Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; ischemic stroke; risk factor; atrial fibrillation; atrial flutter;
مقالات ISI نوع دیستروفی میوتونیک 1 (ترجمه نشده)
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Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Magnetic resonance imaging (MRI); Muscle phosphorous MR spectroscopy; Brain proton MR spectroscopy;
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Childhood-onset form; Autism spectrum disorder; Comorbidity; Neuropsychological profiles; Social communication disorder;
Keywords: نوع دیستروفی میوتونیک 1; Respiratory failure; Myotonic dystrophy type 1; Pulmonary function tests; Respiratory care; Non-invasive ventilation;
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Prevalence; Age adjusted; Sweden;
Keywords: نوع دیستروفی میوتونیک 1; Myotonia; Grip myotonia; Myotonia congenita; Myotonic dystrophy type 1; Sensor-engineered glove;
Keywords: نوع دیستروفی میوتونیک 1; Echocardiography; Left ventricle dysfunction; Mitral valve prolapse; Myotonic dystrophy type 1;
Keywords: نوع دیستروفی میوتونیک 1; Childhood myotonic dystrophy; Clinical evolution; Clinical manifestations; Excessive daytime sleepiness; Quality of life; CDM1; Congenital Myotonic Dystrophy; DM1; Myotonic Dystrophy Type 1; DMPK; Dystrophia Myotonica protein kinase; ESS; Epworth Sleepine
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Brain positron emission tomography; Neuropsychology;
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Cognitive ageing; Neuromuscular diseases; Neuropsychology; Memory; Attention;
Keywords: نوع دیستروفی میوتونیک 1; Muscular Dystrophy; Myotonic Dystrophy type 1; Myotonic Dystrophy Health Index; MDHI; Italian validation; Patient-reported outcome measure;
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Neuromuscular transmission abnormalities; Single fiber electromyography; Repetitive nerve stimulation; Weakness; Fatigue
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Cognitive task; GAITRite walkway system; Temporal and stride parameters
Keywords: نوع دیستروفی میوتونیک 1; myotonic dystrophy type 1; DTI; TBSS; VBM; cortical thickness
Keywords: نوع دیستروفی میوتونیک 1; Myotone Dystrophie Typ 1; Curschmann-Steinert-Erkrankung; neuromuskulär; Schlaf; nicht invasive Beatmung; Myotonic Dystrophy Type 1; Curschmann-Steinert-Disease; neuromuscular; sleep; non invasive ventilation;
Keywords: نوع دیستروفی میوتونیک 1; Human muscle cell models; Immortalization; Myotonic dystrophy type 1; Cyclin D1; TERT; CDK4; ASOs;
Keywords: نوع دیستروفی میوتونیک 1; MMR; mismatch repair; MSH; mutS homolog; MLH; mutL homolog; BER; base excision repair; NER; nucleotide excision repair; TNR; trinucleotide repeat; DM1; myotonic dystrophy type 1; HD; huntington's disease; FRDA; Friedreich's ataxia; FXD; fragile X dise
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Supraventricular arrhythmia; Atrial flutter; Radiofrequency ablation;
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy; Rehabilitation; Social participation; Muscle strength; Homecare services; Cut-off scores; AUC; area under curve; ROC; receiver operating characteristic; CTG; cytosine-thymine-guanine; DM1; myotonic dystrophy type 1; LIFE-H; Assessment
Keywords: نوع دیستروفی میوتونیک 1; Steinert disease; Myotonic dystrophy type 1; Conduction disorders; Transgenic mice; Electrophysiology; Arrhythmia basic study; Sodium current channelopathy;
Keywords: نوع دیستروفی میوتونیک 1; Central sleep apnea syndrome; Myotonic dystrophy type 1; Bi-level positive airway pressure
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Quality of life; Cognition; Behavior; Fatigue
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Myotonic dystrophy type 2; CUG/CCUG repeats; Muscle atrophy; Therapeutic approaches;
Cardiac autonomic control during sleep in patients with myotonic dystrophy type 1: the effects of comorbid obstructive sleep apnea
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Heart rate variability; Autonomic; Sleep; Obstructive sleep apnea;
Hypersomnolence secondaire à une dystrophie myotonique de type 1 sans myotonie clinique
Keywords: نوع دیستروفی میوتونیک 1; Hypersomnolence; Steinert; Dystrophie myotonique type 1; Dysrégulation du sommeil paradoxal; Hypersomnolence; Steinert; Myotonic dystrophy type 1; REM sleep dysregulation;
Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory
Keywords: نوع دیستروفی میوتونیک 1; DM1; myotonic dystrophy tipe 1; DMPK gene; dystrophia myotonica-protein kinase gene; TP-PCR; triplet-repeat primed polymerase chain reaction; SBA; Southern Blot analysis; Myotonic dystrophy type 1; Diagnostic error; TP-PCR technique; Interruptions;
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes
Keywords: نوع دیستروفی میوتونیک 1; Myotonic Dystrophy type 1 (DM1); Human induced pluripotent stem cells; Cardiomyocytes; Electrophysiological analysis; Antiarrhytmic drugs; ACTN2; sarcomeric alpha actinin; AFM; atomic force microscopy; AP; action potential; APD; action potential duration;
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Skin abnormalities; Premature aging; Vitamin D;
