Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

Autor: Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna Yasek D, McLaughlin RL, Polak M, Asress S, Esteban Pérez J, Muñoz Blanco JL, Simpson M, SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE, COMI , GIANCARLO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10495::6daeffcca4d8b64c305b41c71ab61433

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Autor: Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., van Doormaal PT; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., Dekker AM; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., Ticozzi N; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Kenna BJ; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Diekstra FP; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., van Rheenen W; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., van Eijk KR; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., Jones AR; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Sproviero W; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Smith BN; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., van Es MA; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., Topp SD; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Kenna A; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Miller JW; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Fallini C; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Tiloca C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Doctoral School in Molecular Medicine, Department of Sciences and Biomedical Technologies, Università degli Studi di Milano, Milan, Italy., McLaughlin RL; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland., Vance C; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Troakes C; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Colombrita C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Mora G; Salvatore Maugeri Foundation, IRCSS, Scientific Institute of Milano, Milan, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy., Verde F; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Al-Sarraj S; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., King A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Calini D; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy., de Belleroche J; Neurogenetics Group, Division of Brain Sciences, Imperial College London, London, UK., Baas F; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands., van der Kooi AJ; Department of Neurogenetics and Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands., de Visser M; Department of Neurogenetics and Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands., Ten Asbroek AL; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands., Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Polak M; Department of Neurology, Emory University, Atlanta, Georgia, USA., Asress S; Department of Neurology, Emory University, Atlanta, Georgia, USA., Muñoz-Blanco JL; Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid, Madrid, Spain., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Technische Universität München, Munich, Germany., Morrison KE; Faculty of Medicine, University of Southampton, Southampton, UK., Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Williams KL; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia., Leigh PN; Trafford Centre for Medical Research, Brighton and Sussex Medical School, Falmer, UK., Nicholson GA; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.; ANZAC Research Institute, Concord Hospital, University of Sydney, Sydney, New South Wales, Australia., Blair IP; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia., Leblond CS; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Dion PA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Pall H; Institute of Clinical Studies, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.; Department of Neurology, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, UK., Shaw PJ; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Boylan KB; Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, USA., Van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) U-723, Madrid, Spain., García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) U-723, Madrid, Spain., Van Damme P; Laboratory of Neurobiology, Department of Neurosciences, KU Leuven and Vesalius Research Centre, VIB, Leuven, Belgium.; Department of Neurology, University Hospitals, Leuven, Belgium., Robberecht W; Laboratory of Neurobiology, Department of Neurosciences, KU Leuven and Vesalius Research Centre, VIB, Leuven, Belgium.; Department of Neurology, University Hospitals, Leuven, Belgium., Chio A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Drepper C; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany.; Department of Child and Adolescent Psychiatry, University Hospital of Würzburg, Würzburg, Germany., Sendtner M; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany., Ratti A; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Glass JD; Department of Neurology, Emory University, Atlanta, Georgia, USA., Mora JS; ALS Unit/Neurology, Hospital San Rafael, Madrid, Spain., Basak NA; NDAL, Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland., Ludolph AC; Neurology Department, Ulm University, Ulm, Germany., Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., Weishaupt JH; Neurology Department, Ulm University, Ulm, Germany., Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., Silani V; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK., van den Berg LH; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., Veldink JH; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

Publikováno v: Nature genetics [Nat Genet] 2016 Sep; Vol. 48 (9), pp. 1037-42. Date of Electronic Publication: 2016 Jul 25.

Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex.

Autor: Aronica E; Department of (Neuro) Pathology, Academic Medical Center, Amsterdam, The Netherlands; Swammerdam Institute for Life Sciences, Center for Neuroscience, University of Amsterdam, Amsterdam, The Netherlands., Baas F; Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands., Iyer A; Department of (Neuro) Pathology, Academic Medical Center, Amsterdam, The Netherlands., ten Asbroek AL; Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands., Morello G; Functional Genomics Center, Institute of Neurological Sciences, Italian National Research Council, Catania, Italy., Cavallaro S; Functional Genomics Center, Institute of Neurological Sciences, Italian National Research Council, Catania, Italy. Electronic address: sebastiano.cavallaro@cnr.it.

Publikováno v: Neurobiology of disease [Neurobiol Dis] 2015 Feb; Vol. 74, pp. 359-76. Date of Electronic Publication: 2014 Dec 10.

Mouse Schwann cells activate MHC class I and II restricted T-cell responses, but require external peptide processing for MHC class II presentation.

Autor: Meyer zu Hörste G; Department of Neurology, Heinrich-Heine-University, Düsseldorf, Germany. gerd.mzh@uni-duesseldorf.de, Heidenreich H, Mausberg AK, Lehmann HC, ten Asbroek AL, Saavedra JT, Baas F, Hartung HP, Wiendl H, Kieseier BC

Publikováno v: Neurobiology of disease [Neurobiol Dis] 2010 Feb; Vol. 37 (2), pp. 483-90. Date of Electronic Publication: 2009 Nov 13.

Comparison of Schwann cell and sciatic nerve transcriptomes indicates that mouse is a valid model for the human peripheral nervous system.

Autor: Ten Asbroek AL; Neurogenetics Laboratory, Academic Medical Center, Amsterdam, The Netherlands., Van Ruissen F, Ruijter JM, Baas F

Publikováno v: Journal of neuroscience research [J Neurosci Res] 2006 Aug 15; Vol. 84 (3), pp. 542-52.