Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report.
Ogueri V et al.
Journal of Medical Case Reports, 2025
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.
Sadakierska-Chudy A et al.
International Urogynecology Journal, 2025
Role of voltage-gated chloride channels in epilepsy: current insights and future directions.
Ni MM et al.
Frontiers in Pharmacology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.
Ilic N et al.
Genes, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
Marinakis NM et al.
Muscle & Nerve, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W et al.
Neurogenetics, 2024
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Periviita V et al.
Journal of Neurology, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.
Lucchiari S et al.
Frontiers in Genetics, 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Parent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2.
Gonzalez-Perez P et al.
Neurology. Genetics, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Öz Tunçer G et al.
Journal of Neuromuscular Diseases, 2023
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y et al.
Channels (austin, Tex.), 2022
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Radziwonik W et al.
Journal of Applied Genetics, 2022
A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.
Komachali SR et al.
Genomics & Informatics, 2022
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 2022
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov IE et al.
European Journal of Medical Genetics, 2022
Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita.
Altamura C et al.
Frontiers in Pharmacology, 2022
Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family.
Musa NH et al.
Frontiers in Genetics, 2022
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
Locci S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
van Eyk CL et al.
Npj Genomic Medicine, 2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.
Radvanszky J et al.
Journal of Clinical Medicine, 2021
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Hu C et al.
Frontiers in Pediatrics, 2021
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Skeletal muscle ClC-1 chloride channels in health and diseases.
Altamura C et al.
Pflugers Archiv : European Journal of Physiology, 2020
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.
Jeng CJ et al.
Frontiers in Neurology, 2020
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP et al.
Frontiers in Neurology, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia.
Altamura C et al.
Frontiers in Neurology, 2020