Left ventricular longitudinal strain impairment predicts cardiovascular events in asymptomatic type 1 myotonic dystrophy
Keywords: نوع دیستروفی میوتونیک 1; CTG; Cytosine-Thymine-Guanine; DM1; myotonic dystrophy type 1; ECG; electrocardiogram; GLS; global longitudinal strain; LVEF; left ventricular ejection fraction; LS; longitudinal strain; Myotonic dystrophy type 1; Left ventricular function; Echocardiograp
ReviewDiscriminating RNA variants with single-molecule allele-specific FISH
Keywords: نوع دیستروفی میوتونیک 1; FISH; Fluorescence in situ hybridization; smFISH; single-molecule FISH; SNP; single nucleotide polymorphism; DM1; myotonic dystrophy type 1; Allele-specific; Point mutation; Splicing; Fused gene; Fluorescence in situ hybridization; Single molecule detecti
The cognitive profile of myotonic dystrophy type 1:Â A systematic review and meta-analysis
Keywords: نوع دیستروفی میوتونیک 1; Cognitive disorders; Trinucleotide repeat diseases; Muscle disease; DM1; myotonic dystrophy type 1;
Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Neuromuscular disease; CTG repeats; Renal function;
Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; CTG repeats; Amerindian population; Mexican mestizo population; Haplotype; Polymorphism;
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy; Myotonic dystrophy type 1; Steinert disease; Disease classification; Registry; Rare diseases; Medical care; Clinical trials; Healthcare;
Surgical treatment of obesity in DM1 – a case report and a review of the literature
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Obesity; Anesthesia; Surgical treatment of obesity
Haplotype analysis and LD detection at DM1 locus
Keywords: نوع دیستروفی میوتونیک 1; DM1; Myotonic dystrophy type 1; DMPK; Dystrophia myotonica protein kinase gene; SNPs; Single nucleotide polymorphisms; LD; Linkage disequilibrium; Myotonic dystrophy type 1 (DM1); DMPK gene; Haplotype; HhaI; HinfI; BpmI; CKMM; Linkage disequilibrium (LD);
Peripheral nerve involvement in myotonic dystrophy type 2 – similar or different than in myotonic dystrophy type 1?
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Nerve conduction studies; Polyneuropathy
Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR
Keywords: نوع دیستروفی میوتونیک 1; Trinucleotide repeat disorders; Fragile X syndrome; Myotonic dystrophy type 1; Spinocerebellar ataxia; Friedreich Ataxia and Huntington Disease
Age-, tissue- and length-dependent bidirectional somatic CAGâ¢CTG repeat instability in an allelic series of R6/2 Huntington disease mice
Keywords: نوع دیستروفی میوتونیک 1; HD; Huntington disease; DM; myotonic dystrophy; DM1; myotonic dystrophy type 1; PCR; polymerase chain reaction; YAC; yeast artificial chromosome; BAC; bacterial artificial chromosome; SP-PCR; small pool-PCR; SCA1; spinocerebellar ataxia type 1; SCA7; spin
LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Muscleblind-like 1; CUG triplet repeat RNA-binding protein; LIM domain binding 3; Protein kinase C;
Does quantitative EMG differ myotonic dystrophy type 2 and type 1?
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Electromyography; MUP
Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES)
Keywords: نوع دیستروفی میوتونیک 1; Dysphagia; Myotonic dystrophy type 1; Deglutition; Deglutition disorders; Fiberoptic endoscopic evaluation of swallowing;
Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies
Keywords: نوع دیستروفی میوتونیک 1; Myotonic Dystrophy type 1; Myotonic Dystrophy type 2; PTH; Calcium; Phosphate; 25OHD; CTG correlations;
Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Respiratory failure; DM1 transgenic mice; CTG trinucleotide; Pressure plethysmography;
The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Cardiac arrhythmias; Sudden cardiac death;
CUG-BP, Elav-like family (CELF)-mediated alternative splicing regulation in the brain during health and disease
Keywords: نوع دیستروفی میوتونیک 1; CELF; CUG-BP, Elav-like family; DM1; Myotonic dystrophy type 1; MBNL; Muscle blind-like; SCA; Spinocerebellar ataxia; SMA; Spinal muscular atrophy; SMN; Survival motor neuron; SBMA; Spinal and bulbar muscular atrophy; CLIP; Crosslinking immunoprecipitatio
Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; Mouse; In vivo; Skeletal muscle; Follow-up;
Targeting long non-coding RNAs in cancers: Progress and prospects
Keywords: نوع دیستروفی میوتونیک 1; ANRIL; antisense non-coding RNA in the INK4 locus; ATRA; all-trans retinoic acid; ASO; antisense oligonucleotide; CRC; colorectal carcinoma; CREB; cAMP-responsive element binding protein; DM1; myotonic dystrophy type 1; DsRNA; double-stranded RNA; EMT; ep
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study
Keywords: نوع دیستروفی میوتونیک 1; Myotonic dystrophy type 1; FSHD; Double trouble; Muscle MRI study;
Manifestaciones cardiacas en los pacientes con distrofia miotónica tipo 1 seguidos de forma protocolizada en una consulta monográfica
Keywords: نوع دیستروفی میوتونیک 1; DAI; desfibrilador automático implantable; EEF; estudio electrofisiológico; MCP; marcapasos; TV; taquicardias ventriculares; Distrofia miotónica tipo 1; Electrocardiograma; Estudio electrofisiológico; Marcapasos; Myotonic dystrophy type 1; Electrocard