Dipòsit Digital de Documents de la UAB 4 registres trobats  La cerca s'ha fet en 0.00 segons. 
1.
3 p, 377.7 KB No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients / Baradaran-Heravi, Yalda (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Nguyen, Hung Phuoc (University of Antwerp) ; Van Mossevelde, Sara (Antwerp University Hospital (UZA)) ; Baets, Jonathan (VIB-UAntwerp Center for Molecular Neurology) ; De Jonghe, Peter (VIB-UAntwerp Center for Molecular Neurology) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA)) ; De Deyn, Peter Paul (Hospital Network Antwerp (ZNA)) ; Vandenbulcke, Mathieu (University Hospitals Leuven (Bèlgica)) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; Van Damme, Philip (VIB) ; Cras, Patrick (Antwerp University Hospital (UZA)) ; Salmon, Eric (University of Liege and Memory Clinic) ; Synofzik, Matthis (German Center for Neurodegenerative Diseases (DZNE)) ; Heutink, Peter (German Center for Neurodegenerative Diseases (DZNE)) ; Wilke, Carlo (German Center for Neurodegenerative Diseases (DZNE)) ; Simón Sánchez, Javier (German Center for Neurodegenerative Diseases (DZNE)) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Borroni, Barbara (University of Brescia) ; Padovani, Alessandro (University of Brescia) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Aguilar, Miquel Chávez (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ; Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ; Borrego-Écija, Sergi (Hospital Clínic i Provincial de Barcelona) ; Matej, Radoslav (Charles University) ; Parobkova, Eva (Charles University) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (IRCCS Don Gnocchi) ; Bagnoli, Silvia (University of Florence) ; de Mendonça, Alexandre (University of Lisbon) ; Ferreira, Catarina B. (University of Lisbon) ; Fraidakis, Matthew Joseph (NeuroRARE Centre for Rare and Genetic Neurological & Neuromuscular Diseases & Neurogenetics) ; Diehl-Schmid, Janine (Technische Universität München) ; Alexopoulos, Panagiotis (Technische Universität München) ; Almeida, Maria (University of Coimbra) ; Santana, Isabel (University of Coimbra) ; Van Broeckhoven, Christine (University of Antwerp) ; Van der Zee, Julie (University of Antwerp) ; Goeman, Johan (BELNEU Consortium) ; Nuytten, Dirk (BELNEU Consortium) ; Sieben, Anne (BELNEU Consortium) ; De Bleecker, Jan L. (BELNEU Consortium) ; Santens, Patrick (BELNEU Consortium) ; Versijpt, Jan (BELNEU Consortium) ; Michotte, Alex (BELNEU Consortium) ; Ivanoiu, Adrian (BELNEU Consortium) ; Deryck, Olivier (BELNEU Consortium) ; Bergmans, Bruno (BELNEU Consortium) ; Willems, Christiana (BELNEU Consortium) ; De Klippel, Nina (BELNEU Consortium) ; Peeters, Dirk (BELNEU Consortium) ; Archettim, Silvana (EU EOD Consortium) ; Bonomi, Elisa (EU EOD Consortium) ; Piaceri, Irene (EU EOD Consortium) ; Ferrari, Camilla (EU EOD Consortium) ; Simões do Couto, Federico (EU EOD Consortium) ; Verdelho, Ana (EU EOD Consortium) ; Miltenberger-Miltényi, Gabriel (EU EOD Consortium) ; Universitat Autònoma de Barcelona
We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. [...]
2018 - 10.1016/j.neurobiolaging.2018.05.005
Neurobiology of Aging, Vol. 69 (september 2018) , p. 293.e9-293.e11  
2.
7 p, 424.0 KB Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups / Rothwell, Simon (University of Manchester) ; Chinoy, Hector (Salford Royal NHS Foundation Trust) ; Lamb, Janine A. (The University of Manchester) ; Miller, Frederick W. (National Institute of Environmental Health Sciences) ; Rider, Lisa G. (National Institute of Environmental Health Sciences) ; Wedderburn, Lucy R. (University College London) ; McHugh, Neil J. (University of Bath) ; Mammen, Andrew L. (Johns Hopkins University School of Medicine) ; Betteridge, Zoe E. (University of Bath) ; Tansley, Sarah L. (Royal United Hospitals Bath NHS Foundation Trust) ; Bowes, John (The University of Manchester) ; Vencovský, Jiří (Charles University) ; Deakin, Claire T. (University College London) ; Dankó, Katalin (University of Debrecen) ; Vidya, Limaye (Royal Adelaide Hospital) ; Selva-O'Callaghan, Albert (Hospital Universitari Vall d'Hebron) ; Pachman, Lauren M. (Northwestern University, Feinberg School of Medicine) ; Reed, Ann M. (Duke University) ; Molberg, Øyvind (University of Oslo) ; Benveniste, Olivier (Pitié-Salpêtrière University Hospital) ; Mathiesen, Pernille R. (University of Copenhagen) ; Radstake, Timothy R. D. J. (Utrecht Medical Center) ; Doria, Andrea (Division of Rheumatology, University of Padova) ; De Bleecker, Jan (Ghent University) ; Lee, Annette T. (The Feinstein Institute for Medical Research) ; Hanna, M. G (University College London Institute of Neurology) ; Machado, Pedro M. (London North West University Healthcare NHS Trust) ; Ollier, William E. (Manchester Metropolitan University) ; Gregersen, Peter K. (The Feinstein Institute for Medical Research) ; Padyukov, Leonid (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; O'Hanlon, Terrance P. (National Institute of Environmental Health Sciences) ; Cooper, Robert G. (University of Liverpool) ; Lundberg, Ingrid E. (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Universitat Autònoma de Barcelona
Idiopathic inflammatory myopathies (IIM) are a spectrum of rare autoimmune diseases characterised clinically by muscle weakness and heterogeneous systemic organ involvement. The strongest genetic risk is within the major histocompatibility complex (MHC). [...]
