Marion Masingue

4PUBLICATIONS
23CO-AUTHORS
Neurology and neuromuscular diseasesMechanobiologyCraniofacial biology
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Publications (4)

|Aug 18, 2026
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

|Jan 08, 2026
MRPS Genes Causing Leukoencephalopathy With Profound Cerebral Folate Deficiency in Adults.

Daniele Mandia, Metodi D Metodiev, Jean-François Benoist

|Jan 17, 2020
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.

Marion Masingue, Marianne Arzel, Damien Sternberg

|Feb 04, 2018
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.

Marion Masingue, Jimmy Perrot, Robert-Yves Carlier

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Frequent Collaborators

1 joint publications

Thierry Kuntzer

1 joint publications

Daniele Mandia

1 joint publications

Foudil Lamari

1 joint publications

Julien Maquet