Associated Papers
Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.
Wang X et al.
Italian Journal of Pediatrics, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y et al.
Channels (austin, Tex.), 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.
Chen PS 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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP et al.
Frontiers in Neurology, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP et al.
Journal of Genetics, 2019
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Ferradini V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
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
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
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
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
Functional studies of the effect of NO donor on human CLCN1 polymorphism/mutants expressed in Xenopus laevis oocytes.
Lin MJ et al.
Biochemical and Biophysical Research Communications, 2008
Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.
Lin MJ et al.
Biochemical and Biophysical Research Communications, 2006
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
Jou SB et al.
Journal of Neurology, 2004
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.
Zhang J et al.
The Journal of Biological Chemistry, 2000
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Kubisch C et al.
Human Molecular Genetics, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
George AL et al.
Human Molecular Genetics, 1994
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