Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Autor: Tazelaar, Gij SHP, Dekker, Annelot M, van Vugt, Joke JFA, van der Spek, Rick A, Westeneng, Henk-Jan, Kool, Lindy JBG, Kenna, Kevin P, van Rheenen, Wouter, Pulit, Sara L, McLaughlin, Russell L, Sproviero, William, Iacoangeli, Alfredo, Huebers, Annemarie, Brenner, David, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Povedano Panades, Monica, Mora Pardina, Jesus S, Glass, Jonathan D, Hardiman, Orla, Al-Chalabi, Ammar, van Damme, Philip, Robberecht, Wim, Landers, John E, Ludolph, Albert C, Weishaupt, Jochen H, van den Berg, Leonard H, Veldink, Jan H, van Es, Michael A, Akcimen, Fulya, Al Khleifat, Ahmad, Andersen, Peter, Basak, A Nazli, Bauer, Denis C, Blair, Ian, Brands, William J, Byrne, Ross P, Calvo, Andrea, Gonzalez, Yolanda Campos, Chio, Adriano, Cooper-Knock, Jonothan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian E, Eitan, Chen, Garcia Redondo, Alberto, Gellera, Cinzia, Gotkine, Marc, Hornstein, Eran, Kenna, Brendan, Kiernan, Matthew C, Kocoglu, Cemile, Kooyman, Maarten, Lopez Alonso, Victoria, Middelkoop, Bas, Mill, Jonathan, Mitne-Neto, Miguel, Moisse, Matthieu, Pinto, Susana C, Ratti, Antonia, Schellevis, Raymond D, Shatunov, Aleksey, Silani, Vincenzo, Staiger, Christine, Tazelaar, Gijs HP, Ticozzi, Nicola, Tunca, Ceren, Twine, Nathalie A, van Doormaal, Perry TC, van Eijk, Kristel R, Visscher, Peter M, Vourch, Patrick, Weber, Markus, Williams, Kelly L, Wray, Naomi, Yang, Jian, Zatz, Mayana, Zhang, Katharine

Publikováno v: Neurobiology of Aging, 74, 234.e9. Elsevier Inc.
Tazelaar, G HP, Dekker, A M, van Vugt, J JFA, van der Spek, R A, Westeneng, H-J, Kool, L JBG, Kenna, K P, van Rheenen, W, Pulit, S L, McLaughlin, R L, Sproviero, W, Iacoangeli, A, Hübers, A, Brenner, D, Morrison, K E, Shaw, P J, Shaw, C E, Panadés, M P, Mora Pardina, J S, Glass, J D, Hardiman, O, Al-Chalabi, A, van Damme, P, Robberecht, W, Landers, J E, Ludolph, A C, Weishaupt, J H, van den Berg, L H, Veldink, J H, van Es, M A 2018, ' Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort ', Neurobiology of Aging . https://doi.org/10.1016/j.neurobiolaging.2018.09.012
Neurobiol Aging

NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS). Previously,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c7e3c30fc30ee39468969a05e81277
https://dspace.library.uu.nl/handle/1874/392430

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

Autor: van Rheenen, Wouter, Shatunov, Aleksey, Dekker, Annelot M, McLaughlin, Russell L, Diekstra, Frank P, Pulit, Sara L, van der Spek, Rick A A, Võsa, Urmo, de Jong, Simone, Robinson, Matthew R, Yang, Jian, Fogh, Isabella, van Doormaal, Perry Tc, Tazelaar, Gijs H P, Koppers, Max, Blokhuis, Anna M, Sproviero, William, Jones, Ashley R, Kenna, Kevin P, van Eijk, Kristel R, Harschnitz, Oliver, Schellevis, Raymond D, Brands, William J, Medic, Jelena, Menelaou, Androniki, Vajda, Alice, Ticozzi, Nicola, Lin, Kuang, Rogelj, Boris, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Grošelj, Leja Dolenc, Millecamps, Stéphanie, Salachas, François, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Mora, Jesus S, Rojas-García, Ricardo, Polak, Meraida, Ophoff, Roel A., Blauw, Hylke M, de Bakker, Paul I W, van Es, Michael A, Pasterkamp, R Jeroen, van den Berg, Leonard H, Veldink, Jan H, PARALS Registry

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10691::fe3c4bef188dcb1022f4f8c06e8c024f
https://dspace.library.uu.nl/handle/1874/338432

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