Laurence Gauquelin
Quebec, QC G1V4G2, Canada
Last Updated: 09/26/2026
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Found 15 publications
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Journal: HGG advances
Published: April 18, 2025
Ifosfamide-Related Optic Nerve Toxicity: Case Description and Review of the Literature.
Journal: Pediatric blood & cancer
Published: April 15, 2025
Inherited white matter disorders: Hypomyelination (myelin disorders).
Journal: Handbook of clinical neurology
Published: September 25, 2024
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Journal: American journal of medical genetics. Part A
Published: August 27, 2021
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Journal: Movement disorders clinical practice
Published: April 17, 2020
Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder.
Journal: Neurology
Published: March 15, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Journal: Neurology. Genetics
Published: November 06, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Journal: Acta neuropathologica
Published: May 06, 2019
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Journal: Neurology. Genetics
Published: April 23, 2019
POLR3A variants in hereditary spastic paraplegia and ataxia.
Journal: Brain : a journal of neurology
Published: December 12, 2017
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Journal: American journal of human genetics
Published: November 04, 2017
The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: August 29, 2017
Last Updated: 09/26/2026