Mignot Cyril

7PUBLICATIONS
146CO-AUTHORS
NeurogeneticsMolecular targetsInfant and child healthGene mappingPhotonics, optoelectronics and optical communications
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Publications (7)

|Mar 12, 2026
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli

|Aug 11, 2023
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.

Yeboah Kofi Gyening, Keren Boris, Mignot Cyril

|Sep 21, 2021
Implication of folate deficiency in CYP2U1 loss of function.

Claire Pujol, Anne Legrand, Livia Parodi

|May 04, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Ilaria Parenti, Daphné Lehalle, Caroline Nava

|Jun 20, 2020
Deciphering the natural history of SCA7 in children.

M G Bah, D Rodriguez, C Cazeneuve

|Dec 01, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Susan M Hiatt, Matthew B Neu, Ryne C Ramaker

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Frequent Collaborators

2 joint publications

Daphné Lehalle

2 joint publications

Diana Rodriguez

2 joint publications

Fanny Mochel

2 joint publications

Arthur Sorlin