Laurence Calemard-Michel

Centre De Biologie Et Pathologie Est
Lyon, France

Last Updated: 09/26/2026

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Found 20 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

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.

Journal: Frontiers in genetics

Published: December 05, 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

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept.

Journal: Kidney international

Published: February 28, 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

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

Journal: Nefrologia

Published: May 22, 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

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Journal: Human mutation

Published: October 18, 2021

A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.

A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.

Journal: The international journal of biochemistry & cell biology

Published: July 08, 2019

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Journal: Scientific reports

Published: January 17, 2019

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Last Updated: 09/26/2026