Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

Схожие документы

• Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing
  по: Bris, Céline, et al.
  Опубликовано: (2018)
• Metabolically induced heteroplasmy shifting and L-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS
  по: Desquiret-Dumas, Valerie, et al.
  Опубликовано: (2012)
• Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy
  по: Charif, Majida, et al.
  Опубликовано: (2021)
• Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
  по: Kane, Mariame Selma, et al.
  Опубликовано: (2017)
• Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
  по: Angebault, Claire, et al.
  Опубликовано: (2011)