Associated Papers
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
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
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y et al.
Channels (austin, Tex.), 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-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 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
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP et al.
Frontiers in Neurology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
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
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
ClC-1 chloride channels: state-of-the-art research and future challenges.
Imbrici P et al.
Frontiers in Cellular Neuroscience, 2015
Myotonia congenita: novel mutations in CLCN1 gene.
Liu XL et al.
Channels (austin, Tex.), 2015
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Tan SV et al.
Muscle & Nerve, 2014
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
Richardson RC et al.
Muscle & Nerve, 2014
CLC channel function and dysfunction in health and disease.
Stölting G et al.
Frontiers in Physiology, 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
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Horga A et al.
Neurology, 2013
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Lakraj AA et al.
The Yale Journal of Biology and Medicine, 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
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Tan SV et al.
Annals of Neurology, 2011
Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
Bernard G et al.
Journal of Child Neurology, 2008
Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
Chang TY et al.
Acta Neurologica Taiwanica, 2007
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
Anion pathway and potential energy profiles along curvilinear bacterial ClC Cl- pores: electrostatic effects of charged residues.
Miloshevsky GV et al.
Biophysical Journal, 2004
Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
Grunnet M et al.
Muscle & Nerve, 2003
Involvement of helices at the dimer interface in ClC-1 common gating.
Duffield M et al.
The Journal of General Physiology, 2003
A novel alteration of muscle chloride channel gating in myotonia levior.
Ryan A et al.
The Journal of Physiology, 2002
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Wu FF et al.
Brain : a Journal of Neurology, 2002
The myotonia congenita mutation A331T confers a novel hyperpolarization-activated gate to the muscle chloride channel ClC-1.
Warnstedt M et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2002
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
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
Ion permeation and selectivity in ClC-type chloride channels.
Fahlke C
American Journal of Physiology. Renal Physiology, 2001
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Sasaki R et al.
Muscle & Nerve, 2001
Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.
Tagawa K et al.
Human Molecular Genetics, 2000
Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.
Fahlke C
Kidney International, 2000
Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
Zhang J et al.
Neurology, 2000