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Autor
Baets, Jonathan 2 De Jonghe, Peter 2 Horvath, Rita 2 Schlotter-Weigel, Beate 2 Seeman, Pavel 2 Young, Peter 2 Abreu, Lisa 1 Auer-Grumbach, Michaela 1 Beetz, Christian 1 Beissbarth, Tim 1 Berciano, José 1 Braathen, Geir J 1 Brenner, David 1 Czesnik, Dirk 1 Dalton, Joline 1 Dankwa, Lois 1 Deconinck, Tine 1 Dräger, Bianca 1 Dubourg, Odile 1 Eggermann, Katja 1
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Pracoviště
AP HP Institut de Myologie Centre de ... 1 AP HP Laboratoire de génétique molécu... 1 CMT TRIAAL Milan Italy 1 Center for Molecular Neurology VIB An... 1 Centogene AG Rostock Germany 1 Centre for Medical Research Universit... 1 DNA Laboratory Department of Pediatri... 1 Department of Child Neurology Charles... 1 Department of Clinical Chemistry and ... 1 Department of Clinical Neurophysiolog... 1 Department of Clinical Neurophysiolog... 1 Department of Clinical Neurosciences ... 1 Department of Clinical Neurosciences ... 1 Department of Clinical and Experiment... 1 Department of Medical Genetics Telema... 1 Department of Medical Statistics Univ... 1 Department of Neurodegenerative Disea... 1 Department of Neurogenetics Max Planc... 1 Department of Neurology Carver Colleg... 1 Department of Neurology Hannover Medi... 1
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Autor
Baets, Jonathan 2 De Jonghe, Peter 2 Horvath, Rita 2 Schlotter-Weigel, Beate 2 Seeman, Pavel 2 Young, Peter 2 Abreu, Lisa 1 Auer-Grumbach, Michaela 1 Beetz, Christian 1 Beissbarth, Tim 1 Berciano, José 1 Braathen, Geir J 1 Brenner, David 1 Czesnik, Dirk 1 Dalton, Joline 1 Dankwa, Lois 1 Deconinck, Tine 1 Dräger, Bianca 1 Dubourg, Odile 1 Eggermann, Katja 1
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Pracoviště
AP HP Institut de Myologie Centre de ... 1 AP HP Laboratoire de génétique molécu... 1 CMT TRIAAL Milan Italy 1 Center for Molecular Neurology VIB An... 1 Centogene AG Rostock Germany 1 Centre for Medical Research Universit... 1 DNA Laboratory Department of Pediatri... 1 Department of Child Neurology Charles... 1 Department of Clinical Chemistry and ... 1 Department of Clinical Neurophysiolog... 1 Department of Clinical Neurophysiolog... 1 Department of Clinical Neurosciences ... 1 Department of Clinical Neurosciences ... 1 Department of Clinical and Experiment... 1 Department of Medical Genetics Telema... 1 Department of Medical Statistics Univ... 1 Department of Neurodegenerative Disea... 1 Department of Neurogenetics Max Planc... 1 Department of Neurology Carver Colleg... 1 Department of Neurology Hannover Medi... 1
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Senderek, Jan
Autor Senderek, Jan From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany. michaela.auer-grumbach@meduniwien.ac.at jan.senderek@med.uni-muenchen.de
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Lassuthova, Petra
Autor Lassuthova, Petra From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Kabzińska, Dagmara
Autor Kabzińska, Dagmara From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Abreu, Lisa
Autor Abreu, Lisa From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Baets, Jonathan
Autor Baets, Jonathan From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Beetz, Christian
Autor Beetz, Christian From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Braathen, Geir J
Autor Braathen, Geir J From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Brenner, David
Autor Brenner, David From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Dalton, Joline
Autor Dalton, Joline From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
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Dankwa, Lois
