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Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
Dierick, Ines ; Baets, Jonathan ; Irobi, Joy ; Jacobs, An ; De Vriendt, Els ; Deconinck, Tine ; Merlini, Luciano ; Van den Bergh, Peter ; Rasic, Vedrana Milic ; Robberecht, Wim ; Fischer, Dirk ; Morales, Raul Juntas ; Mitrovic, Zoran ; Seeman, Pavel ; Mazanec, Radim ; Kochanski, Andrzej ; Jordanova, Albena ; Auer-Grumbach, Michaela ; Helderman-van den Enden, A. T. J. M. ; Wokke, John H. J. ; Nelis, Eva ; De Jonghe, Peter ; Timmerman, Vincent
In: Brain, 2008, vol. 131, no. 5, p. 1217-1227
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- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
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- Dierick, Ines. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Baets, Jonathan. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Irobi, Joy. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Jacobs, An. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- De Vriendt, Els. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Deconinck, Tine. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Merlini, Luciano. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Van den Bergh, Peter. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Rasic, Vedrana Milic. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Robberecht, Wim. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Fischer, Dirk. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Morales, Raul Juntas. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Mitrovic, Zoran. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Seeman, Pavel. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Mazanec, Radim. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Kochanski, Andrzej. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Jordanova, Albena. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Auer-Grumbach, Michaela. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Helderman-van den Enden, A. T. J. M.. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Wokke, John H. J.. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Nelis, Eva. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- De Jonghe, Peter. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Timmerman, Vincent. Peripheral Neuropathy Group, VIB Department of Molecular Genetics, Neurogenetics laboratory, Institute Born-Bunge, Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerpen, Belgium, Muscle Unit, Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Ferrara, Italy, Service de Neurologie, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium, Clinic of Child Neurology and Psychiatry, University of Belgrade, Belgrade, Serbia, Department of Neurology, University Hospital Gasthuisberg, Leuven, Belgium, Muskelzentrum St Gallen, Kantonsspital St Gallen, St Gallen, Department of Neurology, University Hospital of Basel, Basel, Switzerland, Neurology Department, University Hospital of Montpellier, Montpellier, France, National Center for Neuromuscular Diseases, Department of Neurology, University Hospital Center Zagreb, Zagreb, Croatia, Department of Child Neurology, Charles University, 2nd School of Medicine Prague, Department of Neurology, Charles University, 2nd School of Medicine and University Hospital Motol, Prague, Czech Republic, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland, Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria, Institute of Medical Biology and Department of Internal Medicine, Diabetes and Metabolism, Medical University Graz, Austria, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands and Division of Neurology, University Hospital Antwerpen, Antwerpen, Belgium
- Type de document
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- Postprint
- Langue
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- Anglais
- Publié dans
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- Brain, 2008, vol. 131, no. 5, p. 1217-1227. Oxford University Press
- Autre version électronique
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- Publisher's version : https://doi.org/10.1093/brain/awn029
- Classification
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- Santé
- Mots clés
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- Original Articles ; distal HMN ; BSCL2 ; HSPB1 ; HSPB8 ; SETX
- Identifiant OAI-PMH
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- oai:doc.rero.ch:299093
- Summary
- Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal α-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), small heat shock 27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Seip congenital lipodystrophy (BSCL2) and senataxin (SETX). In addition a mutation in the (VAMP)-associated protein B and C (VAPB) was found in several Brazilian families with complex and atypical forms of autosomal dominantly inherited motor neuron disease. We have investigated the distribution of mutations in these seven genes in a cohort of 112 familial and isolated patients with a diagnosis of distal motor neuropathy and found nine different disease-causing mutations in HSPB8, HSPB1, BSCL2 and SETX in 17 patients of whom 10 have been previously reported. No mutations were found in GARS, DCTN1 and VAPB. The phenotypic features of patients with mutations in HSPB8, HSPB1, BSCL2 and SETX fit within the distal HMN classification, with only one exception; a C-terminal HSPB1-mutation was associated with upper motor neuron signs. Furthermore, we provide evidence for a genetic mosaicism in transmitting an HSPB1 mutation. This study, performed in a large cohort of familial and isolated distal HMN patients, clearly confirms the genetic and phenotypic heterogeneity of distal HMN and provides a basis for the development of algorithms for diagnostic mutation screening in this group of disorders