High-Resolution Studies of Proteins in Natural Membranes by Solid-State NMR.

Autor: Beriashvili D; NMR Spectroscopy, Bijvoet Centre for Biomolecular Research, Department of Chemistry, Faculty of Science, Utrecht University., Schellevis RD; NMR Spectroscopy, Bijvoet Centre for Biomolecular Research, Department of Chemistry, Faculty of Science, Utrecht University., Napoli F; NMR Spectroscopy, Bijvoet Centre for Biomolecular Research, Department of Chemistry, Faculty of Science, Utrecht University., Weingarth M; NMR Spectroscopy, Bijvoet Centre for Biomolecular Research, Department of Chemistry, Faculty of Science, Utrecht University; m.weingarth@uu.nl., Baldus M; NMR Spectroscopy, Bijvoet Centre for Biomolecular Research, Department of Chemistry, Faculty of Science, Utrecht University; m.baldus@uu.nl.

Publikováno v: Journal of visualized experiments : JoVE [J Vis Exp] 2021 Mar 03 (169). Date of Electronic Publication: 2021 Mar 03.

Detection of long repeat expansions from PCR-free whole-genome sequence data.

Autor: Dolzhenko E; Illumina Incorporated, San Diego, California 92122, USA., van Vugt JJFA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands., Shaw RJ; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom.; Repositive Limited, Future Business Centre, Cambridge CB4 2HY, United Kingdom., Bekritsky MA; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom., van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA., Narzisi G; New York Genome Center, New York, New York 10013, USA., Ajay SS; Illumina Incorporated, San Diego, California 92122, USA., Rajan V; Illumina Incorporated, San Diego, California 92122, USA., Lajoie BR; Illumina Incorporated, San Diego, California 92122, USA., Johnson NH; Illumina Incorporated, San Diego, California 92122, USA., Kingsbury Z; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom., Humphray SJ; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom., Schellevis RD; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands., Brands WJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands., Baker M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA., Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA., Kooyman M; SURFsara, 1098 XG Amsterdam, The Netherlands., Tazelaar GHP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands., van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands., McLaughlin R; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin 2, Republic of Ireland.; Department of Neurology, Beaumont Hospital, Dublin 9, Republic of Ireland., Sproviero W; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Shatunov A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Jones A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Al Khleifat A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Pittman A; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom., Morgan S; Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom., Hardiman O; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin 2, Republic of Ireland.; Department of Neurology, Beaumont Hospital, Dublin 9, Republic of Ireland., Al-Chalabi A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Shaw C; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Smith B; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Neo EJ; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London SE5 9RX, United Kingdom., Morrison K; University of Southampton, Southampton SO17 1BJ, United Kingdom., Shaw PJ; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, United Kingdom., Reeves C; New York Genome Center, New York, New York 10013, USA., Winterkorn L; New York Genome Center, New York, New York 10013, USA., Wexler NS; Columbia University, New York, New York 10032, USA.; Hereditary Disease Foundation, New York, New York 10032, USA., Housman DE; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA., Ng CW; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA., Li AL; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA., Taft RJ; Illumina Incorporated, San Diego, California 92122, USA., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands., Bentley DR; Illumina Limited, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex, CB10 1XL, United Kingdom., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands., Eberle MA; Illumina Incorporated, San Diego, California 92122, USA.

