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
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
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.
Jacobsen LN et al.
European Journal of Neurology, 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
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
[Congenital myotonia. Incidence and presentation of a series of cases].
Martos-Lirio MF et al.
Revista De Neurologia, 2023
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Öz Tunçer G et al.
Journal of Neuromuscular Diseases, 2023
Association of protein function-altering variants with cardiometabolic traits: the strong heart study.
Shan Y et al.
Scientific Reports, 2022
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Suetterlin K et al.
Brain : a Journal of Neurology, 2022
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Hu C et al.
Frontiers in Pediatrics, 2021
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.
Orsini C et al.
Frontiers in Neurology, 2020
Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias.
Modoni A et al.
Frontiers in Neurology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP et al.
Journal of Genetics, 2019
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Altamura C et al.
Human Mutation, 2018
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Ferradini V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
Ronstedt K et al.
Scientific Reports, 2015
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.
Lo Monaco M et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2015
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.
Ardissone A et al.
Muscle & Nerve, 2014
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
Brugnoni R et al.
Journal of Human Genetics, 2013
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Morrow JM et al.
Neuromuscular Disorders : Nmd, 2013
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D et al.
Plos One, 2013
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Ivanova EA et al.
Genetika, 2012
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Mazón MJ et al.
Neuromuscular Disorders : Nmd, 2012
Moroccan consanguineous family with Becker myotonia and review.
Ratbi I et al.
Annals of Indian Academy of Neurology, 2011
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Modoni A et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2011
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Tan SV et al.
Annals of Neurology, 2011
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
Trip J et al.
European Journal of Human Genetics : Ejhg, 2008
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders.
Michel P et al.
Muscle & Nerve, 2007
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
Sun C et al.
European Journal of Human Genetics : Ejhg, 2001
Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.
Brugnoni R et al.
Human Mutation, 1999
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0