Claire Guissart
5PUBLICATIONS
3CO-AUTHORS
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Publications (5)
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|Jun 26, 2024
Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.Elisa De La Cruz, Florence Esselin, Anne Polge
|Dec 02, 2023
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.Claire Guissart, Elisa De la Cruz, Olivier Flabeau
|Apr 23, 2023
Discovering the ANK2-related autism phenotype.Claire Guissart, Anne Polge, Nelly Durand
|Oct 16, 2019
ATP8A2-related disorders as recessive cerebellar ataxia.Claire Guissart, Alexander N Harrison, Mehdi Benkirane
|Dec 17, 2015
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).Claire Guissart, Nathalie Drouot, Ibrahim Oncel
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