John Rendu

Grenoble, France

Last Updated: 09/26/2026

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Found 82 publications

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

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

Drosophila ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human RYR1 mutations.

Drosophila ryanodine receptor gene triggers functional and developmental muscle properties and could be used to assess the impact of human RYR1 mutations.

Journal: eLife

Published: May 13, 2026

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.

Journal: Neurogastroenterology and motility

Published: January 31, 2026

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.

Journal: Neurogastroenterology and motility

Published: January 31, 2026

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

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

Journal: Human mutation

Published: January 25, 2026

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Journal: Journal of neuromuscular diseases

Published: November 18, 2025

Histogenetic Classification Predicts Outcomes in 130 Adults with Chronic Intestinal Pseudo-Obstruction.

Histogenetic Classification Predicts Outcomes in 130 Adults with Chronic Intestinal Pseudo-Obstruction.

Journal: The American journal of gastroenterology

Published: October 27, 2025

Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Journal: Neurology. Genetics

Published: October 10, 2025

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

Journal: Journal of neuromuscular diseases

Published: September 19, 2025

Phenotype-specific muscle proteomic profiling in titinopathies.

Phenotype-specific muscle proteomic profiling in titinopathies.

Journal: Acta neuropathologica communications

Published: September 12, 2025

Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.

Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 29, 2025

A De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report.

A De Novo Variant in NALCN Associated With Arthrogryposis and Neonatal Respiratory Failure: A Case Report.

Journal: Pediatric pulmonology

Published: August 24, 2025

Showing 1-12 of 82

Last Updated: 09/26/2026