Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Three-dimensional echocardiography; Three-dimensional speckle tracking; Strain; Distrofia miotónica; Ecocardiografia 3D; 3D speckle tracking; Strain;
مقالات ISI دیستروفی میوتونیک (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: دیستروفی میوتونیک; Pregnancy; Management; Genetic disorders; Hereditary hemorrhagic telangiectasia; Tuberous sclerosis; Myotonic dystrophy; Ornithine transcarbamoylase deficiency;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; DM1; Falls; Fractures; Balance;
Keywords: دیستروفی میوتونیک; Atrial fibrillation; Atrial fibrillation burden; Minimizing ventricular pacing; Myotonic dystrophy;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Sleep; PSG; MSLT; REM; NREM; Cyclic alternating pattern;
Keywords: دیستروفی میوتونیک; Corpus callosum; flavoprotein; MBNL; Microsatellite repeats; Myotonic dystrophy;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Myasthenia gravis; Graves' disease; Hypocretin;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Neuromuscular disease;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Fatigue; Daytime sleepiness; Reliability; Validity; Outcome assessment;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Outcome measures; Reliability; Number of trials; Repeated measures; Rehabilitation;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Disease progression; Muscle strength; Upper limbs; Longitudinal study; Rehabilitation;
Keywords: دیستروفی میوتونیک; Neuromuscular disorder; Myotonic dystrophy; Steinert disease; Management of myotonic dystrophy; Health considerations;
Keywords: دیستروفی میوتونیک; Dermatomyositis; facioscapulohumeral muscular dystrophy; inclusion body myositis; mitochondrial cytopathy; muscular dystrophy; myopathy; myositis; myotonic dystrophy; polymyositis; statins
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; MBNL1; Splicing; Human chloride channel 1 gene
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; dystrophia myotonica; pheochromocytoma; paraganglionoma; general anesthesia; hypertension;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Respiratory care; Non-invasive ventilation; Prospective cohort; Compliance; BIPAP; biphasic intermittent positive airway pressure; BMI; body mass index; CO2; carbon dioxide in arterial blood; CTG; cytosine-thymine-guanine; DM1; dys
Keywords: دیستروفی میوتونیک; Neuromuscular disease; Neuromuscular junction disorder; Motor neuron disease; Amyotrophic lateral sclerosis; Myasthenia gravis; Spinal cord disorders; Phrenic nerve damage; Myotonic dystrophy;
Keywords: دیستروفی میوتونیک; Pediatric neuromuscular disease; Duchenne muscular dystrophy; Spinal muscular atrophy; Myotonic dystrophy;
Keywords: دیستروفی میوتونیک; 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: دیستروفی میوتونیک; Myotonic dystrophy; Gait; Balance; Muscle weakness; Myotonia; Accelerometry;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Dystrophia myotonica type 1; Skin; Steinert's syndrome; Cutaneous involvement
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Observation; Self-reported falls; Postural balance; Muscle strength; Physiotherapy;
Keywords: دیستروفی میوتونیک; 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: دیستروفی میوتونیک; Myotonic dystrophy; Arrhythmia; Pacemaker; Electrocardiogram; Electrophysiology;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Arrhythmia; Conduction disorders; Sudden cardiac death;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Cardiomyopathy; Arrhythmia; Distrofia muscular miotónica; Miocardiopatia; Disritmias;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Lung function; Ventilatory restriction; Hypoxaemia; Hypercapnia
Keywords: دیستروفی میوتونیک; disease; Pregnancy; Obstetric anesthesia; Epilepsy; Seizure disorder; Multiple sclerosis; Primary intercranial hypertension; Arnold-chiari malformations; Neoplasm; Spinal cord injury; Myasthenia gravis; Myotonic dystrophy; Spinal muscular atrophy
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; DM1; DM2; Aberrant isoform expression; Missplicing;
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Electrophysiology; Myopathy; Expanded DNA repeat;
ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies
Keywords: دیستروفی میوتونیک; Angiotensin-converting enzyme inhibitor; Fibrosis; Muscular dystrophy; Duchenne muscular dystrophy; Becker muscular dystrophy; Myotonic dystrophy; Emery-Dreifuss muscular dystrophy; Heart failure; Dystrophinopathic cardiomyopathy;
Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Magnetic resonance imaging; Crural muscles; CTG repeats; Six-minute walk test;
Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Atrial fibrillation; Interatrial block; P-wave; Pacemaker; Neuromuscular disorders; Arrhythmias;
Symposium: neurologyAdvances in neuromuscular disorders - an update
Keywords: دیستروفی میوتونیک; Charcot-Marie-Tooth; children; Duchenne muscular dystrophy; muscle disease; myotonic dystrophy; spinal muscular atrophy;
Cardiac involvement in myotonic dystrophy: The role of troponins and N-terminal pro B-type natriuretic peptide
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; NT-pro-BNP; Cardiac troponins;
RNA fluorescence in situ hybridization for high-content screening
Keywords: دیستروفی میوتونیک; High-content screening (HCS); High-content analysis (HCA); Single molecule RNA FISH (smFISH); Triplet repeat-containing RNA; mRNA localization; Myotonic dystrophy;
Template-operated MUP analysis is not accurate in the diagnosis of myopathic or neuropathic changes in the diaphragm
Keywords: دیستروفی میوتونیک; Amyotrophic lateral sclerosis; Diaphragm; Motor unit potentials; Myotonic dystrophy; Pulmonary function; Diaphragme; Dystrophie myotonique; Fonction pulmonaire; Potentiel d'unité motrice; Sclérose latérale amyotrophique;
2D and 3D FISH of expanded repeat RNAs in human lymphoblasts
Keywords: دیستروفی میوتونیک; DM; myotonic dystrophy; HD; Huntington's disease; ALS/FTD; amyotrophic lateral sclerosis/frontotemporal dementia; FXTAS; fragile X-associated tremor/ataxia syndrome; FISH; fluorescence in situ hybridization; IF; immunofluorescence; Fluorescence in situ
Trinucleotide-repeat expanded and normal DMPK transcripts contain unusually long poly(A) tails despite differential nuclear residence
Keywords: دیستروفی میوتونیک; Nuclear retention; Hyperadenylation; DMPK; Poly(A) tail; Myotonic dystrophy; Trinucleotide repeat instability; RNA processing;
Comparison of small molecules and oligonucleotides that target a toxic, non-coding RNA
Keywords: دیستروفی میوتونیک; RNA; Myotonic dystrophy; Oligonucleotides; Small molecules;
High-sensitive cardiac troponin T (hs-cTnT) assay as serum biomarker to predict cardiac risk in myotonic dystrophy: A case-control study
Keywords: دیستروفی میوتونیک; hs-cTnT; hs-cTnI; Myotonic dystrophy; Cardiac involvement;
Characterization of sarcoplasmic reticulum Ca2+ ATPase pumps in muscle of patients with myotonic dystrophy and with hypothyroid myopathy
Keywords: دیستروفی میوتونیک; Sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1 (SERCA1); SERCA1b; Myotonic dystrophy; Hypothyroid myopathy; Brody myopathy;
RNA FISH for detecting expanded repeats in human diseases
Keywords: دیستروفی میوتونیک; DM; myotonic dystrophy; HD; Huntington's disease; SCA; spinocerebellar ataxia; DRPLA; dentatorubral-pallidoluysian atrophy; HDL2; Huntington disease-like 2; ALS/FTD; amyotrophic lateral sclerosis/frontotemporal dementia; FXTAS; fragile X-associated trem
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Myotonic dystrophy type 1; Steinert disease; Disease classification; Registry; Rare diseases; Medical care; Clinical trials; Healthcare;
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Somatic mosaicism; Modifier gene; DNA mismatch repair; Simple sequence repeat; Trinucleotide repeat
Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1
Keywords: دیستروفی میوتونیک; Trinucleotide disorder; Curschman-Steinert disease; Myotonic dystrophy; Cardiac involvement; Ventricular arrhythmias; Perturbação trinucleotide; Doença de Curshman-Steinert; Distrofia miotónica; Envolvimento cardÃaco; Arritmias ventriculares;
Syncope and hyperCKemia as minimal manifestations of short CTG repeat expansions in myotonic dystrophy type 1
Keywords: دیستروفی میوتونیک; Trinucleotide disorder; Curschman-Steinert disease; Myotonic dystrophy; Cardiac involvement; Ventricular arrhythmias; Perturbação trinucleotide; Doença de Curshman-Steinert; Distrofia miotónica; Envolvimento cardÃaco; Arritmias ventriculares;
Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: Evidence for a dysregulation at central level
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Lung function; Muscle; Control of breathing
Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle
Keywords: دیستروفی میوتونیک; SERCA1a; SERCA1b; Myotonic dystrophy; P-type ATPase; Alternative splicing
Peripheral nerve involvement in myotonic dystrophy type 2 – similar or different than in myotonic dystrophy type 1?
Keywords: دیستروفی میوتونیک; Myotonic dystrophy; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Nerve conduction studies; Polyneuropathy