Nicole Monnier

Grenoble, 38000, France

Last Updated: 09/26/2026

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Found 20 publications

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.

TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 21, 2018

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Journal: Journal of neuromuscular diseases

Published: November 19, 2016

Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test.

Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test.

Journal: British journal of anaesthesia

Published: March 20, 2016

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

Journal: Neuromuscular disorders : NMD

Published: September 04, 2014

Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.

Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.

Journal: Allergy

Published: August 12, 2014

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.

Journal: International archives of allergy and immunology

Published: May 28, 2014

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: May 16, 2014

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Journal: American journal of medical genetics. Part A

Published: April 01, 2014

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Journal: Human molecular genetics

Published: December 10, 2013

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Journal: Human mutation

Published: September 13, 2013

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Journal: Human gene therapy

Published: June 29, 2013

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Journal: Neurology

Published: April 05, 2013

Showing 1-12 of 20

Last Updated: 09/26/2026