UAB Digital Repository of Documents 4 records found  Search took 0.01 seconds. 
1.
13 p, 955.5 KB TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis / van der Zee, Julie (University of Antwerp) ; Gijselinck, Ilse (University of Antwerp) ; Van Mossevelde, Sara (Antwerp University Hospital) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; De Bleecker, Jan (University Hospital Ghent and University of Ghent) ; Baets, Jonathan (Antwerp University Hospital) ; Gelpi, Ellen (Neurological Tissue Bank of the Biobanc ‐ Hospital Clinic‐Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS)) ; Rojas García, Ricardo (Universitat Autònoma de Barcelona) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Diehl‐Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Perneczky, Robert (West London Mental Health Trust) ; Synofzik, Matthis (German Research Center for Neurodegenerative Diseases (DZNE)) ; Just, Jennifer (German Research Center for Neurodegenerative Diseases (DZNE)) ; Schöls, Ludger (German Research Center for Neurodegenerative Diseases (DZNE)) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Jordanova, Albena (Medical University‐Sofia) ; Sarafov, Stayko (Medical University‐Sofia) ; Tournev, Ivailo (New Bulgarian University) ; de Mendonça, Alexandre (University of Lisbon) ; Miltenberger‐Miltényi, Gabriel (University of Lisbon) ; Simões do Couto, Frederico (University of Lisbon) ; Ramirez, Alfredo (University of Cologne) ; Jessen, Frank (German Center for Neurodegenerative Diseases (DZNE)) ; Heneka, Michael T. (University of Bonn) ; Gómez‐Tortosa, Estrella (Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (Antwerp University Hospital) ; Vandenberghe, Rik (University Hospitals Leuven) ; De Jonghe, Peter (Antwerp University Hospital) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (Hospital Network Antwerp) ; Nuytten, Dirk (Hospital Network Antwerp) ; Smets, Katrien (Antwerp University Hospital) ; Robberecht, Wim (University Hospitals Leuven Gasthuisberg) ; Damme, Philip Van (University Hospitals Leuven Gasthuisberg) ; Bleecker, Jan De (University Hospital Ghent) ; Santens, Patrick (University Hospital Ghent) ; Dermaut, Bart (University Hospital Ghent) ; Versijpt, Jan (University Hospital Brussels) ; Michotte, Alex (University Hospital Brussels) ; Ivanoiu, Adrian (Saint‐Luc University Hospital) ; Deryck, Olivier (General Hospital Sint‐Jan Brugge) ; Bergmans, Bruno (General Hospital Sint‐Jan Brugge) ; Delbeck, Jean (General Hospital Sint‐Maria) ; Bruyland, Marc (General Hospital Glorieux Ronse) ; Willems, Christiana (Jessa Hospital) ; Salmon, Eric (University of Liège and Memory Clinic) ; Pastor, Pau (CIBERNED Instituto de Salud Carlos III) ; Ortega‐Cubero, Sara (Deparment of Neurology, Complejo Asistencial Universitario de Palencia) ; Benussi, Luisa (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Ghidoni, Roberta (Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Binetti, Giuliano (MAC Memory Center and Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ; Hernández, Isabel (Fundació ACE, Institut Català de Neurociències Aplicades) ; Boada Rovira, Mercè (Fundació ACE, Institut Català de Neurociències Aplicades) ; Ruiz Laza, Agustín (Fundació ACE, Institut Català de Neurociències Aplicades) ; Sorbi, Sandro (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Nacmias, Benedetta (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Bagnoli, Silvia (Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence) ; Sorbi, Sandro (IRCCS Don Carlo Gnocchi Scandicci) ; Sánchez Valle, Raquel (Hospital Clínic, IDIBAPS) ; Lladó, Albert (Hospital Clínic, IDIBAPS) ; Santana, Isabel (University of Coimbra) ; Rosário Almeida, Maria (University of Coimbra) ; Frisoni, Giovanni B (Hôpitaux Universitaires de Genève et Université de Genève, Genève, Switzerland and IRCCS Fatebenefratelli) ; Maetzler, Walter (Hertie Institute for Clinical Brain Research) ; Matej, Radoslav (Thomayer Hospital, Prague and Charles University) ; Fraidakis, Matthew J. (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Kovacs, Gabor G. (Medical University of Vienna) ; Fabrizi, Gian Maria (University of Verona) ; Testi, Silvia (University of Verona)
We investigated the mutation spectrum of the TANK‐Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), or FTD plus ALS, ascertained within the European Early‐Onset Dementia Consortium. [...]
