Bruno Rinaldi
Strasbourg, 67000, France
Last Updated: 09/26/2026
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Found 17 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
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
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
Journal: The Journal of experimental medicine
Published: December 03, 2019
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.
Journal: Journal of neurology
Published: August 23, 2018
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Journal: Human mutation
Published: March 19, 2018
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: October 29, 2017
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Journal: Human molecular genetics
Published: March 05, 2017
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
Journal: The Journal of clinical investigation
Published: September 06, 2016
Last Updated: 09/26/2026