Associated Papers
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
37892996 (PubMed )
Supplement: biomedicines-11-02622-s001.zip › Supplementary_Table_S1_ClC-1_Brenes-Pusch-Morales.xlsx › Hoja1
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
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Tan SV et al.
Muscle & Nerve, 2014
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
Raja Rayan DL et al.
Neurology, 2012
Select a paper to view details