Cyril Goizet

6PUBLICATIONS
102CO-AUTHORS
Infant and child healthGene expression (incl. microarray and other genome-wide approaches)Cardiology (incl. cardiovascular diseases)Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (6)

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|Mar 27, 2026
STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles.

Cecilia Marelli, Quentin Charret, Cyril Goizet

|Oct 11, 2025
Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.

Ignacio Antolin-Sanfeliz, Anna-Gaelle Giguet-Valard, Sophie Duclos

|Dec 28, 2024
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Manon Degoutin, Chloé Angelini, Claire Bar

|Dec 02, 2023
Heterozygous <i>SPTLC1</i> p.Leu39del is a major cause of slow-progressing juvenile ALS.

Claire Guissart, Elisa De la Cruz, Olivier Flabeau

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

Claire Pujol, Anne Legrand, Livia Parodi

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Frequent Collaborators

2 joint publications

Claire Bar

2 joint publications

Chloé Angelini

2 joint publications

Claire Ewenczyk

2 joint publications

Cécilia Marelli-Tosi