2019 - 10.1136/annrheumdis-2019-215046
Annals of the rheumatic diseases, Vol. 78 (may 2019) , p. 996-1002  
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11 p, 286.2 KB Long-term safety and efficacy of eculizumab in generalized myasthenia gravis / Muppidi, Srikanth (Stanford University School of Medicine) ; Utsugisawa, Kimiaki (Hanamaki General Hospital) ; Benatar, Michael (University of Miami Miller School of Medicine) ; Murai, Hiroyuki (International University of Health and Welfare) ; Barohn, Richard J. (University of Kansas Medical Center) ; Illa, Isabel (Hospital Universitari Vall d'Hebron) ; Jacob, Saiju (Birmingham Women's and Children's Hospital (Regne Unit)) ; Vissing, John (University of Copenhagen) ; Burns, Ted M. (University of Virginia Health System) ; Kissel, John T. (The Ohio State University) ; Nowak, Richard J. (Yale University) ; Andersen, Henning (Aarhus University Hospital (Aarhus, Dinamarca)) ; Casasnovas, Carlos (Hospital Universitari de Bellvitge) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Vu, Tuan H. (University of South Florida) ; Mantegazza, Renato (Fondazione IRCCS Istituto Neurologico Carlo Besta (R.M.) (Milà, Itàlia)) ; O'Brien, Fanny L. (Alexion Pharmaceuticals) ; Wang, Jing Jing (Alexion Pharmaceuticals) ; Fujita, Kenji P (Alexion Pharmaceuticals) ; Howard, James F. (University of North Carolina)
Introduction : Eculizumab is effective and well tolerated in patients with antiacetylcholine receptor antibody-positive refractory generalized myasthenia gravis (gMG; REGAIN; NCT01997229). We report an interim analysis of an open-label extension of REGAIN, evaluating eculizumab's long-term safety and efficacy. [...]
2019 - 10.1002/mus.26447
Muscle & nerve, Vol. 60 (march 2019) , p. 14-24  
4.
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 (University Hospital Antwerp (Bèlgica)) ; Perrone, Federica (University of Antwerp) ; Dillen, Lubina (University of Antwerp) ; Heeman, Bavo (University of Antwerp) ; Bäumer, Veerle (University of Antwerp) ; Engelborghs, Sebastiaan (University Hospital Antwerp (Bèlgica)) ; De Bleecker, Jan (Universitair Ziekenhuis Gent) ; Baets, Jonathan (University Hospital Antwerp (Bèlgica)) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas-Garcia, Ricard (Universitat Autònoma de Barcelona) ; Clarimón, 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 and Karolinska Institutet (Suècia)) ; Thonberg, Håkan (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; 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 (Hospital Universitario Fundación Jiménez Díaz) ; Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ; Cras, Patrick (University Hospital Antwerp (Bèlgica)) ; Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ; De Jonghe, Peter (University Hospital Antwerp (Bèlgica)) ; De Deyn, Peter Paul (University Hospital Antwerp (Bèlgica)) ; Sleegers, Kristel (University of Antwerp) ; Cruts, Marc (University of Antwerp) ; Van Broeckhoven, Christine (University of Antwerp) ; Goeman, Johan (University Hospital Antwerp (Bèlgica)) ; Nuytten, Dirk (University Hospital Antwerp (Bèlgica)) ; Smets, Katrien (University Hospital Antwerp (Bèlgica)) ; Robberecht, Wim (University Hospitals Gasthuisberg (Leuven, Bélgica)) ; Damme, Philip Van (University Hospitals Gasthuisberg (Leuven, Bélgica)) ; Bleecker, Jan De (Universitair Ziekenhuis Gent) ; Santens, Patrick (Universitair Ziekenhuis Gent) ; Dermaut, Bart (Universitair Ziekenhuis Gent) ; 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 (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; 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 (Institut Català de Neurociènces Aplicades) ; Boada, Mercè (Institut Català de Neurociènces Aplicades) ; Ruiz Laza, Agustín (Institut Català de Neurociènces 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 (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Llado Plarrumani, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; 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 (Charles University. Faculty of Medicine in Hradec Králové) ; 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) ; Universitat Autònoma de Barcelona
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  

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