Sylvie Friant

12PUBLICATIONS
49CO-AUTHORS
CrystallographyMedical infection agents (incl. prions)Neurology and neuromuscular diseasesVision scienceGenome structure and regulation
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Publications (12)

|Oct 15, 2025
Galectin-3 Mediated Endocytosis of the Orphan G-Protein-Coupled Receptor GPRC5A.

Abdeldjalil Boucheham, Jorge Mallor Franco, Séverine Bär

|Jul 27, 2025
Oligomer-based functions of mitochondrial porin.

Hironori Takeda, Saori Shinoda, Chiho Goto

|May 20, 2025
Combining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes.

Marie Goret, Evelina Edelweiss, Jérémy Jehl

|Mar 05, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Sophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi

|Nov 28, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Efil Bayam, Peggy Tilly, Stephan C Collins

|Mar 23, 2021
Cex1 is a component of the COPI intracellular trafficking machinery.

Ludovic Enkler, Bruno Rinaldi, Johan Owen de Craene

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