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Tytuł:
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.
Autorzy:
Dekker AM; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Diekstra FP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Pulit SL; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Tazelaar GHP; Department of Neurology, Brain Center Rudolf Magnus, 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.
van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
van Eijk KR; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Calvo A; Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Brunetti M; Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Damme PV; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven, Research Institute for Neuroscience and Disease (LIND), B-3000, Leuven, Belgium.; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium.; University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
Robberecht W; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven, Research Institute for Neuroscience and Disease (LIND), B-3000, Leuven, Belgium.; VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium.; University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
Hardiman O; Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin, Ireland.
McLaughlin R; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
Chiò A; Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Sendtner M; Institute of Clinical Neurobiology, University of Würzburg, Würzburg, Germany.
Ludolph AC; Department of Neurology, Ulm University, Ulm, Germany.
Weishaupt JH; Department of Neurology, Ulm University, Ulm, Germany.
Pardina JSM; ALS Unit, Hospital San Rafael, Madrid, Spain.
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. .
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Źródło:
Scientific reports [Sci Rep] 2019 Apr 11; Vol. 9 (1), pp. 5931. Date of Electronic Publication: 2019 Apr 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Markers*
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Amyotrophic Lateral Sclerosis/*genetics
Amyotrophic Lateral Sclerosis/*pathology
Exome/*genetics
Case-Control Studies ; Genetic Association Studies ; Genotype ; Humans ; Phenotype ; Exome Sequencing
Czasopismo naukowe
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