Publikováno v: Genome research [Genome Res] 2017 Nov; Vol. 27 (11), pp. 1895-1903. Date of Electronic Publication: 2017 Sep 08.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Autor: van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Dekker AM; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., McLaughlin RL; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Diekstra FP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Pulit SL; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., van der Spek RA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Võsa U; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., de Jong S; MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Robinson MR; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia., Yang J; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia., Fogh I; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK.; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., van Doormaal PT; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Tazelaar GH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Koppers M; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.; Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Blokhuis AM; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.; Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Sproviero W; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Jones AR; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., van Eijk KR; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Harschnitz O; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.; Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Schellevis RD; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Brands WJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Medic J; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Menelaou A; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands., Vajda A; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Tranplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Lin K; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Rogelj B; Department of Biotechnology, Jožef Stefan Institute, Ljubljana, Slovenia.; Biomedical Research Institute BRIS, Ljubljana, Slovenia., Vrabec K; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Ravnik-Glavač M; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Koritnik B; Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Zidar J; Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Leonardis L; Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Grošelj LD; Ljubljana ALS Centre, Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia., Millecamps S; Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Paris, France., Salachas F; Institut du Cerveau et de la Moelle Epinière, INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Université Paris 06, UMRS 1127, Paris, France.; Centre de Référence Maladies Rares SLA Ile de France, Département de Neurologie, Hôpital de la Pitié-Salpêtrière, Paris, France.; GRC-UPMC SLA et Maladies du Motoneurone, Paris, France., Meininger V; Ramsay Generale de Santé, Hôpital Peupliers, Paris, France.; Réseau SLA Ile de France, Paris, France., de Carvalho M; Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal., Pinto S; Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal., Mora JS; Department of Neurology, Hospital San Rafael, Madrid, Spain., Rojas-García R; Neurology Department, Hospital de la Santa Creu i Sant Pau de Barcelona, Autonomous University of Barcelona, Barcelona, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Polak M; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.; Emory ALS Center, Emory University School of Medicine, Atlanta, Georgia, USA., Chandran S; Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK.; Centre for Neuroregeneration and Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK., Colville S; Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK., Swingler R; Euan MacDonald Centre for Motor Neuron Disease Research, Edinburgh, UK., Morrison KE; Faculty of Medicine, University of Southampton, Southampton, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Hardy J; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK., Orrell RW; Department of Clinical Neuroscience, Institute of Neurology, University College London, London, UK., Pittman A; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.; Reta Lila Weston Institute, Institute of Neurology, University College London, London, UK., Sidle K; Department of Clinical Neuroscience, Institute of Neurology, University College London, London, UK., Fratta P; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK., Malaspina A; Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, London, UK.; North-East London and Essex Regional Motor Neuron Disease Care Centre, London, UK., Topp S; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Petri S; Department of Neurology, Hannover Medical School, Hannover, Germany., Abdulla S; Department of Neurology, Otto von Güricke University Magdeburg, Magdeburg, Germany., Drepper C; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany., Sendtner M; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany., Meyer T; Department of Neurology, Charité University Hospital, Humboldt University, Berlin, Germany., Ophoff RA; Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.; Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA., Staats KA; Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA., Wiedau-Pazos M; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA., Lomen-Hoerth C; Department of Neurology, University of California, San Francisco, San Francisco, California, USA., Van Deerlin VM; Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Trojanowski JQ; Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Elman L; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., McCluskey L; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Basak AN; Neurodegeneration Research Laboratory, Bo[gcaron]aziçi University, Istanbul, Turkey., Tunca