Associated Papers
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
Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.
Elaraby NM et al.
Molecular Biology Reports, 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Öz Tunçer G et al.
Journal of Neuromuscular Diseases, 2023
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 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
First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.
Olave-Rodriguez JA et al.
The Application of Clinical Genetics, 2021
Skeletal muscle ClC-1 chloride channels in health and diseases.
Altamura C et al.
Pflugers Archiv : European Journal of Physiology, 2020
Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita.
Jeng CJ et al.
Frontiers in Neurology, 2020
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Zhao C et al.
Plos One, 2020
A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.
Araújo CET et al.
Scientific Reports, 2019
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.
Elia N et al.
Neurology, 2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane.
Peng YJ et al.
International Journal of Molecular Sciences, 2018
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
CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia.
Gaitán-Peñas H et al.
Muscle & Nerve, 2018
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Ferradini V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Advances in assessing myotonia: Can sensor-engineered glove have a role?
Portaro S et al.
Journal of the Neurological Sciences, 2017
Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β.
Peng YJ et al.
Scientific Reports, 2016
The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels.
Chen YA et al.
Scientific Reports, 2015
ClC-1 chloride channels: state-of-the-art research and future challenges.
Imbrici P et al.
Frontiers in Cellular Neuroscience, 2015
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
Richardson RC et al.
Muscle & Nerve, 2014
Nondystrophic myotonia: challenges and future directions.
Trivedi JR et al.
Experimental Neurology, 2014
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.
Desaphy JF et al.
Experimental Neurology, 2013
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
Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.
Lee TT et al.
Plos One, 2013
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
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Matthews E et al.
Brain : a Journal of Neurology, 2010
Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.
Platt D et al.
Current Opinion in Neurology, 2009
Chloride channelopathies.
Planells-Cases R et al.
Biochimica Et Biophysica Acta, 2009
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
Suominen T et al.
Journal of Neurology, 2008
F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.
Papponen H et al.
Muscle & Nerve, 2008
Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
Bernard G et al.
Journal of Child Neurology, 2008
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
Sun C et al.
European Journal of Human Genetics : Ejhg, 2001
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Sasaki R et al.
Muscle & Nerve, 2001
Founder mutations and the high prevalence of myotonia congenita in northern Finland.
Papponen H et al.
Neurology, 1999
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0