Francois Rivier

Montpellier, France

Last Updated: 09/26/2026

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Found 85 publications

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy.

Journal: HGG advances

Published: June 02, 2026

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

The 2026 version of the gene table of neuromuscular disorders (nuclear genome).

The 2026 version of the gene table of neuromuscular disorders (nuclear genome).

Journal: Neuromuscular disorders : NMD

Published: December 25, 2025

Prevalence of pediatric neuromuscular disorders in the Southwest region of France.

Prevalence of pediatric neuromuscular disorders in the Southwest region of France.

Journal: Neuromuscular disorders : NMD

Published: May 27, 2025

The 2025 version of the gene table of neuromuscular disorders (nuclear genome).

The 2025 version of the gene table of neuromuscular disorders (nuclear genome).

Journal: Neuromuscular disorders : NMD

Published: January 31, 2025

Brain glucose metabolism as a neuronal substrate of the abnormal behavioral response to stress in the mdx mouse, a model of Duchenne muscular dystrophy.

Brain glucose metabolism as a neuronal substrate of the abnormal behavioral response to stress in the mdx mouse, a model of Duchenne muscular dystrophy.

Journal: Neurobiology of disease

Published: November 20, 2024

Distinguishing atypical focal areas of signal intensity from probable low-grade gliomas in the posterior fossa of children with neurofibromatosis type 1.

Distinguishing atypical focal areas of signal intensity from probable low-grade gliomas in the posterior fossa of children with neurofibromatosis type 1.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: November 09, 2024

The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.

The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.

Journal: International journal of molecular sciences

Published: February 09, 2024

The 2024 version of the gene table of neuromuscular disorders (nuclear genome).

The 2024 version of the gene table of neuromuscular disorders (nuclear genome).

Journal: Neuromuscular disorders : NMD

Published: January 22, 2024

Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.

Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.

Journal: Developmental medicine and child neurology

Published: April 14, 2023

Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.

Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.

Journal: Journal of cachexia, sarcopenia and muscle

Published: March 27, 2023

The 2023 version of the gene table of neuromuscular disorders (nuclear genome).

The 2023 version of the gene table of neuromuscular disorders (nuclear genome).

Journal: Neuromuscular disorders : NMD

Published: January 25, 2023

Showing 1-12 of 85

Last Updated: 09/26/2026