Results 51 to 60 of about 1,294 (180)
Ion channels: structural basis for function and disease. [PDF]
, 1996 Ion channels are ubiquitous proteins that mediate nervous and muscular function, rapid transmembrane signaling events, and ionic and fluid balance. The cloning of genes encoding ion channels has led to major strides in understanding the mechanistic basis
Goldstein, SA
core +1 more source
Voltage-gated sodium channels (NaV) in GtoPdb v.2023.1 [PDF]
, 2023 Sodium channels are voltage-gated sodium-selective ion channels present in the membrane of most excitable cells. Sodium channels comprise of one pore-forming α subunit, which may be associated with either one or two β subunits [179].
Catterall, William A. +2 more
core +2 more sources
Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. [PDF]
, 1996 Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness ...
Brown, RH, Cannon, SC, Hayward, LJ
core
Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]
, 2015 Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
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International Journal of Pediatrics, Volume 2025, Issue 1, 2025.Rationale: Young people with neuromuscular diseases (NMDs) are especially at risk of being absent from school because of various symptoms, consequences of their disease, and frequent hospital visits. Growing up with a chronic disease can entail an increased risk of poor educational outcomes. Aims: The study is aimed to investigate factors of importance
Charlotte Handberg +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard +17 more
wiley +1 more source
Muscle &Nerve, Volume 70, Issue 2, Page 240-247, August 2024.Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage‐gated chloride channel 1 (CLCN1) gene, important for the normal ...
Nikolaos M. Marinakis +12 more
wiley +1 more source
A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A [PDF]
Annals of Child Neurology, 2022 Yoo Jung Lee, Yoon Hee Jo, Young Mi Kim
doaj +1 more source
Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases
MedComm, Volume 5, Issue 7, July 2024.The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng +2 more
wiley +1 more source
Periodic paralysis: anatomo-pathology of skeletal muscle of 14 patients [PDF]
, 1994 Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.
Gabbai, Alberto Alain +5 more
core +3 more sources