A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Martin Krahn, Valérie Biancalana, Mathieu Cérino, +21

European Journal of Human Genetics

Mendelian DisorderMedicineGeneticsNext-generation SequencingGenetic Epidemiology +11

Novel <i>CAPN3</i> variant associated with an autosomal dominant calpainopathy

Mathieu Cérino, Emmanuelle Salort‐Campana, Alexandra Salvi, +16

Neuropathology and Applied Neurobiology

The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions

Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, +5

Frontiers in Cell and Developmental Biology

Motor axonal neuropathy associated with <scp><i>GNE</i></scp> mutations

Nicolae Grecu, Luísa Villa, Michele Cavalli, +8

Muscle & Nerve

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Svetlana Gorokhova, Mathieu Cérino, Yves Mathieu, +6

Applied & Translational Genomics

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

Théo Charnay, Véronique Blanck, Mathieu Cérino, +8

Genetics in Medicine

EpidemiologyLarge French SeriesGenetic EpidemiologyDiagnosisDysferlinopathy Patients +3

Clinical heterogeneity and phenotype/genotype findings in 5 families with <i>GYG1</i> deficiency

Rabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, +20

Neurology Genetics

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

Mathieu Cérino, Svetlana Gorokhova, Anthony Béhin, +7

Journal of Neuromuscular Diseases

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

Jérémie Mortreux, Juliette Bacquet, Anthony Boyer, +17

Journal of Human Genetics

Molecular Diagnostic TechniquesCharcot-marie-tooth DiseasePathogenesisPathologyPathogen Characterization +3

A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, +15

Genes

Gene ListGeneticsDiagnosisPathologyCharcot–marie–tooth Disease +18