Tranchant, Christine H.

Top Publications

Top Publications Authored or Co-Authored by "Tranchant, Christine H."

• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

  Nature Genetics, Volume 36, No. 3, Year 2004, Citations 473
• Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

  American Journal of Human Genetics, Volume 98, No. 3, Year 2016, Citations 324
• ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

  American Journal of Human Genetics, Volume 82, No. 3, Year 2008, Citations 301
• Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  Brain, Volume 132, No. 10, Year 2009, Citations 218
• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

  Brain, Volume 131, No. 3, Year 2008, Citations 213