| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/S0072-9752(07)86003-9 |
| P698 | PubMed publication ID | 18808995 |
| P2093 | author name string | Frank Lehmann-Horn | |
| Karin Jurkat-Rott | |||
| P2860 | cites work | Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita | Q73111340 |
| A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene | Q73289009 | ||
| Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia | Q73321097 | ||
| Hypothyroidism unmasking proximal myotonic myopathy | Q73586488 | ||
| Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia | Q73592670 | ||
| A novel muscle sodium channel mutation causes painful congenital myotonia | Q73929323 | ||
| Transient weakness and compound muscle action potential decrement in myotonia congenita | Q77295407 | ||
| Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia | Q77628350 | ||
| Electrical myotonia in heterozygous carriers of recessive myotonia congenita | Q77779394 | ||
| Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies | Q78194326 | ||
| The skeletal muscle chloride channel in dominant and recessive human myotonia | Q24293083 | ||
| Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker | Q24529156 | ||
| Muscle channelopathies and critical points in functional and genetic studies | Q24532297 | ||
| A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation | Q24544294 | ||
| A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation | Q24544300 | ||
| Molecular basis for decreased muscle chloride conductance in the myotonic goat | Q24598557 | ||
| Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans | Q24651364 | ||
| Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A | Q24671768 | ||
| Myotonia as a side effect of diuretic action | Q24672621 | ||
| Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica | Q24672636 | ||
| Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans | Q24678177 | ||
| X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity | Q27637382 | ||
| Founder mutations and the high prevalence of myotonia congenita in northern Finland | Q28140979 | ||
| Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita | Q28208914 | ||
| Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita | Q28210343 | ||
| Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 | Q28210917 | ||
| Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation | Q28213733 | ||
| Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype | Q28236833 | ||
| Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis | Q28246479 | ||
| A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity | Q28252089 | ||
| A novel SCN4A mutation causing myotonia aggravated by cold and potassium | Q28256356 | ||
| Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle | Q28277370 | ||
| Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel | Q28292480 | ||
| Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene | Q28295730 | ||
| Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker) | Q29398418 | ||
| Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness | Q31056809 | ||
| Voltage-gated ion channels and hereditary disease | Q33744648 | ||
| Genetics and pathogenesis of malignant hyperthermia | Q33789806 | ||
| The 3' untranslated region of messenger RNA: A molecular 'hotspot' for pathology? | Q33903996 | ||
| Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita | Q34064967 | ||
| Myotonia caused by mutations in the muscle chloride channel gene CLCN1. | Q34122131 | ||
| Failure to induce malignant hyperthermia in myotonic goats. | Q51856699 | ||
| Clinical study of paramyotonia congenita with and without myotonia in a warm environment. | Q51866114 | ||
| Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. | Q53916920 | ||
| Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats | Q54685123 | ||
| Non-dystrophic myotonias and periodic paralyses | Q56804393 | ||
| Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance | Q56975000 | ||
| Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy | Q57085840 | ||
| Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts | Q59242144 | ||
| Electromyography guides toward subgroups of mutations in muscle channelopathies. | Q64945413 | ||
| Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding | Q67510312 | ||
| Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies | Q68845647 | ||
| Treatment of paramyotonia congenita with acetazolamide | Q69119906 | ||
| Membrane defects in paramyotonia congenita (Eulenburg) | Q69406285 | ||
| Muscle stiffness and electrical activity in paramyotonia congenita | Q69522165 | ||
| Paramyotonia and MH | Q70488823 | ||
| Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile) | Q70948382 | ||
| Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect | Q71656679 | ||
| Sodium channel inactivation is impaired in equine hyperkalemic periodic paralysis | Q71923752 | ||
| Myotonia fluctuans. A third type of muscle sodium channel disease | Q72855968 | ||
| Temperature-sensitive repetitive discharges in paramyotonia congenita | Q73089751 | ||
| Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family | Q73090013 | ||
| Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy | Q34142078 | ||
| Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing | Q34142085 | ||
| Ion permeation and selectivity in ClC-type chloride channels | Q34211948 | ||
| Myotonia levior is a chloride channel disorder. | Q34297165 | ||
| Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. | Q34324939 | ||
| Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion | Q34327010 | ||
| Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). | Q34327027 | ||
| Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita | Q34401708 | ||
| Linkage of proximal myotonic myopathy to chromosome 3q. | Q34489698 | ||
| Inactivation of muscle chloride channel by transposon insertion in myotonic mice | Q34510849 | ||
| Myasthenic syndrome caused by mutation of the SCN4A sodium channel | Q35163768 | ||
| Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current | Q35208537 | ||
| On the inhibition of muscle membrane chloride conductance by aromatic carboxylic acids | Q36408298 | ||
| Transient muscular weakness in severe recessive myotonia congenita. Improvement of isometric muscle force by drugs relieving myotomic stiffness | Q39511490 | ||
| Fenoterol precipitating myotonia in a minimally affected case of recessive myotonia congenita | Q39528986 | ||
| Adverse effects of drugs on muscle | Q40088505 | ||
| Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence | Q40428559 | ||
| Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360V. | Q40673389 | ||
| Role in fast inactivation of the IV/S4-S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis | Q41072366 | ||
| Myotonia fluctuans | Q41196666 | ||
| Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel | Q41312445 | ||
| K(+)-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation | Q41451911 | ||
| Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation | Q41491359 | ||
| Projection structure of a ClC-type chloride channel at 6.5 A resolution | Q41631106 | ||
| The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia | Q41910206 | ||
| Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis | Q42688801 | ||
| Familial cramp due to potassium-aggravated myotonia | Q42912609 | ||
| A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation | Q43569628 | ||
| A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita | Q43608171 | ||
| Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? | Q43986779 | ||
| Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia | Q44358032 | ||
| Effects of acetazolamide on myotonia | Q44464478 | ||
| The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology | Q47690289 | ||
| Genetic mapping of a second myotonic dystrophy locus | Q47991794 | ||
| Novel CLCN1 mutations with unique clinical and electrophysiological consequences | Q48463976 | ||
| ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence | Q48932812 | ||
| The equine periodic paralysis Na+ channel mutation alters molecular transitions between the open and inactivated states | Q48971130 | ||
| Propagation disturbance of motor unit action potentials during transient paresis in generalized myotonia: a high-density surface EMG study | Q49076358 | ||
| Anesthetic complications in muscle disorders | Q49250976 | ||
| Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene | Q49251027 | ||
| Hyperkalaemic periodic paralysis and anaesthesia | Q50194368 | ||
| Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current | Q50667617 | ||
| Myotonic dystrophy in pregnancy: A report of two cases within one family | Q51541167 | ||
| Acetazolamide-responsive myotonia congenita. | Q51630181 | ||
| Malignant hyperthermia in myotonia congenita | Q51772566 | ||
| Different effectiveness of tocainide and hydrochlorothiazide in paramyotonia congenita with hyperkalemic episodic paralysis. | Q51850561 | ||
| P304 | page(s) | 61-76 | |
| P577 | publication date | 2007-01-01 | |
| P1433 | published in | Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn | Q26842295 |
| P1476 | title | Myotonic disorders | |
| P478 | volume | 86 |
| Q39411250 | Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians | cites work | P2860 |
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