| scholarly article | Q13442814 |
| P819 | ADS bibcode | 2003PNAS..100.7377T |
| P356 | DOI | 10.1073/PNAS.1230273100 |
| P8608 | Fatcat ID | release_zmdvpyz3tfc7jihl3rplibstgm |
| P932 | PMC publication ID | 165883 |
| P698 | PubMed publication ID | 12766226 |
| P5875 | ResearchGate publication ID | 10744186 |
| P50 | author | Kinji Ohno | Q37370712 |
| P2093 | author name string | Stephen C Cannon | |
| Akira Tsujino | |||
| Andrew G Engel | |||
| Xin-Ming Shen | |||
| Chantal Maertens | |||
| Taku Fukuda | |||
| C Michael Harper | |||
| P2860 | cites work | An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs | Q22066003 |
| Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit | Q24306667 | ||
| Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans | Q24612220 | ||
| Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel | Q28210170 | ||
| The genomic structure of the human skeletal muscle sodium channel gene | Q28213631 | ||
| Genomic organization of the human skeletal muscle sodium channel gene | Q28263185 | ||
| Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit | Q28286768 | ||
| Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita | Q30501632 | ||
| Extra-long first-strand cDNA synthesis | Q31058997 | ||
| Voltage-gated ion channels and hereditary disease | Q33744648 | ||
| Safety factor at the neuromuscular junction | Q34199050 | ||
| An expanding view for the molecular basis of familial periodic paralysis | Q34738564 | ||
| The spectrum of congenital myasthenic syndromes. | Q34995084 | ||
| Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro | Q36004026 | ||
| Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker | Q36411785 | ||
| The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation. | Q40907023 | ||
| Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation | Q41608443 | ||
| Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate | Q42674767 | ||
| Sodium channel slow inactivation and the distribution of sodium channels on skeletal muscle fibres enable the performance properties of different skeletal muscle fibre types | Q47917872 | ||
| Congenital myasthenic syndromes: I. Deficiency and short open-time of the acetylcholine receptor. | Q54039152 | ||
| Amplification of neuromuscular transmission by postjunctional folds. | Q54188878 | ||
| A reinterpretation of mammalian sodium channel gating based on single channel recording | Q59062717 | ||
| Synaptic vesicle abnormality in familial infantile myasthenia | Q63457047 | ||
| Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model | Q67011184 | ||
| Congenital myasthenic syndromes | Q69005097 | ||
| Distribution of Na+ channels and ankyrin in neuromuscular junctions is complementary to that of acetylcholine receptors and the 43 kd protein | Q69364556 | ||
| CLINICAL AND ELECTROMYOGRAPHIC STUDIES IN A PATIENT WITH PRIMARY HYPOKALEMIC PERIODIC PARALYSIS | Q78278026 | ||
| P433 | issue | 12 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Sodium voltage-gated channel alpha subunit 4 | Q6981557 |
| regulation of skeletal muscle contraction by action potential | Q22300060 | ||
| P304 | page(s) | 7377-7382 | |
| P577 | publication date | 2003-05-23 | |
| P1433 | published in | Proceedings of the National Academy of Sciences of the United States of America | Q1146531 |
| P1476 | title | Myasthenic syndrome caused by mutation of the SCN4A sodium channel | |
| P478 | volume | 100 |
| Q30584867 | A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia |
| Q36516769 | A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. |
| Q36018004 | Are there non-catalytic functions of acetylcholinesterases? Lessons from mutant animal models |
| Q28082428 | Channelopathies of skeletal muscle excitability |
| Q33590751 | Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy |
| Q37727997 | Clinical aspects of myasthenia explained |
| Q89072864 | Congenital Myasthenic Syndromes in 2018 |
| Q57175154 | Congenital Myasthenic Syndromes: a Clinical and Treatment Approach |
| Q36532526 | Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. |
| Q37283738 | Congenital myasthenic syndrome with episodic apnea |
| Q47695307 | Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients |
| Q64102614 | Congenital myasthenic syndromes |
| Q79085539 | Congenital myasthenic syndromes |
| Q81651278 | Congenital myasthenic syndromes |
| Q34407051 | Congenital myasthenic syndromes in 2012. |
| Q28082722 | Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment |
| Q44807712 | Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation |
| Q36904999 | Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission |
| Q35718489 | Current status of the congenital myasthenic syndromes |
| Q35878466 | Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. |
| Q99567798 | Discovery of Vixotrigine: A Novel Use-Dependent Sodium Channel Blocker for the Treatment of Trigeminal Neuralgia |
| Q55176457 | Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. |
| Q81651259 | Electromyographic aspects of neuromuscular junction disorders |
| Q42593276 | Endomicroscopy and electromyography of neuromuscular junctions in situ |
| Q38754629 | Functional consequences and structural interpretation of mutations of human choline acetyltransferase. |
| Q93043673 | Genetic Causes of Craniosynostosis: An Update |
| Q57073399 | Homozygosity for Arg1142Gln causes congenital myopathy with variable disease expression |
| Q55512224 | Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4. |
| Q41273672 | Hypokalemic periodic paralysis: an omega pore mutation affects inactivation |
| Q28115635 | Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea |
| Q80863131 | In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia |
| Q33905815 | Inherited disorders of voltage-gated sodium channels |
| Q90563916 | Italian recommendations for diagnosis and management of congenital myasthenic syndromes |
| Q49527986 | Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations |
| Q36615476 | Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. |
| Q39552491 | Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder |
| Q36967712 | Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis |
| Q90110243 | Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches |
| Q40029298 | Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. |
| Q37098005 | Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome |
| Q64120540 | Myasthenic congenital myopathy from recessive mutations at a single residue in Na1.4 |
| Q36068350 | Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating |
| Q89965045 | Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A |
| Q82029861 | Myotonic disorders |
| Q30600757 | Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis |
| Q52624335 | Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis. |
| Q82029865 | Periodic paralysis |
| Q26772794 | Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison |
| Q92803769 | Possible role of SCN4A skeletal muscle mutation in apnea during seizure |
| Q34716758 | Primary periodic paralyses |
| Q28303306 | Recent advances in Cys-loop receptor structure and function |
| Q42645829 | Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617. |
| Q37218052 | Reliability of neuromuscular transmission and how it is maintained |
| Q36302123 | SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy |
| Q34569783 | Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating |
| Q38698910 | Skeletal muscle na channel disorders |
| Q92589002 | Skeletal muscle: A review of molecular structure and function, in health and disease |
| Q49908047 | Sodium Channelopathies of Skeletal Muscle. |
| Q37711046 | Sodium channelopathies of skeletal muscle result from gain or loss of function |
| Q48120363 | Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses |
| Q64282363 | Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome |
| Q38066723 | The Na(V)1.7 sodium channel: from molecule to man. |
| Q36272858 | The primary periodic paralyses: diagnosis, pathogenesis and treatment |
| Q36774720 | The therapy of congenital myasthenic syndromes |
| Q37329521 | Therapeutic strategies in congenital myasthenic syndromes |
| Q37329554 | Treatment of neuromuscular channelopathies: current concepts and future prospects |
| Q91555734 | Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism |
| Q88635338 | WITHDRAWN: Genetics update: Monogenetics, polygene disorders and the quest for modifying genes |
| Q37188305 | When all is lost…a severe myopathy with hypotonia from sodium channel mutations |
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