dipeptide repeat proteins (DPRs) that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07e982f5984976dda5c19fdfdf62545
https://lirias.kuleuven.be/handle/123456789/531641

DT‐02‐01: Loss‐of‐function mutations in TBK1 are frequently associated with frontotemporal lobar degeneration in a belgian patient cohort

Autor: Mathieu Vandenbulcke, Sara Van Mossevelde, Marc Cruts, Sebastiaan Engelborghs, Patrick Cras, Jean-Jacques Martin, Marleen Van den Broeck, Ilse Gijselinck, Bavo Heeman, Peter De Jonghe, Rik Vandenberghe, Anne Sieben, Maria Mattheijssens, Ivy Cuijt, Karin Peeters, Christine Van Broeckhoven, Peter Paul De Deyn

Publikováno v: Alzheimer's & Dementia. 11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::38b90a536d27b2c15c685d1e76966fce
https://doi.org/10.1016/j.jalz.2015.08.157

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

Autor: Frederic Rousseau, Maria Mattheijssens, Julie van der Zee, Ivy Cuijt, Bavo Heeman, Christine Van Broeckhoven, Ilse Gijselinck, Stéphanie Philtjens, Sara Van Mossevelde, Jean-Jacques Martin, Karin Peeters, Peter De Jonghe, Marc Cruts, Greet De Baets, Veerle Bäumer, Peter Paul De Deyn, Patrick Cras, Marleen Van den Broeck, Mathieu Vandenbulcke, Sebastiaan Engelborghs, Anne Sieben, Rik Vandenberghe

Publikováno v: Neurology
NEUROLOGY
Neurology, 85(24), 2116-2125. LIPPINCOTT WILLIAMS & WILKINS

Objective: To assess the genetic contribution of TBK1, a gene implicated in amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in Belgian FTD and ALS patient cohorts containing a significant part of genetically unresolve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22041f48411d3d75d87a2964904b9558
https://hdl.handle.net/10067/1290130151162165141