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A novel complex neurological phenotype due to a homozygous mutation in FDX2.

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第一作者: Juliana,Gurgel-Giannetti
第一单位: Department of Paediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
作者单位: Department of Paediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. [1] Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.;Leonard Wolfson Experimental Neurology Centre, UCL Institute of Neurology, London, UK. [2] Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil. [3] Neuroradiology Section, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil. [4] Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. [5] Department of Pathology and Genetics, Sahlgrenska University Hospital, University of Gothenburg, Sweden. [6] Institute for Cytobiology and Cytopathology, Philipps-Universität Marburg, Robert-Koch-Strasse 6, 35032 Marburg, Germany. [7] Department of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil. [8] Department of Neurology, Columbia University Medical Center, New York, USA. [9] Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands. [10] Institute for Cytobiology and Cytopathology, Philipps-Universität Marburg, Robert-Koch-Strasse 6, 35032 Marburg, Germany.;LOEWE Center for Synthetic Microbiology, SynMikro, Hans-Meerwein-Strasse, 35043 Marburg, Germany. [11] Neurogenetics Unit, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil.;Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. [12]
DOI 10.1093/brain/awy172
PMID 30010796
发布时间 2024-02-16
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Brain : a journal of neurology

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