Keywords: سندرم متابولیک; Myotonia; Grip myotonia; Myotonia congenita; Myotonic dystrophy type 1; Sensor-engineered glove;
مقالات ISI سندرم متابولیک (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: سندرم متابولیک; myotonia; periodic paralysis; cramps; gait; strabismus; ATS; Andersen-Tawil syndrome; hyperPP; Hyperkalemic periodic paralysis; hypoPP; Hypokalemic periodic paralysis; MC; Myotonia congenita;
Keywords: سندرم متابولیک; Multiple sclerosis; Myotonia congenita; Muscle disorders; Stiffness;
Myotonia congenita in a Labrador Retriever with truncated CLCN1
Keywords: سندرم متابولیک; CLCN1; Labrador Retriever; Myotonia congenita;
Targeted Next Generation Sequencing in patients with Myotonia Congenita
Keywords: سندرم متابولیک; Myotonia Congenita; NGS; CLCN1; Thomsen disease; Becker disease;
Thomsen disease with ptosis and abnormal MR findings
Keywords: سندرم متابولیک; Autosomal dominant; Immunohistochemistry; MRI; Myotonia congenita; Skeletal muscle chloride channel-1 (CLCN1); Thomsen disease;
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia
Keywords: سندرم متابولیک; SCN4A; CLCN1; Myotonia; Nondystrophic myotonia; Myotonia congenita; Paramyotonia congenita; Sodium channel myotonia; Electromyography;
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias
Keywords: سندرم متابولیک; Non-dystrophic myotonia; MRI; Myotonia congenita; Paramyotonia congenita;
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes
Keywords: سندرم متابولیک; Acetazolamide; Chloride channel mutation; ClC-1 chloride channel; Genotype-phenotype relationship; Myotonia congenita; Non-dystrophic myotonia; Patch-clamp; Transitory weakness;
Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle
Keywords: سندرم متابولیک; 9-AC; 9-anthracenecarboxylic acid; AUC; area under the curve; [Ca2+]o; extracellular Ca2+ concentration; EDL; extensor digitorum longus; [Mg2+]o; extracellular Mg2+ concentration; NKR; normal Krebs-Ringer solution; Vrest; resting membrane potential; Vth;
Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients
Keywords: سندرم متابولیک; Skeletal muscle; Channelopathy; CLCN1 gene; Myotonia congenita; Thomsen's disease; Becker's generalized myotonia;
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene
Keywords: سندرم متابولیک; Myotonia congenita; Thomsen disease; Becker's disease; CLCN1 mutations; Functional analysis;
A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization
Keywords: سندرم متابولیک; Myotonia congenita; ClC-1; Mutation; Whole-cell recording; Kinetics
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
Keywords: سندرم متابولیک; Myotonia congenita; CLCN1; SCN4A; Electrophysiology
Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita
Keywords: سندرم متابولیک; CLC-1; Hormone; Non-genomic; Myotonia congenita; Chloride channel
Novel chloride channel mutations leading to mild myotonia among Chinese
Keywords: سندرم متابولیک; Myotonia congenita; Mutation; Chinese; Chloride channel; Physiology;
Activity-induced weakness in recessive myotonia congenita with a novel (696 + 1G > A) mutation
Keywords: سندرم متابولیک; Myotonia congenita; Nerve excitability; Repetitive stimulation
Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression
Keywords: سندرم متابولیک; CLCN1 mutants; Electrophysiology; Myotonia congenita; Voltage-gated chloride channel; Taiwan
Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel
Keywords: سندرم متابولیک; ADR; arrested development of righting response; BHK; baby hamster kidney; BSA; bovine serum albumin; BTX; α-bungarotoxin; ClC-1; skeletal muscle chloride channel protein; DHPR; dihydropyridine receptor; EDL; musculus extensor digitorum longus; EDTA; ethy