Laurence Gauquelin

Chercheuse associée
Axe Neurosciences

Publications

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article Perrier S, Gauquelin L, Bernard G

Inherited white matter disorders: Hypomyelination (myelin disorders)

Handb Clin Neurol 204 2024.

DOI PUBMED
article Perrier S, Gauquelin L, Wambach JA, Bernard G

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

Am J Med Genet A 188 (2), 2022.

DOI PUBMED
article Gauquelin L, Hawkins C, Tam EWY, Miller SP, Yoon G

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder

Neurology 94 (14), 2020.

DOI PUBMED