Autor Dankwa, Lois From the Friedrich-Baur-Institute (J.S., B.S.-W., M.W.), Department of Neurology, LMU Munich, Germany DNA Laboratory (P.L., P.S.), Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Czech Republic Neuromuscular Unit (D.K., A.K.), Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., A.R., S.Z.), John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, FL Neurogenetics Group (J.B., T.D., P.D.J.), Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., T.D., P.D.J.), University of Antwerp Neuromuscular Reference Centre (J.B., P.D.J.), Department of Neurology, Antwerp University Hospital, Belgium Department of Clinical Chemistry and Laboratory Medicine (C.B.), Jena University Hospital Centogene AG (C.B.), Rostock, Germany Department of Medical Genetics (G.J.B., H.H.), Telemark Hospital Trust, Skien, Norway Neurology Department (D.B., A.L., J. Weishaupt), Ulm University, Germany Department of Neurology (J.D., D. Walk), University of Minnesota, Minneapolis Department of Neurology (L.D.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia Department of Sleep Medicine and Neuromuscular Diseases (B.D., A.S., P.Y.), University of Münster Institute of Human Genetics (K.E., I.K.), Medical Faculty, RWTH Aachen University, Germany Sydney Medical School (M.E., M.K., G.N.), Concord Hospital, Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, Australia Department of Orthopaedics and Trauma Surgery (C.F., K.K., D. Weinmann, R.W., S.T., M.A.-G.), Medical University of Vienna, Austria AP-HP (T.S.), Institut de Myologie, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, G-H Pitié-Salpêtrière, Paris, France Department of Neurology (D.N.H.), University of Rochester, NY Department of Clinical Neurosciences (R.H.), University of Cambridge School of Clinical Medicine, UK Department of Neurology (S.I.), Konventhospital der Barmherzigen Brüder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., D. Weinmann, S.T.), Department of Orthopedics and Trauma Surgery, Medical University of Vienna, Austria Stanford Center for Undiagnosed Diseases (J.N.K.), Stanford, CA Undiagnosed Diseases Network (UDN) (J.N.K., S.Z.) Centre for Medical Research (N.G.L., R.O., G.Ravenscroft), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., R.O., G. Ravenscroft), Nedlands Neurogenetic Unit (P.J.L.), Royal Perth Hospital, Perth, Australia Department of Neurology (W.N.L., J. Wanschitz), Medical University of Innsbruck, Austria Department of Neurosciences and Behavior (W.M.), Medical School of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil Department of Neurology (S.P.), Hannover Medical School, Germany Department of Clinical and Experimental Medicine (G. Ricci), University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Medical University of Innsbruck, Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., R.S., M.S.), University of Tübingen German Center for Neurodegenerative Diseases (DZNE) (L.S., R.S., M.S.), Tübingen, Germany AP-HP (B.F.), Laboratoire de génétique moléculaire, pharmacogénétique et hormonologie, Hôpital de Bicêtre Le Kremlin-Bicêtre, France Institute of Human Genetics (T.M.S.), Helmholtz Zentrum Munich-German Research Center for Environmental Health, Neuherberg Institute for Human Genetics (T.M.S.), Technical University Munich and Institut für Klinische Genetik (J. Wagner), Technische Universität Dresden, Medizinische Fakultät Carl Gustav Carus, Germany
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease onset ≥35 years. METHODS: We recruited patients, collected clinical data, and conducted whole-exome sequencing (WES; n = 126) and MME single-gene sequencing (n = 104). We further queried WES repositories for MME variants and measured blood levels of the MME-encoded protein neprilysin. RESULTS: In the WES cohort, the overall detection rate for assumed disease-causing variants in genes for CMT or other conditions associated with neuropathies was 18.3% (familial cases 26.4%, apparently sporadic cases 12.3%). MME was most frequently involved and accounted for 34.8% of genetically solved cases. The relevance of MME for late-onset neuropathies was further supported by detection of a comparable proportion of cases in an independent patient sample, preponderance of MME variants among patients compared to population frequencies, retrieval of additional late-onset neuropathy patients with MME variants from WES repositories, and low neprilysin levels in patients' blood samples. Transmission of MME variants was often consistent with an incompletely penetrant autosomal-dominant trait and less frequently with autosomal-recessive inheritance. CONCLUSIONS: A detectable fraction of unexplained late-onset axonal neuropathies is genetically determined, by variants in either CMT genes or genes involved in other conditions that affect the peripheral nerves and can mimic a CMT phenotype. MME variants can act as completely penetrant recessive alleles but also confer dominantly inherited susceptibility to axonal neuropathies in an aging population.
