Resultats globals: 8 registres trobats en 0.01 segons.
Articles, 8 registres trobats
Articles 8 registres trobats  
1.
20 p, 3.2 MB Clinical and immunological control of experimental autoimmune encephalomyelitis by tolerogenic dendritic cells loaded with MOG-encoding mRNA / Derdelinckx, Judith (Antwerp University Hospital. Division of Neurology) ; Mansilla Lopez, Maria Jose (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; De Laere, Maxime (University of Antwerp. Laboratory of Experimental Hematology) ; Lee, Wai-Ping (Antwerp University Hospital. Center for Cell Therapy and Regenerative Medicine) ; Navarro-Barriuso, Juan (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Wens, Inez (University of Antwerp. Laboratory of Experimental Hematology) ; Nkansah, Irene (University of Antwerp. Laboratory of Experimental Hematology) ; Daans, Jasmijn (University of Antwerp. Laboratory of Experimental Hematology) ; De Reu, Hans (University of Antwerp. Laboratory of Experimental Hematology) ; Jolanta Keliris, Aneta (University of Antwerp. Bio-Imaging Lab) ; Van Audekerke, Johan (University of Antwerp. Bio-Imaging Lab) ; Vanreusel, Verdi (University of Antwerp. Bio-Imaging Lab) ; Pieters, Zoë (University of Antwerp. Laboratory of Experimental Hematology) ; Van Der Linden, Annemie (University of Antwerp. Bio-Imaging Lab) ; Verhoye, Maraleen (University of Antwerp. Bio-Imaging Lab) ; Molenberghs, Geert (L-BioStat. I-BioStat. KU Leuven) ; Hens, Niel (University of Antwerp. Centre for Health Economics Research and Modelling Infectious Diseases) ; Goossens, Herman (University of Antwerp. Laboratory of Medical Microbiology) ; Willekens, Barbara (Antwerp University Hospital. Division of Neurology) ; Cras, Patrick (University of Antwerp. Born Bunge Institute) ; Ponsaerts, Peter (University of Antwerp. Laboratory of Experimental Hematology) ; Berneman, Zwi N. (Antwerp University Hospital. Center for Cell Therapy and Regenerative Medicine) ; Martínez Cáceres, Eva María (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Cools, Nathalie (Antwerp University Hospital. Center for Cell Therapy and Regenerative Medicine)
Background: Although effective in reducing relapse rate and delaying progression, current therapies for multiple sclerosis (MS) do not completely halt disease progression. T cell autoimmunity to myelin antigens is considered one of the main mechanisms driving MS. [...]
2019 - 10.1186/s12974-019-1541-1
Journal of neuroinflammation, Vol. 16 (August 2019) , art. 167  
2.
11 p, 861.1 KB Tolerogenic dendritic cell-based treatment for multiple sclerosis (MS) : A harmonised study protocol for two phase i clinical trials comparing intradermal and intranodal cell administration / Willekens, Barbara (University of Antwerp. Laboratory of Experimental Hematology. Vaccine and Infectious Disease Institute) ; Presas-Rodríguez, Silvia (Universitat Autònoma de Barcelona. Departament de Medicina) ; Mansilla, M.J. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Derdelinckx, Judith (University of Antwerp. Laboratory of Experimental Hematology. Vaccine and Infectious Disease Institute) ; Lee, Wai-Ping (University Hospital Antwerp. Center for Cell Therapy and Regenerative Medicine.) ; Nijs, Griet (University Hospital Antwerp. Center for Cell Therapy and Regenerative Medicine) ; De Laere, Maxime (University of Antwerp. Laboratory of Experimental Hematology. Vaccine and Infectious Disease Institute) ; Wens, Inez (University of Antwerp . Laboratory of Experimental Hematology. Vaccine and Infectious Disease Institute) ; Cras, Patrick (Department of Neurology. University Hospital Antwerp) ; Parizel, Paul (University Hospital Antwerp. Department of Radiology) ; Van Hecke, Wim (Icometrix NV) ; Ribbens, Annemie (Icometrix NV) ; Billiet, Thibo (Icometrix NV) ; Adams, Geert (C-Clear Partners) ; Couttenye, Marie-Madeleine (University Hospital Antwerp. Department of Nephrology) ; Navarro-Barriuso, Juan (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Teniente Serra, Aina (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Quirant-Sánchez, Bibiana (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Lopez-Diaz De Cerio, Ascensión (Clinica Universidad de Navarra. Immunology and Immunotherapy Department) ; Inogés, Susana (Clinica Universidad de Navarra. Immunology and Immunotherapy Department) ; Prosper, Felipe (Clínica Universidad de Navarra. Centro de Investigación Médica Aplicada) ; Kip, Anke (Lygature Utrecht) ; Verheij, Herman (Lygature Utrecht) ; Gross, Catharina C. (University of Munster. Department of Neurology) ; Wiendl, Heinz (University of Munster. Department of Neurology) ; Van Ham, Marieke (University of Amsterdam. Landsteiner Laboratory. Academic Medical Centre) ; Ten Brinke, Anja (University of Amsterdam. Landsteiner Laboratory. Academic Medical Centre) ; Barriocanal, Ana Maria (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Massuet-Vilamajó, Anna (Institut Germans Trias i Pujol) ; Hens, Niel (University of Antwerp. Centre for Health Economic Research and Modelling Infectious Diseases) ; Berneman, Zwi (University of Antwerp. Center for Cell Therapy and Regenerative Medicine) ; Martínez-Cáceres, Eva (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Cools, Nathalie (University Hospital Antwerp. Center for Cell Therapy and Regenerative Medicine) ; Ramo-Tello, Cristina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Introduction Based on the advances in the treatment of multiple sclerosis (MS), currently available disease-modifying treatments (DMT) have positively influenced the disease course of MS. However, the efficacy of DMT is highly variable and increasing treatment efficacy comes with a more severe risk profile. [...]
