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TITLE: Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease  Full Text
AUTHORS: de Roeck, A; van Den Bossche, T; van der Zee, J; Verheijen, J; de Coster, W; van Dongen, J; Dillen, L; Baradaran Heravi, Y; Heeman, B; Sanchez Valle, R; Lladó, A; Nacmias, B; Sorbi, S; Gelpi, E; Grau Rivera, O; Gómez Tortosa, E; Pastor, P; Ortega Cubero, S; Pastor, MA; Graff, C; Thonberg, H; Benussi, L; Ghidoni, R; Binetti, G; de Mendonça, A; Martins, M; Borroni, B; Padovani, A; Almeida, MR; Santana, I; Diehl Schmid, J; Alexopoulos, P; Clarimon, J; Lleó, A; Fortea, J; Tsolaki, M; Koutroumani, M; Matěj, R; Rohan, Z; de Deyn, P; Engelborghs, S; Cras, P; van Broeckhoven, C; Sleegers, K; Bessi, V; Bagnoli, S; Do Couto, FS; Verdelho, A; Fratiglioni, L; Padovani, A; Rohan, Z; Razquin, C; Lorenzo, E; Iglesias, E; Seijo Martínez, M; Rene, R; Gascon, J; Campdelacreu, J; Blesa, R; ...More
PUBLISHED: 2017, SOURCE: ACTA NEUROPATHOLOGICA, VOLUME: 134, ISSUE: 3
INDEXED IN: Scopus WOS
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TITLE: A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease  Full Text
AUTHORS: Jan Verheijen; Tobi Van den Bossche; Julie van der Zee; Sebastiaan Engelborghs; Raquel Sanchez Valle; Albert Llado; Caroline Graff; Hakan Thonberg; Pau Pastor; Sara Ortega Cubero; Maria A Pastor; Luisa Benussi; Roberta Ghidoni; Giuliano Binetti; Jordi Clarimon; Alberto Lleo; Juan Fortea; Alexandre de Mendonca; Madalena Martins; Oriol Grau Rivera; Ellen Gelpi; Karolien Bettens; Ligia Mateiu; Lubina Dillen; Patrick Cras; Peter P De Deyn; Christine Van Broeckhoven; Kristel Sleegers; ...More
PUBLISHED: 2016, SOURCE: ACTA NEUROPATHOLOGICA, VOLUME: 132, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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TITLE: Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations
AUTHORS: Elkin Luis; Alexandra Ortiz; Luis Eudave; Sara Ortega Cubero; Barbara Borroni; Julie van der Zee; Stefano Gazzina; Paola Caroppo; Elisa A E Rubino; Federico D'Agata; Isabelle Le Ber; Isabel Santana; Gil Cunha; Maria R Almeida; Claire Boutoleau Bretonniere; Didier Hannequin; David Wallon; Innocenzo Rainero; Daniela Galimberti; Christine Van Broeckhoven; Maria A Pastor; Pau Pastor; ...More
PUBLISHED: 2016, SOURCE: JOURNAL OF ALZHEIMERS DISEASE, VOLUME: 53, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study  Full Text
AUTHORS: Elise Cuyvers; Julie van der Zee; Karolien Bettens; Sebastiaan Engelborghs; Mathieu Vandenbulcke; Caroline Robberecht; Lubina Dillen; Celine Merlin; Nathalie Geerts; Caroline Graff; Hakan Thonberg; Huei Hsin Chiang; Pau Pastor; Sara Ortega Cubero; Maria A Pastor; Janine Diehl Schmid; Panagiotis Alexopoulos; Luisa Benussi; Roberta Ghidoni; Giuliano Binetti; Benedetta Nacmias; Sandro Sorbi; Raquel Sanchez Valle; Albert Llado; Ellen Gelpi; Maria Rosario Almeida; Isabel Santana; Jordi Clarimon; Alberto Lleo; Juan Fortea; Alexandre de Mendonca; Madalena Martins; Barbara Borroni; Alessandro Padovani; Radoslav Matej; Zdenek Rohan; Agustin Ruiz; Giovanni B Frisoni; Gian Maria Fabrizi; Rik Vandenberghe; Peter P De Deyn; Christine Van Broeckhoven; Kristel Sleegers; ...More
