Concepedia

Laurence Gauquelin

LG

Statistics

Publications

8

Citations

280

H-Index

8

Active since

2017

Affiliations

Montreal Children's Hospital(Current)

Hospital for Sick Children

McGill University

Children's Mercy Hospital

University of Toronto

Laurence Gauquelin is an author at Montreal Children's Hospital specializing in molecular genetics, life sciences, and human genetics.

ORCID

Publications per year

2017–2020

8

Publications

8

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 · 89 citations · Full text

, , +12

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

Sandra Donkervoort, Rasha Sabouny, Pomi Yun et al. · Acta Neuropathologica · 2019 · 50 citations · Full text

, , +17

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

, , +11

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

, , +17

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

Stefanie Perrier, Laurence Gauquelin, Martine Tétreault et al. · Clinical Genetics · 2017 · 17 citations

, , +17

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