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6 p, 201.9 KB |
Pharmacogenomic study in patients with multiple sclerosis
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Bustamante, Marta F. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Morcillo-Suarez, Carlos (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Malhotra, Sunny (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rio, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Leyva, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernández, Oscar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Zettl, Uwe K. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Killestein, Joep (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Brassat, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
García-Merino, Juan Antonio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Sánchez, Antonio J. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Urcelay, Elena (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Alvarez-Lafuente, Roberto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Villar, Lusia M. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Alvarez-Cermeño, José C (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Farré, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lechner-Scott, Jeannette (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vandenbroeck, Koen (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rodríguez-Antigüedad, Alfredo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martinelli Boneschi, Filippo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Chan, Andrew (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Oksenberg, Jorge (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Navarro, Arcadi, 1969- (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montalban, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Comabella, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
We aimed to investigate the association between polymorphisms located in type I interferon (IFN)-induced genes, genes belonging to the toll-like receptor (TLR) pathway, and genes encoding neurotransmitter receptors and the response to IFN-β treatment in patients with multiple sclerosis (MS). [...]
2015 -  10.1212/NXI.0000000000000154
Neurology® neuroimmunology & neuroinflammation, Vol. 2 (september 2015)
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23 p, 7.5 MB |
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
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Gómez-Fernández, Paloma (University of the Basque Country) ;
Lopez de Lapuente Portilla, Aitzkoa (Lund University) ;
Astobiza, Ianire (University of the Basque Country) ;
Mena, Jorge (Instituto de Investigación Sanitaria Biocruces Bizkaia) ;
Urtasun, Andoni (University of the Basque Country) ;
Altmann, Vivian (University of Lübeck) ;
Matesanz, Fuencisla (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Otaegui, David (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Urcelay, Elena (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Antigüedad, Alfredo (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Malhotra, Sunny (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montalban, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Castillo-Triviño, Tamara (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Espino-Paisán, Laura (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Aktas, Orhan (Heinrich-Heine University Düsseldorf) ;
Buttmann, Mathias (Caritas Hospital) ;
Chan, Andrew (Bern University Hospital) ;
Fontaine, Bertrand (University Hospital Pitié-Salpêtrière) ;
Gourraud, Pierre-Antoine (CHU de Nantes) ;
Hecker, Michael (University of Rostock) ;
Hoffjan, Sabine (Ruhr-University Bochum) ;
Kubisch, Christian (University Medical Center Hamburg-Eppendorf) ;
Kümpfel, Tania (Ludwig-Maximilians University) ;
Luessi, Felix (University Medical Center of the Johannes Gutenberg University Mainz) ;
Zettl, Uwe K. (University of Rostock) ;
Zipp, Frauke (University Medical Center of the Johannes Gutenberg University Mainz) ;
Alloza, Iraide (Instituto de Investigación Sanitaria Biocruces Bizkaia) ;
Comabella, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lill, Christina M. (Imperial College) ;
Vandenbroeck, Koen (Ikerbasque) ;
Universitat Autònoma de Barcelona
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0. [...]