2019 - 10.1136/bmjopen-2019-030309
BMJ open, Vol. 9, Issue 9 (July 2019) , art. e030309  
3.
13 p, 1.2 MB Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease / De Roeck, Arne (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van den Bossche, Tobi (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; van der Zee, Julie (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Verheijen, Jan (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; De Coster, Wouter (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Van Dongen, Jasper (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Dillen, Lubina (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Baradaran-Heravi, Yalda (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Heeman, Bavo (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ; Lladó, Albert (Hospital Clínic i Provincial de Barcelona) ; Nacmias, Benedetta (University of Florence) ; Sorbi, Sandro (University of Florence) ; Gelpi, Ellen (Hospital Clínic i Provincial de Barcelona) ; Grau-Rivera, Oriol (Hospital Clínic i Provincial de Barcelona) ; Gómez-Tortosa, Estrella (Hospital Universitario Fundación Jiménez Díaz) ; Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ; Ortega-Cubero, Sara (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Pastor, Maria A. (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Graff, Caroline (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Thonberg, Håkan (Karolinska Institutet (Estocolm, Suècia). Center for Alzheimer Research) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy) ; de Mendonça, Alexandre (University of Lisbon, Portugal) ; Martins, Madalena (University of Lisbon, Portugal) ; Borroni, Barbara (Centre for Neurodegenerative Disorders, University of Brescia, Italy.) ; Padovani, Alessandro (Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy) ; Almeida, Maria Rosário (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Santana, Isabel (Center for Neuroscience and Cell Biology, University of Coimbra, Portugal) ; Diehl-Schmid, Janine (Technische Universität München, Germany) ; Alexopoulos, Panagiotis (Technische Universität München, Germany) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Fortea, Juan (Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas) ; Tsolaki, Magda (Aristotle University of Thessaloniki) ; Koutroumani, Maria (Aristotle University of Thessaloniki) ; Matej, Radoslav (Charles University, Prague, Czech Republic) ; Rohan, Zdenek (Charles University, Prague, Czech Republic) ; De Deyn, Peter (Institute Born-Bunge, University of Antwerp, Belgium) ; Engelborghs, Sebastiaan (Institute Born-Bunge, University of Antwerp, Belgium) ; Cras, Patrick (Institute Born-Bunge, University of Antwerp, Belgium) ; Van Broeckhoven, Christine (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Sleegers, Kristel (VIB Center for Molecular Neurology, VIB, Antwerp, Belgium) ; Universitat Autònoma de Barcelona
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). [...]
2017 - 10.1007/s00401-017-1714-x
Acta Neuropathologica, Vol. 134 (april 2017) , p. 475-487  
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 (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 (Universitair Ziekenhuis Gent) ; Baets, Jonathan (Antwerp University Hospital) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Rojas García, Ricardo (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) ; 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 (Hospital Universitario 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 (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 (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 (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) ; Lladó, 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 (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) ; 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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26 p, 566.7 KB European Society for Swallowing Disorders - European Union Geriatric Medicine Society white paper : oropharyngeal dysphagia as a geriatric syndrome / Baijens, Laura WJ (Department of Otorhinolaryngology. Head and Neck Surgery, Maastricht University Medical Center) ; Clavé, Pere (Hospital de Mataró) ; Cras, Patrick (Department of Neurology. Antwerp University Hospital) ; Ekberg, Olle (Department of Translational Medicine, Division of Medical Radiology, Skåne University Hospital, Malmö, Sweden) ; Forster, Alexandre (Clinique Bois-Bougy, Nyon, Switzerland) ; Kolb, Gerald F (Department of Geriatrics and Physical Medicine, Bonifatius Hospital, Lingen, Germany) ; Leners, Jean-Claude (Long Term Care and Hospice, Ettelbruck, Luxembourg) ; Masiero, Stefano (Rehabilitation Unit, Department of Neuroscience, Università di Padova) ; Mateos-Nozal, Jesús (Hospital Universitario Ramón y Cajal (Madrid)) ; Ortega, Omar (Hospital de Mataró) ; Smithard, David G (King's College Hospital NHS Foundation Trust) ; Speyer, Renée (College of Healthcare Sciences, James Cook University, Townsville, QLD, Australia) ; Walshe, Margaret (Department of Clinical Speech and Language Studies, Trinity College Dublin, Dublin, Ireland) ; Universitat Autònoma de Barcelona
This position document has been developed by the Dysphagia Working Group, a committee of members from the European Society for Swallowing Disorders and the European Union Geriatric Medicine Society, and invited experts. [...]
