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Paper Details

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>.
Neurology
16
2020
CMT, CMT genes, Charcot-Marie-Tooth disease, MME, MME variants, MME-encoded protein neprilysin, axonal neuropathies, blood, late-onset neuropathy, monogenic neuropathies, neprilysin, neuropathies, patient, patients, recessive alleles
Author NameAffiliation
Rita HorvathFrom the Friedrich-Baur-Institute (J.S., Charles University in Prague and University Hospital Motol, Mossakowski Medical Research Centre, Polish Academy of Sciences, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., University of Antwerp Neuromuscular Reference Centre (J.B., Antwerp University Hospital, Jena University Hospital Centogene AG (C.B.), Telemark Hospital Trust, Ulm University, University of Minnesota, Perelman School of Medicine at the University of Pennsylvania, University of Munster Institute of Human Genetics (K.E., RWTH Aachen University, Germany Sydney Medical School (M.E., Concord Hospital, ANZAC Research Institute, Medical University of Vienna, Institut de Myologie, University of Rochester, University of Cambridge School of Clinical Medicine, Konventhospital der Barmherzigen Bruder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., Austria Stanford Center for Undiagnosed Diseases (J.N.K.), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., Royal Perth Hospital, Medical University of Innsbruck, University of Sao Paulo, Hannover Medical School, University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., University of Tubingen German Center for Neurodegenerative Diseases (DZNE) (L.S., 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 fur Klinische Genetik (J. Wagner), Technische Universitat Dresden
Jennefer N KohlerFrom the Friedrich-Baur-Institute (J.S., Charles University in Prague and University Hospital Motol, Mossakowski Medical Research Centre, Polish Academy of Sciences, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., University of Antwerp Neuromuscular Reference Centre (J.B., Antwerp University Hospital, Jena University Hospital Centogene AG (C.B.), Telemark Hospital Trust, Ulm University, University of Minnesota, Perelman School of Medicine at the University of Pennsylvania, University of Munster Institute of Human Genetics (K.E., RWTH Aachen University, Germany Sydney Medical School (M.E., Concord Hospital, ANZAC Research Institute, Medical University of Vienna, Institut de Myologie, University of Rochester, University of Cambridge School of Clinical Medicine, Konventhospital der Barmherzigen Bruder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., Austria Stanford Center for Undiagnosed Diseases (J.N.K.), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., Royal Perth Hospital, Medical University of Innsbruck, University of Sao Paulo, Hannover Medical School, University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., University of Tubingen German Center for Neurodegenerative Diseases (DZNE) (L.S., 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 fur Klinische Genetik (J. Wagner), Technische Universitat Dresden
Nigel G LaingFrom the Friedrich-Baur-Institute (J.S., Charles University in Prague and University Hospital Motol, Mossakowski Medical Research Centre, Polish Academy of Sciences, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., University of Antwerp Neuromuscular Reference Centre (J.B., Antwerp University Hospital, Jena University Hospital Centogene AG (C.B.), Telemark Hospital Trust, Ulm University, University of Minnesota, Perelman School of Medicine at the University of Pennsylvania, University of Munster Institute of Human Genetics (K.E., RWTH Aachen University, Germany Sydney Medical School (M.E., Concord Hospital, ANZAC Research Institute, Medical University of Vienna, Institut de Myologie, University of Rochester, University of Cambridge School of Clinical Medicine, Konventhospital der Barmherzigen Bruder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., Austria Stanford Center for Undiagnosed Diseases (J.N.K.), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., Royal Perth Hospital, Medical University of Innsbruck, University of Sao Paulo, Hannover Medical School, University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., University of Tubingen German Center for Neurodegenerative Diseases (DZNE) (L.S., 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 fur Klinische Genetik (J. Wagner), Technische Universitat Dresden
Tim M StromFrom the Friedrich-Baur-Institute (J.S., Charles University in Prague and University Hospital Motol, Mossakowski Medical Research Centre, Polish Academy of Sciences, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., University of Antwerp Neuromuscular Reference Centre (J.B., Antwerp University Hospital, Jena University Hospital Centogene AG (C.B.), Telemark Hospital Trust, Ulm University, University of Minnesota, Perelman School of Medicine at the University of Pennsylvania, University of Munster Institute of Human Genetics (K.E., RWTH Aachen University, Germany Sydney Medical School (M.E., Concord Hospital, ANZAC Research Institute, Medical University of Vienna, Institut de Myologie, University of Rochester, University of Cambridge School of Clinical Medicine, Konventhospital der Barmherzigen Bruder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., Austria Stanford Center for Undiagnosed Diseases (J.N.K.), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., Royal Perth Hospital, Medical University of Innsbruck, University of Sao Paulo, Hannover Medical School, University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., University of Tubingen German Center for Neurodegenerative Diseases (DZNE) (L.S., 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 fur Klinische Genetik (J. Wagner), Technische Universitat Dresden
Reinhard WindhagerFrom the Friedrich-Baur-Institute (J.S., Charles University in Prague and University Hospital Motol, Mossakowski Medical Research Centre, Polish Academy of Sciences, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., University of Antwerp Neuromuscular Reference Centre (J.B., Antwerp University Hospital, Jena University Hospital Centogene AG (C.B.), Telemark Hospital Trust, Ulm University, University of Minnesota, Perelman School of Medicine at the University of Pennsylvania, University of Munster Institute of Human Genetics (K.E., RWTH Aachen University, Germany Sydney Medical School (M.E., Concord Hospital, ANZAC Research Institute, Medical University of Vienna, Institut de Myologie, University of Rochester, University of Cambridge School of Clinical Medicine, Konventhospital der Barmherzigen Bruder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., Austria Stanford Center for Undiagnosed Diseases (J.N.K.), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., Royal Perth Hospital, Medical University of Innsbruck, University of Sao Paulo, Hannover Medical School, University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., University of Tubingen German Center for Neurodegenerative Diseases (DZNE) (L.S., 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 fur Klinische Genetik (J. Wagner), Technische Universitat Dresden
Stephan Z??chnerFrom the Friedrich-Baur-Institute (J.S., Charles University in Prague and University Hospital Motol, Mossakowski Medical Research Centre, Polish Academy of Sciences, Poland Dr. John T. Macdonald Foundation Department of Human Genetics (L.A., John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Center for Molecular Neurology, University of Antwerp Institute Born-Bunge (J.B., University of Antwerp Neuromuscular Reference Centre (J.B., Antwerp University Hospital, Jena University Hospital Centogene AG (C.B.), Telemark Hospital Trust, Ulm University, University of Minnesota, Perelman School of Medicine at the University of Pennsylvania, University of Munster Institute of Human Genetics (K.E., RWTH Aachen University, Germany Sydney Medical School (M.E., Concord Hospital, ANZAC Research Institute, Medical University of Vienna, Institut de Myologie, University of Rochester, University of Cambridge School of Clinical Medicine, Konventhospital der Barmherzigen Bruder Linz Karl Chiari Lab for Orthopaedic Biology (K.K., Austria Stanford Center for Undiagnosed Diseases (J.N.K.), University of Western Australia, Nedlands Harry Perkins Institute of Medical Research (N.G.L., Royal Perth Hospital, Medical University of Innsbruck, University of Sao Paulo, Hannover Medical School, University of Pisa, Italy Institute of Human Genetics (S.R.-S.), Austria Department of Neurodegenerative Diseases Hertie-Institute for Clinical Brain Research and Center of Neurology (L.S., University of Tubingen German Center for Neurodegenerative Diseases (DZNE) (L.S., 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 fur Klinische Genetik (J. Wagner), Technische Universitat Dresden
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