Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome

Những quyển sách tương tự

• Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant
  Bằng: Gropman, Andrea, et al.
  Được phát hành: (2018)
• The m.11778 A>G Variant Associated with the Coexistence of Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis-like Illness Dysregulates the Metabolic Interplay between Mitochondrial Oxidative Phosphorylation and Glycolysis
  Bằng: Uittenbogaard, Martine, et al.
  Được phát hành: (2018)
• De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
  Bằng: Takahashi, S, et al.
  Được phát hành: (1998)
• Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications
  Bằng: Uittenbogaard, Martine, et al.
  Được phát hành: (2020)
• Cerebellar stroke-like lesions in Leigh syndrome due to the variant m.8993T>C in MT-ATP6
  Bằng: Josef Finsterer
  Được phát hành: (2020-03-01)