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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

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作者单位: 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic. [1] 2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium. [2] 4 Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI-48109, USA 5 Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI-48109, USA. [3] 6 Department of Neurology, Klinikum Kassel, Kassel 34125, Germany. [4] 7 Department of Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic. [5] 8 Department of Pharmacology, University of Michigan Medical School, Ann Arbor, MI-48109, USA. [6] 9 Medizinisch Genetisches Zentrum, Munich 80335, Germany 10 Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich 80336, Germany. [7] 11 Division of Human Genetics and Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria. [8] 12 Department of Medical Genetics, University of Lausanne, Lausanne 1005, Switzerland. [9] 13 Dr John T McDonald Foundation Department of Human Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL-33136, USA. [10] 4 Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI-48109, USA 14 Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI-48109, USA 15 Department of Neurology, University of Michigan Medical School, Ann Arbor, MI-48109, USA. [11] 2 Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerpen 2610, Belgium 3 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerpen 2610, Belgium 16 Department of Neurology, Antwerp University Hospital, Antwerpen 2610, Belgium. [12] 10 Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich 80336, Germany. [13] 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 150 06, Czech Republic pseeman@yahoo.com. [14]
DOI 10.1093/brain/awv158
PMID 26072516
发布时间 2022-04-08
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Brain : a journal of neurology

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