Associated Papers
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
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Lehmann-Horn F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
Lee SC et al.
Journal of Clinical Neurology (seoul, Korea), 2009
Human skeletal muscle sodium channelopathies.
Vicart S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
Correlating phenotype and genotype in the periodic paralyses.
Miller TM et al.
Neurology, 2004
Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Kinoshita M et al.
Internal Medicine (tokyo, Japan), 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Molecular diversity of structure and function of the voltage-gated Na+ channels.
Ogata N et al.
Japanese Journal of Pharmacology, 2002
Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.
Kim J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF et al.
Neurology, 2001
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.
Davies NP et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2000
Fast- and slow-gating modes of the sodium channel are altered by a paramyotonia congenita-linked mutation.
Moran O et al.
Journal of Bioenergetics and Biomembranes, 1998
The familial periodic paralyses and nondystrophic myotonias.
Ptácek L
The American Journal of Medicine, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995.
Rüdel R et al.
Neuromuscular Disorders : Nmd, 1997
Phenotype variation and newcomers in ion channel disorders.
Bulman DE
Human Molecular Genetics, 1997
Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms.
George AL
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 1996
Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.
Hayward LJ et al.
The Journal of General Physiology, 1996
Paramyotonia congenita mutations reveal different roles for segments S3 and S4 of domain D4 in hSkM1 sodium channel gating.
Ji S et al.
The Journal of General Physiology, 1996
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
The skeletal muscle sodium and chloride channel diseases.
Hudson AJ et al.
Brain : a Journal of Neurology, 1995
Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
Yang N et al.
Proceedings of the National Academy of Sciences of the United States of America, 1994
A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
Heine R et al.
Human Molecular Genetics, 1993
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany.
Lehmann-Horn F et al.
Neuromuscular Disorders : Nmd, 1993
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
Ptacek LJ et al.
Annals of Neurology, 1993
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.
Tahmoush AJ et al.
Neuromuscular Disorders : Nmd, 0