Results 191 to 200 of about 16,843 (240)
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 1999 openaire +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Nature, 2002
Genetic alterations of various ion channels produce heritable cardiac arrhythmias that predispose affected individuals to sudden death. The investigation of such 'channelopathies' continues to yield remarkable insights into the molecular basis of cardiac excitability.
Eduardo Marbán
exaly +3 more sources
Genetic alterations of various ion channels produce heritable cardiac arrhythmias that predispose affected individuals to sudden death. The investigation of such 'channelopathies' continues to yield remarkable insights into the molecular basis of cardiac excitability.
Eduardo Marbán
exaly +3 more sources
2023
CaV3.3 is the third member of the low-voltage-activated calcium channel family and the last to be recognized as disease gene. Previously, CACNA1I, the gene encoding CaV3.3, had been described as schizophrenia risk gene. More recently, de novo missense mutations in CACNA1I were identified in patients with variable degrees of neurodevelopmental disease ...
Yousra, El Ghaleb, Bernhard E, Flucher
openaire +2 more sources
CaV3.3 is the third member of the low-voltage-activated calcium channel family and the last to be recognized as disease gene. Previously, CACNA1I, the gene encoding CaV3.3, had been described as schizophrenia risk gene. More recently, de novo missense mutations in CACNA1I were identified in patients with variable degrees of neurodevelopmental disease ...
Yousra, El Ghaleb, Bernhard E, Flucher
openaire +2 more sources
Neuropharmacology, 1997
The molecular diversity of K(+)-selective channels far exceeds any other group of voltage- or ligand-gated channels, reflecting their early ancestral origin. This diversity is mirrored by the broad spectrum of physiological functions subserved by these proteins. Potassium channels modulate the resting potential and action potential duration of neurons,
M C, Sanguinetti, P S, Spector
openaire +2 more sources
The molecular diversity of K(+)-selective channels far exceeds any other group of voltage- or ligand-gated channels, reflecting their early ancestral origin. This diversity is mirrored by the broad spectrum of physiological functions subserved by these proteins. Potassium channels modulate the resting potential and action potential duration of neurons,
M C, Sanguinetti, P S, Spector
openaire +2 more sources
Continuum, 2022
This article describes the clinical features, diagnosis, pathophysiology, and management of nondystrophic myotonia and periodic paralysis.An increasing awareness exists about the genotype-phenotype overlap in skeletal muscle channelopathies, and thus genetic testing is needed to make a definitive diagnosis.
openaire +2 more sources
This article describes the clinical features, diagnosis, pathophysiology, and management of nondystrophic myotonia and periodic paralysis.An increasing awareness exists about the genotype-phenotype overlap in skeletal muscle channelopathies, and thus genetic testing is needed to make a definitive diagnosis.
openaire +2 more sources
Current Treatment Options in Neurology, 2000
In patients with mutations in the genes that encode the chloride, sodium, and calcium channels in skeletal muscle, there is abnormal function of the muscle membrane, which can cause myotonia or attacks of weakness. Mutations in the chloride and sodium channels can lead to myotonia, which typically begins in early childhood.
openaire +3 more sources
In patients with mutations in the genes that encode the chloride, sodium, and calcium channels in skeletal muscle, there is abnormal function of the muscle membrane, which can cause myotonia or attacks of weakness. Mutations in the chloride and sodium channels can lead to myotonia, which typically begins in early childhood.
openaire +3 more sources
Pflügers Archiv - European Journal of Physiology, 2010
KV7 voltage-gated potassium channels, encoded by the KCNQ gene family, have caught increasing interest of the scientific community for their important physiological roles, which are emphasized by the fact that four of the five so far identified members are related to different hereditary diseases.
Snezana, Maljevic +3 more
openaire +2 more sources
KV7 voltage-gated potassium channels, encoded by the KCNQ gene family, have caught increasing interest of the scientific community for their important physiological roles, which are emphasized by the fact that four of the five so far identified members are related to different hereditary diseases.
Snezana, Maljevic +3 more
openaire +2 more sources
2023
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis,
Vinojini, Vivekanandam +2 more
openaire +2 more sources
Muscle channelopathies encompass a wide range of mainly episodic conditions that are characterized by muscle stiffness and weakness. The myotonic conditions, characterized predominantly by stiffness, include myotonia congenita, paramyotonia congenita, and sodium channel myotonia. The periodic paralysis conditions include hypokalemic periodic paralysis,
Vinojini, Vivekanandam +2 more
openaire +2 more sources