Concepedia

Marion Masingue

MM

Statistics

Publications

6

Citations

185

H-Index

6

Active since

2018

Affiliations

Sorbonne Université(Current)

Institut de Myologie

Assistance Publique – Hôpitaux de Paris

Inserm

Pitié-Salpêtrière Hospital

Marion Masingue is an author at Sorbonne Université specializing in medicine, molecular genetics, and molecular biology.

ORCID

Top concepts

Publications per year

2018–2024

6

Publications

6

Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes

Maria del Mar Amador, Marion Masingue, Rabab Debs et al. · Journal of Inherited Metabolic Disease · 2018 · 66 citations · Full text

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Johanna Palmio, Per Harald Jonson, Michio Inoue et al. · Neuromuscular Disorders · 2019 · 38 citations · Full text

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Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

Gorka Fernández‐Eulate, Giorgia Querin, U. Moore et al. · European Journal of Neurology · 2021 · 30 citations

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

Andrea Cortese, Sarah J. Beecroft, Stefano Facchini et al. · Nature Communications · 2024 · 25 citations · Full text

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Lucie I. Pisella, Sara B. Fernandes, Guilhem Solé et al. · Orphanet Journal of Rare Diseases · 2021 · 16 citations · Full text

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