ArticleGenetics and molecular biology
Neuromuscular disorders: genes, genetic counseling and therapeutic trials.
Article in Genetics and molecular biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Electronic Devices and Digital Therapeutics in Neuromuscular Diseases: Narrative Review on Current Applications in Patients' Management and Pharmacovigilance.Health care science · 2026Review
- Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Journal of neurology · 2026Article
- NovelVeterinary and animal science · 2026Article
- Expanding the clinical phenotype associated with an ASXL1 pathogenic variant causing a novel neuromuscular disorder with neurodevelopmental features.BMJ neurology open · 2026Article
- Universal Proteomic Signature After Exercise-Induced Muscle Injury in Muscular Dystrophies.Annals of clinical and translational neurology · 2025Article
- NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.Clinical genetics · 2025Article
- NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.Frontiers in neuroscience · 2025Article
- Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.Scientific reports · 2024Article
- Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels.Children (Basel, Switzerland) · 2024Article
- Sexual dimorphisms in skeletal muscle: current concepts and research horizons.Journal of applied physiology (Bethesda, Md. : 1985) · 2024Review
- The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.Orphanet journal of rare diseases · 2024Article
- Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens.Journal of personalized medicine · 2023Article
- Long-read sequencing improves diagnostic rate in neuromuscular disorders.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
- Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea.Annals of laboratory medicine · 2022Review
- MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.Molecular genetics & genomic medicine · 2021Article
- Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.Diagnostics (Basel, Switzerland) · 2021Review
- A well-tolerated core needle muscle biopsy process suitable for children and adults.Muscle & nerve · 2020Article
- Is it the right time for an infant screening for Duchenne muscular dystrophy?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea.Annals of laboratory medicine · 2020Article
- Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.Channels (Austin, Tex.) · 2019Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.
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Registered trials
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