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COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration.
Caglayan, Ahmet Okay; Gumus, Hakan; Sandford, Erin; Kubisiak, Thomas L; Ma, Qianyi; Ozel, A Bilge; Per, Huseyin; Li, Jun Z; Shakkottai, Vikram G; Burmeister, Margit.
  • Caglayan AO; Department of Medical Genetics, School of Medicine, Demiroglu Bilim University, 34394, Istanbul, Turkey.
  • Gumus H; Division of Pediatric Neurology, Department of Pediatrics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey.
  • Sandford E; Molecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
  • Kubisiak TL; Molecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
  • Ma Q; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Ozel AB; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Per H; Division of Pediatric Neurology, Department of Pediatrics, School of Medicine, Erciyes University, 38039, Kayseri, Turkey.
  • Li JZ; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.
  • Shakkottai VG; Department of Neurology, Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.
  • Burmeister M; Molecular & Behavioral Neuroscience Institute, University of Michigan, 5061 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. margit@umich.edu.
Cerebellum ; 18(3): 665-669, 2019 Jun.
Article en En | MEDLINE | ID: mdl-30847826

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Ubiquinona / Proteínas Mitocondriales / Mutación Límite: Adult / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Ubiquinona / Proteínas Mitocondriales / Mutación Límite: Adult / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article