Tétreault, Martine

Top Publications

Top Publications Authored or Co-Authored by "Tétreault, Martine"

• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 219
• Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans

  PLoS Biology, Volume 10, No. 3, Article e1001288, Year 2012, Citations 158
• Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

  American Journal of Human Genetics, Volume 97, No. 6, Year 2015, Citations 157
• A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34

  Brain, Volume 129, No. 9, Year 2006, Citations 49
• A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12

  Brain, Volume 130, No. 2, Year 2007, Citations 47