Pages that link to "Q34405781"
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The following pages link to Phenotypic variability in myotonia congenita (Q34405781):
Displaying 50 items.
- Myotonic disorders: A review article (Q26747746) (← links)
- A novel mutation in CLCN1 associated with feline myotonia congenita (Q27336172) (← links)
- Channelopathies of skeletal muscle excitability (Q28082428) (← links)
- Extracellular magnesium and calcium reduce myotonia in isolated ClC-1 chloride channel-inhibited human muscle (Q28237724) (← links)
- Myotonia congenita (Q28308020) (← links)
- Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels (Q28486132) (← links)
- A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia (Q30584867) (← links)
- ClC-1 chloride channels: state-of-the-art research and future challenges. (Q35541006) (← links)
- An interactive voice response diary for patients with non-dystrophic myotonia (Q35601160) (← links)
- Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia (Q35610491) (← links)
- The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels (Q35662832) (← links)
- Moroccan consanguineous family with Becker myotonia and review (Q35732237) (← links)
- Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene (Q36167191) (← links)
- The mechanism of fast-gate opening in ClC-0. (Q36296098) (← links)
- Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1 (Q36428423) (← links)
- A quantitative measure of handgrip myotonia in non-dystrophic myotonia (Q36587121) (← links)
- New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. (Q36605626) (← links)
- Clinical evaluation of membrane excitability in muscle channel disorders: potential applications in clinical trials (Q36774703) (← links)
- The nondystrophic myotonias (Q36774714) (← links)
- Myotonia congenita: novel mutations in CLCN1 gene (Q36782173) (← links)
- Non-dystrophic myotonia: prospective study of objective and patient reported outcomes (Q36953843) (← links)
- Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. (Q37223507) (← links)
- The preoperative neurological evaluation (Q37262132) (← links)
- Treatment of neuromuscular channelopathies: current concepts and future prospects (Q37329554) (← links)
- Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias (Q37390029) (← links)
- Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. (Q37417914) (← links)
- Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita (Q37671232) (← links)
- Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies (Q37956141) (← links)
- The diagnosis and treatment of myotonic disorders (Q38093802) (← links)
- Diagnosis of skeletal muscle channelopathies (Q38143226) (← links)
- Mutational consequences of aberrant ion channels in neurological disorders (Q38239544) (← links)
- Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature (Q38896436) (← links)
- Nondystrophic myotonia: challenges and future directions. (Q39289663) (← links)
- ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. (Q40814070) (← links)
- Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies (Q41101211) (← links)
- Functional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments (Q41828710) (← links)
- A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia (Q42330124) (← links)
- A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia (Q42391714) (← links)
- Nongenomic actions of progesterone and 17β-estradiol on the chloride conductance of skeletal muscle (Q42597003) (← links)
- Impaired Wheel Running Exercise in CLC-1 Chloride Channel-Deficient Myotonic Mice (Q42859875) (← links)
- Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes (Q42970603) (← links)
- Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. (Q46887109) (← links)
- The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study. (Q48011157) (← links)
- Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients (Q48565876) (← links)
- Novel Lys215Asn mutation in an Italian family with Thomsen myotonia. (Q52652711) (← links)
- Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia. (Q54105827) (← links)
- Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: A preclinical animal study (Q57038810) (← links)
- Skeletal Muscle Channelopathies (Q57811084) (← links)
- FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane (Q60932294) (← links)
- In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay (Q61943824) (← links)