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
Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia.
Gaitán-Peñas H et al.
The Journal of Physiology, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
Brenes O et al.
Biomedicines, 2023
Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
Landim JID et al.
Bmc Neurology, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
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
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
Pagliarani S et al.
Frontiers in Neurology, 2022
Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.
Souza LS et al.
Journal of Molecular Neuroscience : Mn, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
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
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
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events.
Cea G et al.
Wellcome Open Research, 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
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Männikkö R et al.
Lancet (london, England), 2018
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Ferradini V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
Vindas-Smith R et al.
Human Mutation, 2016
Novel N-terminal truncating CLCN1 mutation in severe Becker disease.
Hoche F et al.
Muscle & Nerve, 2014
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Furby A et al.
Neuromuscular Disorders : Nmd, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Tan SV 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
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
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
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Tan SV et al.
Annals of Neurology, 2011
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Dupré N et al.
Neuromuscular Disorders : Nmd, 2009
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D et al.
Brain : a Journal of Neurology, 2007
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
Estévez R et al.
Neuron, 2003
CLC chloride channels: correlating structure with function.
Estévez R et al.
Current Opinion in Structural Biology, 2002
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
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
Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
Wollnik B et al.
Human Molecular Genetics, 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