Laurence Gauquelin

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Marisa I. Mendes, Mariana Salazar, Kether Guerrero et al. · The American Journal of Human Genetics · 2018 · 87 citations · Full text

Bi-allelic Mutations, Mendelian Disorder, Genetic Disorder +9

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants

Laurence Gauquelin, Ferdy Kurniawan Cayami, László Sztriha et al. · Neurology Genetics · 2019 · 50 citations · Full text

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Sandra Donkervoort, Rasha Sabouny, Pomi Yun et al. · Acta Neuropathologica · 2019 · 46 citations · Full text

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

Stefanie Perrier, Laurence Gauquelin, Catherine Fallet‐Bianco et al. · Neurology Genetics · 2020 · 36 citations · Full text

Recessive mutations in <i><scp>NDUFA2</scp></i> cause mitochondrial leukoencephalopathy

Stefanie Perrier, Laurence Gauquelin, Martine Tétreault et al. · Clinical Genetics · 2017 · 16 citations