2020 - 10.3390/cells9010175
Cells, Vol. 9 (january 2020)
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14 p, 1.2 MB |
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
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van der Lee, Sven J. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Conway, Olivia J. (Mayo Clinic Florida. Department of Neuroscience) ;
Jansen, Iris E (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Carrasquillo, Minerva M. (Mayo Clinic Florida. Department of Neuroscience) ;
Kleineidam, Luca (Uniklinik Köln (Colònia, Alemanya)) ;
van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ;
Stringa, Najada (Vrije Universiteit Amsterdam) ;
Chen, Jason A. (University of California. Interdepartmental Program in Bioinformatics) ;
Zettergren, Anna (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Andlauer, Till F. M. (German Competence Network Multiple Sclerosis (KKNMS)) ;
Diez-Fairen, Monica (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Simon-Sanchez, Javier (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Nygaard, Marianne (University of Southern Denmark. The Danish Aging Research Center, Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke. Neurodegenerative Diseases Research Unit) ;
Savage, Jeanne E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Mengel-From, Jonas (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Moreno-Grau, Sonia (Institut Català de Neurociènces Aplicades) ;
Wagner, Michael (DZNE, German Center for Neurodegenerative Diseases) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Keogh, Michael J. (University of Cambridge. Department of Clinical Neurosciences) ;
Blennow, Kaj (Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg. Department of Psychiatry and Neurochemistry) ;
Skoog, Ingmar (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Friese, Manuel A. (Universitätsklinikum Hamburg-Eppendorf. Institut für Neuroimmunologie und Multiple Sklerose (INIMS)) ;
Pletnikova, Olga (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Lage, Carmen (IDIVAL) ;
De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Riedel-Heller, Steffi (University of Leipzig. Institute of Social Medicine, Occupational Health and Public Health (ISAP)) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Wei, Wei (University of Cambridge. Department of Clinical Neurosciences) ;
Jeune, Bernard (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Then Bergh, Florian (University of Leipzig. Department of Neurology) ;
Wang, Xue (Mayo Clinic Florida. Department of Neuroscience) ;
Hulsman, Marc (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Beker, Nina (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Tesi, Niccolo (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Morris, Christopher M. (Newcastle University. Newcastle Brain Tissue Resource, Edwardson Building, Institute of Neuroscience) ;
Indakoetxea, Begoña (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Collij, Lyduine E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Scherer, Martin (Department of Primary Medical Care, Center for Psychosocial Medicine, University Medical Center, Hamburg-Eppendorf, Germany) ;
Morenas-Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ;
Ironside, James W. (University of Edinburgh. Centre for Clinical Brain Sciences) ;
van Berckel, Bart N. M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Wiendl, Heinz (University of Münster. Department of Neurology, Klinik für Neurologie mit Institut für Translationale Neurologie) ;
Strickland, Samantha L. (Mayo Clinic Florida. Department of Neuroscience) ;
Pastor, Pau (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Rodríguez-Rodríguez, Eloy (IDIVAL) ;
Boeve, Bradley (Mayo Clinic Minnesota. Department of Neurology) ;
Petersen, Ronald C. (Mayo Clinic Minnesota. Department of Neurology) ;
Ferman, Tanis J. (Mayo Clinic Florida. Department of Psychiatry and Psychology) ;
van Gerpen, Jay A. (Mayo Clinic Florida. Department of Neurology) ;
Reinders, Marcel J. T. (Delft University of Technology. Delft Bioinformatics Lab) ;
Uitti, Ryan J. (Mayo Clinic Florida. Department of Neurology) ;
Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Kawalia, Amit (Uniklinik Köln (Colònia, Alemanya)) ;
Dalmasso, Maria Carolina (Fundación Instituto Leloir (Buenos Aires, Argentina)) ;
Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Zettl, Uwe K. (University of Rostock. Department of Neurology) ;
van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ;
Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ;
Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ;
Masliah, Eliezer (National Institute on Aging (Estats Units d'Amèrica)) ;
de Munain, Adolfo López (Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ;
Pantelyat, Alexander (Johns Hopkins University Medical Center. Department of Neurology) ;
Wszolek, Zbigniew K. (Mayo Clinic Florida. Department of Neurology) ;
Ross, Owen A. (Mayo Clinic Florida. Department of Neuroscience) ;
Dickson, Dennis W. (Mayo Clinic Florida. Department of Neuroscience) ;
Graff-Radford, Neill R. (Mayo Clinic Florida. Department of Neurology) ;
Knopman, David (Mayo Clinic Minnesota. Department of Neurology) ;
Rademakers, Rosa (Mayo Clinic Florida. Department of Neuroscience) ;
Lemstra, Afina W. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Pijnenburg, Yolande (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Scheltens, Philip (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Gasser, Thomas (University of Tuebingen. Center of Neurology, Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research) ;
Chinnery, Patrick F. (University of Cambridge. MRC Mitochondrial Biology Unit) ;
Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy)) ;
Huisman, Martijn A. (VU University. Department of Sociology) ;
Troncoso, Juan (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Moreno, Fermin (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Nohr, Ellen A. (University of Southern Denmark. Research Unit of Gynecology and Obstetrics, Department of Clinical Research) ;
Sørensen, Thorkild I. A. (Bristol University. MRC Integrative Epidemiology Unit) ;
Heutink, Peter (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Sánchez-Juan, Pascual (IDIVAL) ;
Posthuma, Danielle (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ertekin-Taner, Nilüfer (Mayo Clinic Florida. Department of Neurology) ;
Scholz, Sonja (Johns Hopkins University Medical Center. Department of Neurology) ;
Ramirez, Alfredo (Uniklinik Köln (Colònia, Alemanya)) ;
Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Slagboom, Eline (Dutch Society for Research on Ageing, Leiden, The Netherlands) ;
van der Flier, Wiesje M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Holstege, Henne (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Universitat Autònoma de Barcelona
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseases and possibly associates with longevity. [...]
