Sylvie Friant
Strasbourg, 67000, France
Last Updated: 09/26/2026
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Found 34 publications
Severe neonatal-onset PYROXD1-related myopathy with a novel homozygous missense variant: expanding the phenotypic spectrum.
Journal: Neuromuscular disorders : NMD
Published: December 03, 2025
Galectin-3 Mediated Endocytosis of the Orphan G-Protein-Coupled Receptor GPRC5A.
Journal: Cells
Published: July 30, 2025
Oligomer-based functions of mitochondrial porin.
Journal: Nature communications
Published: December 31, 2024
Monitoring mitochondrial localization of dual localized proteins using a Bi-Genomic Mitochondrial-Split-GFP.
Journal: Methods in enzymology
Published: October 25, 2024
Combining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes.
Journal: Nature communications
Published: June 07, 2024
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.
Journal: European journal of human genetics : EJHG
Published: February 16, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Journal: EMBO molecular medicine
Published: January 09, 2024
A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 28, 2021
Cex1 is a component of the COPI intracellular trafficking machinery.
Journal: Biology open
Published: March 23, 2021
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Journal: EMBO molecular medicine
Published: December 05, 2019
Last Updated: 09/26/2026