C; Neurodegeneration Research Laboratory, Bo[gcaron]aziçi University, Istanbul, Turkey., Hamzeiy H; Neurodegeneration Research Laboratory, Bo[gcaron]aziçi University, Istanbul, Turkey., Parman Y; Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey., Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Lichtner P; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Radivojkov-Blagojevic M; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Andres CR; INSERM U930, Université François Rabelais, Tours, France., Maurel C; INSERM U930, Université François Rabelais, Tours, France., Bensimon G; AP-HP, Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, Paris, France.; UPMC, Pharmacologie, Paris VI, Paris, France.; BESPIM, CHU de Nîmes, Nîmes, France., Landwehrmeyer B; Department of Neurology, Ulm University, Ulm, Germany., Brice A; INSERM U1127, Hôpital de la Pitié-Salpêtrière, Paris, France.; CNRS UMR 7225, Hôpital de la Pitié-Salpêtrière, Paris, France.; Sorbonne Universités, UPMC Paris 06, UMRS 1127, Hôpital de la Pitié-Salpêtrière, Paris, France.; Institut du Cerveau et de la Moelle Epinière, Hôpital de la Pitié-Salpêtrière, Paris, France.; AP-HP, Département de Génétique, Hôpital de la Pitié-Salpêtrière, Paris, France., Payan CA; AP-HP, Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpêtrière, Paris, France.; BESPIM, CHU de Nîmes, Nîmes, France., Saker-Delye S; Genethon, CNRS UMR 8587, Evry, France., Dürr A; Department of Medical Genetics, Institut du Cerveau et de la Moelle Epinière, Hôptial Pitié-Salpêtrière, Paris, France., Wood NW; Department of Neurogenetics, Institute of Neurology, University College London, London, UK., Tittmann L; PopGen Biobank and Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany., Lieb W; PopGen Biobank and Institute of Epidemiology, Christian Albrechts University Kiel, Kiel, Germany., Franke A; Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany., Rietschel M; Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Faculty of Medicine Mannheim, University of Heidelberg, Heidelberg, Germany., Cichon S; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life and Brain Center, Bonn, Germany.; Division of Medical Genetics, University Hospital Basel, University of Basel, Basel, Switzerland.; Department of Biomedicine, University of Basel, Basel, Switzerland.; Institute of Neuroscience and Medicine INM-1, Research Center Juelich, Juelich, Germany., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life and Brain Center, Bonn, Germany., Amouyel P; University of Lille, INSERM, CHU de Lille, Institut Pasteur de Lille, U1167-RID-AGE Risk Factor and Molecular Determinants of Aging Diseases, Lille, France., Tzourio C; Bordeaux University, ISPED, Centre INSERM U1219-Epidemiologie Biostatistique et CIC-1401, CHU de Bordeaux, Pôle de Santé Publique, Bordeaux, France., Dartigues JF; Bordeaux University, ISPED, Centre INSERM U1219-Epidemiologie Biostatistique et CIC-1401, CHU de Bordeaux, Pôle de Santé Publique, Bordeaux, France., Uitterlinden AG; Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., Rivadeneira F; Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., Estrada K; Department of Internal Medicine, Genetics Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., Hofman A; Department of Epidemiology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA., Curtis C; MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Blauw HM; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., van der Kooi AJ; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., de Visser M; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Goris A; Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven-University of Leuven, Leuven, Belgium., Weber M; Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Pansarasa O; Laboratory of Experimental Neurobiology, IRCCS 'C. Mondino' National Institute of Neurology Foundation, Pavia, Italy., Cereda C; Laboratory of Experimental Neurobiology, IRCCS 'C. Mondino' National Institute of Neurology Foundation, Pavia, Italy., Del Bo R; Neurologic Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Comi GP; Neurologic Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., D'Alfonso S; Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Università del Piemonte Orientale, Novara, Italy., Bertolin C; Department of Neurosciences, University of Padova, Padova, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., Mazzini L; Department of Neurology, Università del Piemonte Orientale, Novara, Italy., Pensato V; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Tiloca C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Ratti A; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Tranplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy., Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy., Brunetti M; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy., Arcuti S; Department of Clinical Research in Neurology, University of Bari 'A. Moro' at Pia Fondazione 'Card. G. Panico', Tricase, Italy., Capozzo R; Department of Clinical Research in Neurology, University of Bari 'A. Moro' at Pia Fondazione 'Card. G. Panico', Tricase, Italy., Zecca C; Department of Clinical Research in Neurology, University of Bari 'A. Moro' at Pia Fondazione 'Card. G. Panico', Tricase, Italy., Lunetta C; NEMO Clinical Center, Serena Onlus Foundation, Niguarda Ca' Granda Hostipal, Milan, Italy., Penco S; Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy., Riva N; Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy., Padovani A; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Filosto M; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Muller B; Project MinE Foundation, Rotterdam, the Netherlands., Stuit RJ; Project MinE Foundation, Rotterdam, the Netherlands., Blair I; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia., Zhang K; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia., McCann EP; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia., Fifita