2019 - 10.1007/s00401-019-02026-8
Acta Neuropathologica, Vol. 138 (may 2019) , p. 237-250
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4 p, 417.7 KB |
Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity
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van der Lee, Sven J. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Conway, Olivia J. (Mayo Clinic Florida. Department of Neuroscience) ;
Jansen, Iris E (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Carrasquillo, Minerva M. (Mayo Clinic Florida. Department of Neuroscience) ;
Kleineidam, Luca (Uniklinik Köln (Colònia, Alemanya)) ;
van den Akker, Erik (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Hernández, Isabel (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
van Eijk, Kristel R. (University Medical Center Utrecht. Department of Neurology, Brain Center Rudolf Magnus) ;
Stringa, Najada (Vrije Universiteit Amsterdam) ;
Chen, Jason A. (University of California. Interdepartmental Program in Bioinformatics) ;
Zettergren, Anna (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Andlauer, Till F. M. (German Competence Network Multiple Sclerosis (KKNMS)) ;
Diez-Fairen, Monica (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Simon-Sanchez, Javier (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit). Department of Molecular Neuroscience) ;
Nygaard, Marianne (University of Southern Denmark. The Danish Aging Research Center, Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke. Neurodegenerative Diseases Research Unit) ;
Savage, Jeanne E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Mengel-From, Jonas (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Moreno-Grau, Sonia (Institut Català de Neurociènces Aplicades) ;
Wagner, Michael (DZNE, German Center for Neurodegenerative Diseases) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Keogh, Michael J. (University of Cambridge. Department of Clinical Neurosciences) ;
Blennow, Kaj (Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg. Department of Psychiatry and Neurochemistry) ;
Skoog, Ingmar (Neuropsychiatric Epidemiology Unit, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg) ;
Friese, Manuel A. (Universitätsklinikum Hamburg-Eppendorf. Institut für Neuroimmunologie und Multiple Sklerose (INIMS)) ;
Pletnikova, Olga (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Lage, Carmen (IDIVAL) ;
De Rojas, Itziar (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Riedel-Heller, Steffi (University of Leipzig. Institute of Social Medicine, Occupational Health and Public Health (ISAP)) ;
Illán-Gala, Ignacio (Institut d'Investigació Biomèdica Sant Pau) ;
Wei, Wei (University of Cambridge. Department of Clinical Neurosciences) ;
Jeune, Bernard (University of Southern Denmark. Epidemiology, Biostatistics and Biodemography, Department of Public Health) ;
Orellana, Adelina (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Then Bergh, Florian (University of Leipzig. Department of Neurology) ;
Wang, Xue (Mayo Clinic Florida. Department of Neuroscience) ;
Hulsman, Marc (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Beker, Nina (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Tesi, Niccolo (Delft University of Technology. Pattern Recognition and Bioinformatics) ;
Morris, Christopher M. (Newcastle University. Newcastle Brain Tissue Resource, Edwardson Building, Institute of Neuroscience) ;
Indakoetxea, Begoña (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Collij, Lyduine E. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Scherer, Martin (Department of Primary Medical Care, Center for Psychosocial Medicine, University Medical Center, Hamburg-Eppendorf, Germany) ;
Morenas-Rodríguez, Estrella (Institut d'Investigació Biomèdica Sant Pau) ;
Ironside, James W. (University of Edinburgh. Centre for Clinical Brain Sciences) ;