- MeSH
- Charcotova-Marieova-Toothova nemoc krev genetika MeSH
- genetická predispozice k nemoci genetika MeSH
- hereditární motorické a senzitivní neuropatie krev genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- neprilysin krev genetika MeSH
- sekvenování exomu MeSH
- senioři MeSH
- stárnutí * krev MeSH
- věk při počátku nemoci MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Fledrich, Robert
- Mannil, Manoj
- Leha, Andreas
- Ehbrecht, Caroline
- Solari, Alessandra
- Pelayo-Negro, Ana L
- Berciano, José
- Schlotter-Weigel, Beate
- Schnizer, Tuuli J
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Prukop, Thomas
Autor Prukop, Thomas Department of Clinical Neurophysiology, University Medical Center Göttingen (UMG), Göttingen, Germany. Department of Neurogenetics, Max Planck Institute of Experimental Medicine, Göttingen, Germany. Institute of Clinical Pharmacology, University Medical Center Göttingen (UMG), Göttingen, Germany
Digitální knihovna NLK
Plný text - Článek
Nursing & Allied Health Database (ProQuest) od 1944-07-01 do Před 6 měsíci
Health & Medicine (ProQuest) od 1944-07-01 do Před 6 měsíci
Psychology Database (ProQuest) od 1944-07-01 do Před 6 měsíci
PubMed
28860329
DOI
10.1136/jnnp-2017-315721
Knihovny.cz E-zdroje
BACKGROUND: Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for sensitive outcome measures such as disease and progression biomarkers, which would add powerful tools to monitor therapeutic effects in CMT1A. METHODS: We established a pan-European and American consortium comprising nine clinical centres including 311 patients with CMT1A in total. From all patients, the CMT neuropathy score and secondary outcome measures were obtained and a skin biopsy collected. In order to assess and validate disease severity and progression biomarkers, we performed qPCR on a set of 16 animal model-derived potential biomarkers in skin biopsy mRNA extracts. RESULTS: In 266 patients with CMT1A, a cluster of eight cutaneous transcripts differentiates disease severity with a sensitivity and specificity of 90% and 76.1%, respectively. In an additional cohort of 45 patients with CMT1A, from whom a second skin biopsy was taken after 2-3 years, the cutaneous mRNA expression of GSTT2, CTSA, PPARG, CDA, ENPP1 and NRG1-Iis changing over time and correlates with disease progression. CONCLUSIONS: In summary, we provide evidence that cutaneous transcripts in patients with CMT1A serve as disease severity and progression biomarkers and, if implemented into clinical trials, they could markedly accelerate the development of a therapy for CMT1A.
- MeSH
- biopsie MeSH
- Charcotova-Marieova-Toothova nemoc krev genetika terapie MeSH
- dospělí MeSH
- fosfodiesterasy genetika MeSH
- genetická transkripce genetika MeSH
- genetické markery genetika MeSH
- glutathiontransferasa genetika MeSH
- glykoproteiny genetika MeSH
- kathepsin A genetika MeSH
- kůže patologie MeSH
- kvantitativní polymerázová řetězová reakce MeSH
- lidé středního věku MeSH
- lidé MeSH
- messenger RNA genetika MeSH
- neuregulin-1 genetika MeSH
- PPAR gama genetika MeSH
- prognóza MeSH
- progrese nemoci * MeSH
- pyrofosfatasy genetika MeSH
- senioři MeSH
- výsledek terapie * MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
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