2016 - 10.2147/CIA.S107750
Clinical Interventions in Aging, Vol. 11 (october 2016) , p. 1403-1428  
6.
16 p, 1.7 MB Immunomodulatory Effects of 1,25-Dihydroxyvitamin D on Dendritic Cells Promote Induction of T Cell Hyporesponsiveness to Myelin-Derived Antigens / Lee, Wai-Ping (Laboratory of Experimental Hematology, Vaccine & Infectious Disease Institute (VAXINFECTIO), Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium) ; Willekens, Barbara (Department of Neurology, Antwerp University Hospital, 2650 Edegem, Belgium) ; Cras, Patrick (Department of Neurology, Born Bunge Institute, Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium) ; Goossens, Herman (Laboratory of Medical Microbiology, Vaccine & Infectious Disease Institute (VAXINFECTIO), Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium) ; Martínez-Cáceres, Eva (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Berneman, Zwi N. (Center for Cell Therapy and Regenerative Medicine, Antwerp University Hospital, 2650 Edegem, Belgium) ; Cools, Nathalie (Laboratory of Experimental Hematology, Vaccine & Infectious Disease Institute (VAXINFECTIO), Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium)
While emerging evidence indicates that dendritic cells (DC) play a central role in the pathogenesis of multiple sclerosis (MS), their modulation with immunoregulatory agents provides prospect as disease-modifying therapy. [...]
2016 - 10.1155/2016/5392623
Journal of Immunology Research, Vol. 2016 (september 2016)  
7.
12 p, 849.5 KB A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease / Verheijen, Jan (University of Antwerp. Institute Born-Bunge) ; Van den Bossche, Tobi (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; van der Zee, Julie (University of Antwerp. Institute Born-Bunge) ; Engelborghs, Sebastiaan (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; Sánchez Valle, Raquel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Graff, Caroline (Karolinska University Hospital (Estocolm, Suècia)) ; Thonberg, Håkan (Karolinska University Hospital (Estocolm, Suècia)) ; Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Ortega-Cubero, Sara (Complejo Asistencial Universitario de Palencia. Departamento de Neurología) ; Pastor, Maria A. (Clínica Universidad de Navarra. Departamento de Neurología) ; Benussi, Luisa (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Ghidoni, Roberta (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Binetti, Giuliano (Istituto Centro San Giovanni di Dio-Fatebenefratelli (Brescia, Itàlia)) ; Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lleó Bisa, Alberto (Institut d'Investigació Biomèdica Sant Pau) ; Fortea Ormaechea, Juan (Institut d'Investigació Biomèdica Sant Pau) ; de Mendonça, Alexandre (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ; Martins, Madalena (University of Lisbon. Faculty of Medicine and Institute of Molecular Medicine) ; Grau-Rivera, Oriol (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Bettens, Karolien (University of Antwerp. Institute Born-Bunge) ; Mateiu, Ligia (University of Antwerp. VIB) ; Dillen, Lubina (University of Antwerp. Institute Born-Bunge) ; Cras, Patrick (Department of Neurology, Antwerp University Hospital, Edegem, Belgium) ; De Deyn, Peter P. (Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken) ; Van Broeckhoven, Christine (University of Antwerp. Institute Born-Bunge) ; Sleegers, Kristel (University of Antwerp. Institute Born-Bunge) ; Universitat Autònoma de Barcelona
The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer's disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). [...]
2016 - 10.1007/s00401-016-1566-9
Acta Neuropathologica, Vol. 132 (march 2016) , p. 213-224  
8.
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 Biomèdiques August Pi i Sunyer) ; Lladó, Albert (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gelpi, Ellen (Institut d'Investigacions Biomèdiques 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) ; Clarimón, Jordi (Universitat Autònoma de Barcelona) ; Lleó Bisa, Alberto (Universitat Autònoma de Barcelona) ; Fortea, Juan (Universitat Autònoma de Barcelona) ; 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  

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