van Berckel, Bart N. M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Radiology and Nuclear Medicine, Amsterdam Neuroscience) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Wiendl, Heinz (University of Münster. Department of Neurology, Klinik für Neurologie mit Institut für Translationale Neurologie) ;
Strickland, Samantha L. (Mayo Clinic Florida. Department of Neuroscience) ;
Pastor, Pau (Fundacio per la Recerca Biomedica I Social Mutua Terrassa) ;
Rodríguez-Rodríguez, Eloy (IDIVAL) ;
Boeve, Bradley (Mayo Clinic Minnesota. Department of Neurology) ;
Petersen, Ronald C. (Mayo Clinic Minnesota. Department of Neurology) ;
Ferman, Tanis J. (Mayo Clinic Florida. Department of Psychiatry and Psychology) ;
van Gerpen, Jay A. (Mayo Clinic Florida. Department of Neurology) ;
Reinders, Marcel J. T. (Delft University of Technology. Delft Bioinformatics Lab) ;
Uitti, Ryan J. (Mayo Clinic Florida. Department of Neurology) ;
Tárraga, Lluís (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Maier, Wolfgang (DZNE, German Center for Neurodegenerative Diseases) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Kawalia, Amit (Uniklinik Köln (Colònia, Alemanya)) ;
Dalmasso, Maria Carolina (Fundación Instituto Leloir (Buenos Aires, Argentina)) ;
Boada, Mercè (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Zettl, Uwe K. (University of Rostock. Department of Neurology) ;
van Schoor, Natasja M. (Vrije Universiteit Amsterdam) ;
Beekman, Marian (Leiden University Medical Center. Molecular Epidemiology) ;
Allen, Mariet (Mayo Clinic Florida. Department of Neuroscience) ;
Masliah, Eliezer (National Institute on Aging (Estats Units d'Amèrica)) ;
de Munain, Adolfo López (Department of Neurology, Hospital Universitario San Sebastian, San Sebastian, Spain) ;
Pantelyat, Alexander (Johns Hopkins University Medical Center. Department of Neurology) ;
Wszolek, Zbigniew K. (Mayo Clinic Florida. Department of Neurology) ;
Ross, Owen A. (Mayo Clinic Florida. Department of Neuroscience) ;
Dickson, Dennis W. (Mayo Clinic Florida. Department of Neuroscience) ;
Graff-Radford, Neill R. (Mayo Clinic Florida. Department of Neurology) ;
Knopman, David (Mayo Clinic Minnesota. Department of Neurology) ;
Rademakers, Rosa (Mayo Clinic Florida. Department of Neuroscience) ;
Lemstra, Afina W. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Pijnenburg, Yolande (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Scheltens, Philip (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Gasser, Thomas (University of Tuebingen. Center of Neurology, Department of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research) ;
Chinnery, Patrick F. (University of Cambridge. MRC Mitochondrial Biology Unit) ;
Hemmer, Bernhard (Munich Cluster for Systems Neurology (SyNergy)) ;
Huisman, Martijn A. (VU University. Department of Sociology) ;
Troncoso, Juan (Johns Hopkins University Medical Center. Department of Pathology (Neuropathology)) ;
Moreno, Fermin (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ;
Nohr, Ellen A. (University of Southern Denmark. Research Unit of Gynecology and Obstetrics, Department of Clinical Research) ;
Sørensen, Thorkild I. A. (Bristol University. MRC Integrative Epidemiology Unit) ;
Heutink, Peter (University of Tübingen. Hertie Institute for Clinical Brain Research) ;
Sánchez-Juan, Pascual (IDIVAL) ;
Posthuma, Danielle (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Christensen, Kaare (Odense University Hospital (Dinamarca)) ;
Ertekin-Taner, Nilüfer (Mayo Clinic Florida. Department of Neurology) ;
Scholz, Sonja (Johns Hopkins University Medical Center. Department of Neurology) ;
Ramirez, Alfredo (Uniklinik Köln (Colònia, Alemanya)) ;
Ruiz, Agustín (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Slagboom, Eline (Dutch Society for Research on Ageing, Leiden, The Netherlands) ;
van der Flier, Wiesje M. (Vrije Universiteit Amsterdam, Amsterdam UMC. Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience) ;
