Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.

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作者： Ali S,Shalash ^[1] ; Thomas W,Rösler ^[2] ; Ibrahim Y,Abdelrahman ^[3] ; Hatem S,Abulmakarem ^[4] ; Stefanie H,Müller ^[1] ; Franziska,Hopfner ^[5] ; Gregor,Kuhlenbäumer ^[6] ; Günter U,Höglinger ^[7] ; Mohamed,Salama ^[2]

作者单位： Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt. ^[1] Department of Neurology, School of Medicine, Technical University Munich, Munich, Germany. ^[2] Department of Translational Neurodegeneration, German Center for Neurodegenerative Diseases (DZNE), Munich, Germany. ^[3] Radiation Biology Department, National Center for Radiation Research and Technology, Egyptian Atomic Energy Authority, Cairo, Egypt. ^[4] Institute of Health Informatics, UCL, London, UK. ^[5] Department of Neurology, Hannover Medical School, Hannover, Germany. ^[6] Department of Neurology, Kiel University, Kiel, Germany. ^[7] Institute of Global Health and Human Ecology, American University in Cairo (AUC), Cairo, Egypt. ^[8] Faculty of Medicine, Mansoura University, Mansoura, Egypt. ^[9]

关键词 Dystonia Genetics Neurodegeneration iron accumulation PANK2 Pantothenate kinase-associated neurodegeneration Parkinsonism

DOI 10.1016/j.heliyon.2021.e07469

PMID 34286134

发布时间 2021-07-22

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Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.

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Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family.

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