Associated Papers
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy.
Kodal LS et al.
European Journal of Neurology, 2025
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W et al.
Neurogenetics, 2024
Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.
Jacobsen LN et al.
European Journal of Neurology, 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
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 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
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Ferradini V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
Richardson RC 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
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
Ivanova EA et al.
Genetika, 2012
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
Raja Rayan DL et al.
Neurology, 2012
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Dupré N et al.
Neuromuscular Disorders : Nmd, 2009
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
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0