Holstege, Henne (Vrije Universiteit Amsterdam, Amsterdam UMC. Department of Clinical Genetics) ;
Universitat Autònoma de Barcelona
2020 - 10.1007/s00401-019-02107-8
Acta Neuropathologica, Vol. 139 (january 2020) , p. 959-962
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7 p, 1018.1 KB |
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients
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Sadovnick, A. Dessa (University of British Columbia) ;
Traboulsee, Anthony L. (University of British Columbia) ;
Bernales, Cecily Q. (University of British Columbia) ;
Ross, Jay P. (University of British Columbia) ;
Forwell, Amanda L. (University of British Columbia) ;
Yee, Irene M. (University of British Columbia) ;
Guillot-Noel, Lena (Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, France) ;
Fontaine, Bertrand (Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, France) ;
Cournu-Rebeix, Isabelle (Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, France) ;
Alcina, Antonio (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Fedetz, Maria (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Izquierdo, Guillermo (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Matesanz, Fuencisla (Instituto de Parasitología y Biomedicina "López-Neyra") ;
Hilven, Kelly (University of Leuven) ;
Dubois, Bénédicte (University Hospitals Leuven (Bèlgica)) ;
Goris, An (University of Leuven) ;
Astobiza, Ianire (Achucarro Basque Center for Neuroscience) ;
Alloza, Iraide (IKERBASQUE, Basque Foundation for Science) ;
Antigüedad, Alfredo (Hospital de Basurto (Bilbao, Biscaia)) ;
Vandenbroeck, Koen (IKERBASQUE, Basque Foundation for Science) ;
Akkad, Denis A. (Ruhr University) ;
Aktas, Orhan (Heinrich Heine University) ;
Blaschke, Paul (University of Rostock) ;
Buttmann, Mathias (University of Würzburg) ;
Chan, Andrew (Bern University Hospital) ;
Epplen, Joerg T. (Ruhr University) ;
Gerdes, Lisa-Ann (Institute for Clinical Neuroimmunology, Ludwig Maximilian University) ;
Kroner, Antje (Medical College of Wisconsin) ;
Kubisch, Christian (University Medical Center Hamburg-Eppendorf) ;
Kümpfel, Tania (Ludwig Maximilian University) ;
Lohse, Peter (Institute of Laboratory Medicine and Human Genetics) ;
Rieckmann, Peter (Sozialstiftung Bamberg Hospital) ;
Zettl, Uwe K. (University of Rostock) ;
Zipp, Frauke (University Medical Center of the Johannes Gutenberg-University Mainz) ;
Bertram, Lars (Imperial College London) ;
Lill, Christina M. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernández, Oscar (Instituto de Investigación Biomédica de Málaga) ;
Urbaneja, Patricia (Instituto de Investigación Biomédica de Málaga) ;
Leyva, Laura (Instituto de Investigación Biomédica de Málaga) ;
Alvarez-Cermeño, José C (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Arroyo, Rafael (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Garagorri, Aroa M. (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
García-Martínez, Angel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Villar, Luisa M. (Hospital Universitario Ramón y Cajal (Madrid)) ;
Urcelay, Elena (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Malhotra, Sunny (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Montalban, Xavier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Comabella, Manuel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Berger, Thomas (Medical University of Innsbruck) ;
Fazekas, Franz (Medical University of Graz) ;
Reindl, Markus (Medical University of Innsbruck) ;
Schmied, Mascha C. (Medical University of Vienna) ;
Zimprich, Alexander (Medical University of Vienna) ;
Vilariño-Güell, Carles (University of British Columbia) ;
Universitat Autònoma de Barcelona
Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p. G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. [...]
2016 - 10.1534/g3.116.030841
G3, Vol. 6 (may 2016) , p. 2073-2079
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