Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

This publication has 23 references indexed in Scilit:

• A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23
  Neurology, 2008
• Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy
  The American Journal of Human Genetics, 2008
• Toxic effects of X-linked adrenoleukodystrophy-associated, very long chain fatty acids on glial cells and neurons from rat hippocampus in culture
  Human Molecular Genetics, 2008
• Hereditary spastic paraplegias: an update
  Current Opinion in Neurology, 2007
• Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
  The American Journal of Human Genetics, 2007
• Wrapping it up: the cell biology of myelination
  Current Opinion in Neurobiology, 2007
• A novel method for the measurement of in vitro fatty acid 2-hydroxylase activity by gas chromatography-mass spectrometry
  Journal of Lipid Research, 2005
• X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus
  Nature Genetics, 1994
• Site-directed mutagenesis by overlap extension using the polymerase chain reaction
  Gene, 1989
• Progressive Accumulation of Toxic Metabolite in a Genetic Leukodystrophy
  Science, 1984