Rita Menassa

Centre De Biologie Et Pathologie Est
Lyon, France

Last Updated: 09/26/2026

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Found 18 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

Adrenal Incidentaloma Revealing Unrecognized 21-Hydroxylase Deficiency: From Non-Classical to Late-Onset Classical Forms.

Adrenal Incidentaloma Revealing Unrecognized 21-Hydroxylase Deficiency: From Non-Classical to Late-Onset Classical Forms.

Journal: Annales d'endocrinologie

Published: February 22, 2026

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Journal: Muscle & nerve

Published: September 08, 2025

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

A Recurrent Splice Variant Sheds Light on 11β-Hydroxylase Deficiency in a Unique Large Cohort.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 28, 2025

Defining the landscape of TIA1 and SQSTM1 digenic myopathy.

Defining the landscape of TIA1 and SQSTM1 digenic myopathy.

Journal: Neuromuscular disorders : NMD

Published: April 22, 2024

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: November 14, 2023

Muscular phenotype description of abnormal THOC2 splicing.

Muscular phenotype description of abnormal THOC2 splicing.

Journal: Neuromuscular disorders : NMD

Published: August 02, 2023

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

Journal: Brain : a journal of neurology

Published: July 06, 2023

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

Journal: Genes

Published: October 26, 2022

Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.

Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: July 28, 2022

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.

Journal: European journal of endocrinology

Published: September 29, 2021

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Journal: Journal of neuromuscular diseases

Published: March 22, 2021

Showing 1-12 of 18

Last Updated: 09/26/2026