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An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

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第一作者: Cecilia,Mancini
第一单位: Department of Medical Sciences, University of Torino, via Santena 19, 10126, Torino, Italy. cecilia.mancini@unito.it.
作者单位: Department of Medical Sciences, University of Torino, via Santena 19, 10126, Torino, Italy. cecilia.mancini@unito.it. [1] Struttura Complessa Neurologia I, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. lorsi@cittadellasalute.to.it. [2] Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. guoy@email.chop.edu. [3] BGI-Shenzhen, Shenzhen, 510803, China. lijiankang@genomics.cn. [4] BGI-Shenzhen, Shenzhen, 510803, China. shenyulan@genomics.cn. [5] Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. wangf@email.chop.edu. [6] Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. tianl@email.chop.edu. [7] BGI-Shenzhen, Shenzhen, 510803, China. liuxuanzhu@genomics.cn. [8] BGI-Shenzhen, Shenzhen, 510803, China. zhangjg@genomics.cn. [9] BGI-Shenzhen, Shenzhen, 510803, China. jianghui@genomics.cn.;Shenzhen Key Laboratory of Genomics, Shenzhen, 518083, China. jianghui@genomics.cn.;The Guangdong Enterprise Key Laboratory of Human Disease Genomics, BGI-Shenzhen, Shenzhen, 510803, China. jianghui@genomics.cn. [10] Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA. bcn6@pitt.edu. [11] Institute for Genetics, Center for Molecular Medicine (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, 50931, Germany. t.tatsuta@uni-koeln.de. [12] Department of Medical Sciences, University of Torino, via Santena 19, 10126, Torino, Italy. elisa.giorgio84@libero.it. [13] Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. eleonora.digregorio@unito.it. [14] Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. scavalieri@gmail.com. [15] Department of Medical Sciences, University of Torino, via Santena 19, 10126, Torino, Italy. elisa.pozzi@unito.it. [16] Struttura Complessa Neurologia I, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. paolo.mortara@unito.it.;Department of Neuroscience, University of Torino, Torino, 10126, Italy. paolo.mortara@unito.it. [17] Department of Neuroscience, University of Torino, Torino, 10126, Italy. marcella.caglio@unito.it.;Division of Neurology III, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. marcella.caglio@unito.it. [18] Department of Neuroscience, University of Torino, Torino, 10126, Italy. alessandro.balducci@unito.it.;Division of Neurology III, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. alessandro.balducci@unito.it. [19] Struttura Complessa Neurologia I, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. lorenzo.pinessi@unito.it.;Department of Neuroscience, University of Torino, Torino, 10126, Italy. lorenzo.pinessi@unito.it. [20] Institute for Genetics, Center for Molecular Medicine (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, 50931, Germany. thomas.langer@uni-koeln.de.;Max-Planck-Institute for Biology of Aging, Cologne, 50931, Germany. thomas.langer@uni-koeln.de. [21] Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261, USA. qpadiath@pitt.edu. [22] Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu.;Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu.;Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. hakonarson@email.chop.edu. [23] BGI-Shenzhen, Shenzhen, 510803, China. zhangxq@genomics.cn.;Shenzhen Key Laboratory of Genomics, Shenzhen, 518083, China. zhangxq@genomics.cn.;The Guangdong Enterprise Key Laboratory of Human Disease Genomics, BGI-Shenzhen, Shenzhen, 510803, China. zhangxq@genomics.cn. [24] Department of Medical Sciences, University of Torino, via Santena 19, 10126, Torino, Italy. alfredo.brusco@unito.it.;Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, 10126, Italy. alfredo.brusco@unito.it. [25]
DOI 10.1186/s12881-015-0159-0
PMID 25927548
发布时间 2022-01-29
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