Claire Guissart

Nimes, France

Last Updated: 09/26/2026

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Found 42 publications

Tofersen Treatment in SOD1-ALS: Real-World Evidence from a Retrospective Multicenter Study in France (FORSLA Study).

Tofersen Treatment in SOD1-ALS: Real-World Evidence from a Retrospective Multicenter Study in France (FORSLA Study).

Journal: Mayo Clinic proceedings. Innovations, quality & outcomes
Published: August 04, 2026

Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.

Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts.

Journal: Acta neuropathologica
Published: May 11, 2026

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.

Journal: BMJ neurology open
Published: November 11, 2025

Neuropathological analysis of an ALS patient carrying a SOD1 missense variant and a C9orf72 repeat expansion.

Neuropathological analysis of an ALS patient carrying a SOD1 missense variant and a C9orf72 repeat expansion.

Journal: Acta neuropathologica
Published: October 14, 2025

Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a SOD1 Variant of Uncertain Significance.

Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a SOD1 Variant of Uncertain Significance.

Journal: International journal of molecular sciences
Published: July 07, 2025

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

Journal: European journal of neurology
Published: May 01, 2025

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 27, 2024

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis.

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis.

Journal: International journal of molecular sciences
Published: July 02, 2024

The ALS-associated KIF5A P986L variant is not pathogenic for Drosophila motoneurons.

The ALS-associated KIF5A P986L variant is not pathogenic for Drosophila motoneurons.

Journal: Scientific reports
Published: June 16, 2024

Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.

Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: April 03, 2024

Corrected speciation and gyromitrin content of false morels linked to ALS patients with mostly slow-acetylator phenotypes.

Corrected speciation and gyromitrin content of false morels linked to ALS patients with mostly slow-acetylator phenotypes.

Journal: eNeurologicalSci
Published: March 11, 2024

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: April 28, 2023
Showing 1-12 of 42

Last Updated: 09/26/2026