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Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease.
Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Göricke, Sophia L; Lingor, Paul; Brüggemann, Norbert; Münchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A; Haack, Tobias B; Distelmaier, Felix; Deschauer, Marcus.
Affiliation
  • Cordts I; Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
  • Semmler L; Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
  • Prasuhn J; Department of Neurology, Center for Brain, Behavior, and Metabolism, University Medical Center Schleswig-Holstein, Lübeck, Germany.
  • Seibt A; Institute of Neurogenetics, University Medical Center Schleswig-Holstein, Lübeck, Germany.
  • Herebian D; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Navaratnarajah T; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Park J; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
  • Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Göricke SL; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Lingor P; Department of Neuropediatrics, Developmental Neurology, and Social Pediatrics, University of Tübingen, Tübingen, Germany.
  • Brüggemann N; Institute of Diagnostic and Interventional Radiology and Neuroradiology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.
  • Münchau A; Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
  • Synofzik M; Department of Neurology, Center for Brain, Behavior, and Metabolism, University Medical Center Schleswig-Holstein, Lübeck, Germany.
  • Timmann D; Institute of Neurogenetics, University Medical Center Schleswig-Holstein, Lübeck, Germany.
  • Mayr JA; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
  • Haack TB; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
  • Distelmaier F; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Deschauer M; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, Essen, Germany.
Mov Disord ; 37(10): 2147-2153, 2022 10.
Article in En | MEDLINE | ID: mdl-36047608
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Ubiquinone / Mitochondrial Proteins Limits: Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2022 Type: Article Affiliation country: Germany
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Ubiquinone / Mitochondrial Proteins Limits: Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2022 Type: Article Affiliation country: Germany