Getting to the Nucleus of Mitochondrial Disorders: Identification of Respiratory Chain–Enzyme Genes Causing Leigh Syndrome

This publication has 16 references indexed in Scilit:

• The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome
  American Journal of Human Genetics, 1998
• Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease
  Cell, 1998
• The NuoI Subunit of the Rhodobacter Capsulatus Respiratory Complex I (Equivalent to the Bovine TYKY Subunit) is Required for Proper Assembly of the Membraneous and Peripheral Domains of the Enzyme
  European Journal of Biochemistry, 1997
• Molecular analysis of cytochromec Oxidase deficiency in Leigh's syndrome
  Annals of Neurology, 1997
• Deficiency of respiratory chain complex I is a common cause of leigh disease
  Annals of Neurology, 1996
• Genetic heterogeneity in leigh syndrome
  Annals of Neurology, 1996
• Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome
  Journal of Inherited Metabolic Disease, 1996
• Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
  Science, 1996
• Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
  Nature Genetics, 1995
• SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT
  Journal of Neurology, Neurosurgery & Psychiatry, 1951