2017 - 10.1002/humu.23161
Human Mutation, Vol. 38, Issue 3 (March 2017) , p. 297-309  
2.
9 p, 1.2 MB From Wet‐Lab to Variations : Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing / Laurie, Steve (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica) ; Fernandez‐Callejo, Marcos (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica) ; Marco‐Sola, Santiago (Universitat Pompeu Fabra) ; Trotta, Jean‐Remi (Universitat Pompeu Fabra) ; Camps, Jordi (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica) ; Chacón, Alejandro (Universitat Autònoma de Barcelona) ; Espinosa, Antonio (Universitat Autònoma de Barcelona) ; Gut, Marta (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica) ; Gut, Ivo (Universitat Pompeu Fabra) ; Heath, Simon (Universitat Pompeu Fabra) ; Beltran, Sergi (Barcelona Institute of Science and Technology. Centre de Regulació Genòmica)
As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next‐generation sequencing as standard practice in research and diagnostics. However, computing cost–performance ratio is not advancing at an equivalent rate. [...]
2016 - 10.1002/humu.23114
Human Mutation, Vol. 37, Issue 12 (December 2016) , p. 1263-1271  
3.
10 p, 498.4 KB Rare Variants in PLD3 Do Not Affect Risk for Early‐Onset Alzheimer Disease in a European Consortium Cohort / Cacace, Rita (University of Antwerp) ; Van den Bossche, Tobi (Antwerp University Hospital) ; Engelborghs, Sebastiaan (Hospital Network Antwerp () ; Geerts, Nathalie (University of Antwerp) ; Laureys, Annelies (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Graff, Caroline (Karolinska University Hospital) ; Thonberg, Håkan (Karolinska University Hospital) ; Chiang, Huei‐Hsin (Karolinska University Hospital) ; Pastor, Pau (Instituto de Salud Carlos III) ; Ortega‐Cubero, Sara (Instituto de Salud Carlos III) ; Pastor, Maria A. (Universidad de Navarra. Facultad de Medicina) ; Diehl‐Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio‐Fatebenefratelli) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio‐Fatebenefratelli) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio‐Fatebenefratelli) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Sanchez‐Valle, Raquel (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomediques August Pi i Sunyer) ; Almeida, Maria Rosário (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Clarimon, Jordi (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona. Departament de Neurologia) ; Fortea, Juan (Universitat Autònoma de Barcelona. Departament de Neurologia) ; de Mendonça, Alexandre (University of Lisbon) ; Martins, Madalena (University of Lisbon) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Matej, Radoslav (Thomayer Hospital) ; Rohan, Zdenek (Third Medical Faculty of Charles University in Prague) ; Vandenbulcke, Mathieu (University of Leuven) ; Vandenberghe, Rik (University Hospitals Leuven) ; De Deyn, Peter P. (Hospital Network Antwerp) ; Cras, Patrick (Antwerp University Hospital) ; van der Zee, Julie (University of Antwerp) ; Sleegers, Kristel (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late‐onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole‐genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. [...]
2015 - 10.1002/humu.22908
Human Mutation, Vol. 36 (october 2015) , p. 1226-1235  
4.
13 p, 1.5 MB Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles / Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Fernández, Victoria (Centro Nacional de Investigaciones Oncológicas) ; Barroso, Alicia (Centro Nacional de Investigaciones Oncológicas) ; De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caldés, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Lasa, Adriana (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya). Servei de Genètica) ; Ramón y Cajal, Teresa (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya). Servei d'Oncologia) ; Santamariña, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Quiles, Francisco (Institut Català d'Oncologia) ; Lázaro, Conxi (Institut Català d'Oncologia) ; Díez, Orland (Vall d'Hebron Institut d'Oncologia) ; Fernández, Daniel (Instituto de Biología Molecular y Celular del Cancer) ; González-Sarmiento, Rogelio (Instituto de Biología Molecular y Celular del Cancer) ; Durán, Mercedes (Universidad de Valladolid. Instituto de Biología y Genética Molecular) ; Fernández Piqueras, José (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Marín, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Benítez, Javier (Centro de Investigación biomédica en red de enfermedades raras)
Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11 coding exons and exon-intron boundaries of ERCC4 in 1573 index cases from high-risk Spanish familial breast and ovarian cancer pedigrees that had been tested negative for BRCA1 and BRCA2 mutations and 854 controls. [...]
2013 - 10.1002/humu.22438
Human mutation, Vol. 34, issue 12 (Dec. 2013) , p.1615-8  

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