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Autor: Herrmann, David N

2 záznamů v Medvik Filtry

Článek

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

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
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
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
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
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
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
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
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
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
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

Neurology. 2020 ; 95 (24) : e3163-e3179. [pub] 20201103

ISSN 1526-632X
Medvik
Zdroj

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

Článek

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser

Human mutation. 2018 ; 39 (5) : 635-642. [pub] 20180314

Hum Mutat
ISSN 1098-1004
Medvik
Zdroj

Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated one in 2,500 people. Over 120 CMT and related genes have been identified and clinical gene panels often contain more than 100 genes. Such a large genomic space will invariantly yield variants of uncertain clinical significance (VUS) in nearly any person tested. This rise in number of VUS creates major challenges for genetic counseling. Additionally, fewer individual variants in known genes are being published as the academic merit is decreasing, and most testing now happens in clinical laboratories, which typically do not correlate their variants with clinical phenotypes. For CMT, we aim to encourage and facilitate the global capture of variant data to gain a large collection of alleles in CMT genes, ideally in conjunction with phenotypic information. The Inherited Neuropathy Variant Browser provides user-friendly open access to currently reported variation in CMT genes. Geneticists, physicians, and genetic counselors can enter variants detected by clinical tests or in research studies in addition to genetic variation gathered from published literature, which are then submitted to ClinVar biannually. Active participation of the broader CMT community will provide an advance over existing resources for interpretation of CMT genetic variation.

MeSH
alely MeSH
charakteristiky bydlení * MeSH
Charcotova-Marieova-Toothova nemoc genetika MeSH
genetická variace * MeSH
internet * MeSH
lidé MeSH
uživatelské rozhraní počítače MeSH
vyhledávač MeSH
Check Tag
lidé MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH
Research Support, N.I.H., Extramural MeSH

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