Associated Papers
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
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Öz Tunçer G et al.
Journal of Neuromuscular Diseases, 2023
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Hu C et al.
Frontiers in Pediatrics, 2021
Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Sasaki R et al.
Neuromuscular Disorders : Nmd, 2020
Thomsen disease with ptosis and abnormal MR findings.
Mori Y et al.
Neuromuscular Disorders : Nmd, 2016
[Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].
Sasaki R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Novel insights into the pathomechanisms of skeletal muscle channelopathies.
Burge JA et al.
Current Neurology and Neuroscience Reports, 2012
A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
Tsujino A et al.
Neuroscience Letters, 2011
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
Moon IS et al.
Journal of Korean Medical Science, 2009
Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
Bernard G et al.
Journal of Child Neurology, 2008
Phenotypic variability in myotonia congenita.
Colding-Jørgensen E
Muscle & Nerve, 2005
Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
Pusch M
Human Mutation, 2002
A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
Sasaki R et al.
Muscle & Nerve, 2001
[Molecular and genetic aspects of the myotonic conditions].
Morales Montero F et al.
Revista De Neurologia, 0
Myotonia in ion channel diseases of muscle.
Partanen J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 0
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