Claire Guissart

Université de Montpellier

France

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Articles (7)

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2021

Year:

2021

Year:

2020

Collaborators (2)

Thomas McWilliams

Assistant Professor of Mitochondrial Medicine, Academy of Finland Research Fellow

University of Helsinki

FINLAND

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Angela Bahr

University of Zurich

SWITZERLAND

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Claire Guissart

Research Interests

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Articles (7)

MostSOD1mutations are pathogenic, and their identification can lead to early access to treatment

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

HeterozygousSPTLC1p.Leu39del is a major cause of slow-progressing juvenile ALS

Discovering the ANK2‐related autism phenotype

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

ATP8A2-related disorders as recessive cerebellar ataxia

Collaborators (2)

Thomas McWilliams

Angela Bahr

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