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Jean Pouget

Aix-Marseille University

4

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146

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Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.

2020 Human Mutation
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

2017 Acta Neuropathologica
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An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

2014 Orphanet Journal of Rare Diseases
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Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.

2011 Annals of Neurology
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Citations (37)