首页> Genetics in medicine : official journal of the American College of Medical Genetics> Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

导出 LinkOut

翻译打印收藏纠错

第一作者： Daliya,Kancheva

第一单位： Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.;Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.;Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia, Bulgaria.

作者： Daliya,Kancheva ^[1] ; Derek,Atkinson ^[2] ; Peter,De Rijk ^[3] ; Magdalena,Zimon ^[4] ; Teodora,Chamova ^[5] ; Vanyo,Mitev ^[6] ; Ahmet,Yaramis ^[7] ; Gian,Maria Fabrizi ^[8] ; Haluk,Topaloglu ^[9] ; Ivailo,Tournev ^[10] ; Yesim,Parman ^[11] ; Yesim,Parma ^[12] ; Esra,Battaloglu ^[2] ; Alejandro,Estrada-Cuzcano ^[1] ; Albena,Jordanova

作者单位： Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.;Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.;Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia, Bulgaria. ^[1] Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.;Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. ^[2] Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium. ^[3] Molecular Neurogenomics Group, Department of Molecular Genetics, VIB, University of Antwerp, Antwerp, Belgium.;Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.;Current address: Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg, Germany. ^[4] Department of Neurology, Medical University-Sofia, Sofia, Bulgaria. ^[5] Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia, Bulgaria. ^[6] Department of Pediatrics, Dicle University School of Medicine, Diyarbakir, Turkey. ^[7] Department of Neurological, Neuropsychological, Morphological and Motor Sciences, University of Verona, Verona, Italy. ^[8] Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. ^[9] Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.;Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria. ^[10] Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. ^[11] Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. ^[12]