Emmanuelle Pion
Montpellier, France
Last Updated: 09/26/2026
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Found 10 publications
2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.
Journal: Journal of neuromuscular diseases
Published: July 09, 2026
Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.
Journal: Muscle & nerve
Published: September 08, 2025
The clinical actionability of genes: A concept for rare diseases and the first objective assessment for myopathies
Journal: Medecine sciences : M/S
Published: November 18, 2024
An Anti-Invasive Role for Mdmx through the RhoA GTPase under the Control of the NEDD8 Pathway.
Journal: Cells
Published: August 08, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Journal: Annals of clinical and translational neurology
Published: February 26, 2024
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Journal: International journal of molecular sciences
Published: June 29, 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Journal: Genes
Published: January 05, 2022
DNA-binding regulates site-specific ubiquitination of IRF-1.
Journal: The Biochemical journal
Published: November 09, 2012
The ubiquitin E1 enzyme Ube1 mediates NEDD8 activation under diverse stress conditions.
Journal: Cell cycle (Georgetown, Tex.)
Published: February 29, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026