JA; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia., Nicholson GA; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.; University of Sydney, ANZAC Research Institute, Concord Hospital, Sydney, New South Wales, Australia., Rowe DB; Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia., Pamphlett R; Stacey MND Laboratory, Department of Pathology, University of Sydney, Sydney, New South Wales, Australia., Kiernan MC; Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia., Grosskreutz J; Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany., Witte OW; Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany., Ringer T; Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany., Prell T; Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany., Stubendorff B; Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany., Kurth I; Institute of Human Genetics, Jena University Hospital, Jena, Germany., Hübner CA; Institute of Human Genetics, Jena University Hospital, Jena, Germany., Leigh PN; Department of Neurology, Brighton and Sussex Medical School Trafford Centre for Biomedical Research, University of Sussex, Falmer, UK., Casale F; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy., Chio A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.; Azienda Ospedaliera Città della Salute e della Scienza, Turin, Italy., Beghi E; Laboratory of Neurological Diseases, Department of Neuroscience, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy., Pupillo E; Laboratory of Neurological Diseases, Department of Neuroscience, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy., Tortelli R; Department of Clinical Research in Neurology, University of Bari 'A. Moro' at Pia Fondazione 'Card. G. Panico', Tricase, Italy., Logroscino G; Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari 'Aldo Moro', Bari, Italy.; Unit of Neurodegenerative Diseases, Department of Clinical Research in Neurology, University of Bari 'Aldo Moro' at Pia Fondazione Cardinale G. Panico, Tricase, Italy., Powell J; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., Ludolph AC; Department of Neurology, Ulm University, Ulm, Germany., Weishaupt JH; Department of Neurology, Ulm University, Ulm, Germany., Robberecht W; Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven-University of Leuven, Leuven, Belgium.; Vesalius Research Center, Laboratory of Neurobiology, VIB, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., Van Damme P; Department of Neurosciences, Experimental Neurology, Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven-University of Leuven, Leuven, Belgium.; Vesalius Research Center, Laboratory of Neurobiology, VIB, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., Franke L; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands., Pers TH; Division of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics, Boston Children's Hospital, Boston, Massachusetts, USA.; Center for Basic Translational Obesity Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA., Brown RH; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Glass JD; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.; Emory ALS Center, Emory University School of Medicine, Atlanta, Georgia, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Hardiman O; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Andersen PM; Department of Neurology, Ulm University, Ulm, Germany.; Department of Pharmacology and Clinical Neurosience, Umeå University, Umeå, Sweden., Corcia P; INSERM U930, Université François Rabelais, Tours, France.; Centre SLA, CHRU de Tours, Tours, France.; Federation des Centres SLA Tours and Limoges, LITORALS, Tours, France., Vourc'h P; INSERM U930, Université François Rabelais, Tours, France., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Tranplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Wray NR; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia., Visscher PM; Queensland Brain Institute, University of Queensland, Brisbane, Queensland, Australia.; Diamantina Institute, University of Queensland Translational Research Institute, Brisbane, Queensland, Australia., de Bakker PI; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands.; Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands., van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Pasterkamp RJ; Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Lewis CM; MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; Department of Medical and Molecular Genetics, King's College London, London, UK., Breen G; MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.; NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital and Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, UK., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

Publikováno v: Nature genetics [Nat Genet] 2016 Sep; Vol. 48 (9), pp. 1043-8. Date of Electronic Publication: 2016 Jul 25.

Fcγ receptor IIIA genotype is associated with rituximab response in antimyelin-associated glycoprotein neuropathy.

Autor: Stork AC; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands., Notermans NC; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands., Schellevis RD; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands., Niermeijer JM; Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands., Nederend M; Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., Leusen JH; Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., van der Pol WL; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands.

Publikováno v: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2014 Aug; Vol. 85 (8), pp. 918-20. Date of Electronic Publication: 2014 Jan 31.

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.

Autor: van Doormaal PT; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands., van Rheenen W, van Blitterswijk M, Schellevis RD, Schelhaas HJ, de Visser M, van der Kooi AJ, Veldink JH, van den Berg LH

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2012 Sep; Vol. 33 (9), pp. 2233.e7-2233.e8. Date of Electronic Publication: 2012 Jun 05.