PUBLISHED: 2015, SOURCE: NEUROBIOLOGY OF AGING, VOLUME: 36, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort. HUMAN MUTATION  Full Text
AUTHORS: Rita Cacace; Tobi Van den Bossche; Sebastiaan Engelborghs; Nathalie Geerts; Annelies Laureys; Lubina Dillen; Caroline Graff; Hakan Thonberg; Huei Hsin Chiang; Pau Pastor; Sara Ortega Cubero; Maria A Pastor; Janine Diehl Schmid; Panagiotis Alexopoulos; Luisa Benussi; Roberta Ghidoni; Giuliano Binetti; Benedetta Nacmias; Sandro Sorbi; Raquel Sanchez Valle; Albert Llado; Ellen Gelpi; Maria Rosario Almeida; Isabel Santana; Magda Tsolaki; Maria Koutroumani; Jordi Clarimon; Alberto Lleo; Juan Fortea; Alexandre de Mendonca; Madalena Martins; Barbara Borroni; Alessandro Padovani; Radoslav Matej; Zdenek Rohan; Mathieu Vandenbulcke; Rik Vandenberghe; Peter P De Deyn; Patrick Cras; Julie van der Zee; Kristel Sleegers; Christine Van Broeckhoven; ...More
PUBLISHED: 2015, SOURCE: HUMAN MUTATION, VOLUME: 36, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
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TITLE: Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration  Full Text
AUTHORS: Julie van der Zee; Tim Van Langenhove; Gabor G Kovacs; Lubina Dillen; William Deschamps; Sebastiaan Engelborghs; Radoslav Matej; Mathieu Vandenbulcke; Anne Sieben; Bart Dermaut; Katrien Smets; Philip Van Damme; Celine Merlin; Annelies Laureys; Marleen Van Den Broeck; Maria Mattheijssens; Karin Peeters; Luisa Benussi; Giuliano Binetti; Roberta Ghidoni; Barbara Borroni; Alessandro Padovani; Silvana Archetti; Pau Pastor; Cristina Razquin; Sara Ortega Cubero; Isabel Hernandez; Merce Boada; Agustin Ruiz; Alexandre de Mendonca; Gabriel Miltenberger Miltenyi; Frederico Simoes do Couto; Sandro Sorbi; Benedetta Nacmias; Silvia Bagnoli; Caroline Graff; Huei Hsin Chiang; Hakan Thonberg; Robert Perneczky; Janine Diehl Schmid; Panagiotis Alexopoulos; Giovanni B Frisoni; Christian Bonvicini; Matthis Synofzik; Walter Maetzler; Jennifer Muller vom Hagen; Ludger Schoels; Tobias B Haack; Tim M Strom; Holger Prokisch; Oriol Dols Icardo; Jordi Clarimon; Alberto Lleo; Isabel Santana; Maria Rosario Almeida; Beatriz Santiago; Michael T Heneka; Frank Jessen; Alfredo Ramirez; Raquel Sanchez Valle; Albert Llado; Ellen Gelpi; Stayko Sarafov; Ivailo Tournev; Albena Jordanova; Eva Parobkova; Gian Maria Fabrizi; Silvia Testi; Eric Salmon; Thomas Stroebel; Patrick Santens; Wim Robberecht; Peter De Jonghe; Jean Jacques Martin; Patrick Cras; Rik Vandenberghe; Peter Paul De Deyn; Marc Cruts; Kristel Sleegers; Christine Van Broeckhoven; ...More
PUBLISHED: 2014, SOURCE: ACTA NEUROPATHOLOGICA, VOLUME: 128, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef