Martine Tétreault

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nícolas C. Hoch, Hana Hanzlíková, Stuart L. Rulten et al. · Nature · 2016 · 263 citations · Full text

Xrcc1 Mutation, Molecular Neuroscience, Genetic Disorder +6

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan et al. · The American Journal of Human Genetics · 2015 · 224 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Autosomal-recessive Intellectual Disability +10

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi et al. · The American Journal of Human Genetics · 2011 · 183 citations · Full text

Pol Iii, Mendelian Disorder, Genetic Disorder +7