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
|
|
3.
|
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
|
|