Neuromuscular disorders (NMDs) are a wide-ranging group of diseases that seriously affect
the quality of life of affected individuals. The development of next-generation sequencing …

The diagnosis of neuromuscular diseases (NMDs) has been progressively evolving from the
grouping of clinical symptoms and signs towards the molecular definition. Optimal clinical …

Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide
range of the clinical and genetic spectrum. Whole‐exome sequencing (WES) has been on …

Objective Exome sequencing (ES)‐based diagnosis of Mendelian diseases in the fetus is
limited by paucity of phenotypic information. This study reports the comprehensive …

Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis
can be challenging. Over a 3-year period, we prospectively analyzed 268 pediatric and adult …

Abstract Background Neuromuscular disorders (NMDs) encompass a large group of genetic
and acquired diseases affecting muscles, leading to progressive muscular weakness. These …

Diagnosis of neuromuscular diseases (NMD) can be challenging because of the
heterogeneity of this group of diseases. This review aimed to describe the diagnostic yield of …

Glioblastoma is a malignant brain cancer with limited treatment options and high mortality
rate. While established glioblastoma cell line models provide valuable information, they …

Hereditary myopathies are a heterogeneous disorder known to be associated with more
than 100 genes. Although hereditary myopathy subgroups can be partially described with …

Résumé Les maladies neuromusculaires congénitales, en particulier les dystrophies
musculaires congénitales (DMC) et les myopathies congénitales (MC), sont un groupe de …