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Last Updated: 03/06/2025

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Found 1136 publications

Carbamazepine treatment of myotonia congenita in a cat.

Carbamazepine treatment of myotonia congenita in a cat.

Journal: JFMS open reports
Published: December 02, 2024

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1.

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1.

Journal: Animals : an open access journal from MDPI
Published: November 09, 2024

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.

Journal: Frontiers in genetics
Published: August 29, 2024

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia.

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia.

Journal: Frontiers in veterinary science
Published: August 23, 2024

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.

Journal: International journal of molecular sciences
Published: July 31, 2024

Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors.

Mouse models of non-dystrophic and dystrophic myotonia exhibit nociplastic pain-like behaviors.

Journal: bioRxiv : the preprint server for biology
Published: July 01, 2024

The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy.

The Accordion Zebrafish tq206 Mutant in the Assessment of a Novel Pharmaceutical Approach to Brody Myopathy.

Journal: International journal of molecular sciences
Published: June 28, 2024

BK channels promote action potential repolarization in skeletal muscle but contribute little to myotonia.

BK channels promote action potential repolarization in skeletal muscle but contribute little to myotonia.

Journal: Pflugers Archiv : European journal of physiology
Published: June 19, 2024

Clinical and genetic characteristics of myotonia congenita in Chinese population.

Clinical and genetic characteristics of myotonia congenita in Chinese population.

Journal: Channels (Austin, Tex.)
Published: May 09, 2024

Preclinical study of the antimyotonic efficacy of safinamide in the myotonic mouse model.

Preclinical study of the antimyotonic efficacy of safinamide in the myotonic mouse model.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: May 07, 2024

Reduced K+ build-up in t-tubules contributes to resistance of the diaphragm to myotonia.

Reduced K+ build-up in t-tubules contributes to resistance of the diaphragm to myotonia.

Journal: The Journal of physiology
Published: May 06, 2024

A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene

A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene

Journal: Rinsho shinkeigaku = Clinical neurology
Published: April 21, 2024
Showing 1-12 of 1,136

Last Updated: 03/06/2025