Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Noninvasive positive pressure ventilation; Respiratory function; Sleep disordered breathing; Hypercapnia;
مقالات ISI دیستروفی عضلانی بکر (ترجمه نشده)
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Keywords: دیستروفی عضلانی بکر; BMD; Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; Remudy; Registry of muscular dystrophy in Japan; NCNP; National Center of Neurology and Psychiatry; SD; standard deviation; Becker muscular dystrophy; Dystrophinopathy; Patient registry; Qu
Keywords: دیستروفی عضلانی بکر; Duchenne Muscular Dystrophy; Epilepsy; Seizures; Neurodevelopmental disorders; Sleep disorders; Questionnaire study; AD(H)D; Attention Deficit (Hyperactivity) Disorder; AEDs; Anti-epileptic drugs; ASD; Autism Spectrum Disorder; BMD; Becker Muscular Dystro
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Ventricular tachycardia; Electroanatomic mapping; Epicardial ablation; Epicardial scar; Cardiomyopathy;
Keywords: دیستروفی عضلانی بکر; Duchenne muscular dystrophy; Becker muscular dystrophy; Urinary urge incontinence; Quality of life;
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Carrier care standards; Carrier testing; Duchenne muscular dystrophy; Genetic counseling; Genetic testing;
Keywords: دیستروفی عضلانی بکر; ALS; amyotrophic lateral sclerosis; ARVC; arrhythmogenic right ventricular cardiomyopathy; ATS; Andersen-Tawil syndrome; BBB; bundle branch block; BMD; Becker muscular dystrophy; CACT; carnitine-acylcarnitine translocase; cMRI; cardiac magnetic resonanc
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy cardiomyopathy; Duchenne muscular dystrophy cardiomyopathy; muscular dystrophy cardiomyopathy; ACEI; angiotensin-converting enzyme inhibitor; BMD; Becker muscular dystrophy; CMR; cardiac magnetic resonance imaging; CRISPR; cluste
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Dystrophin associated glycoprotein complex; Disease progression; nNOS; Utrophin
Keywords: دیستروفی عضلانی بکر; Pain; Spinal muscular atrophy; Duchenne muscular dystrophy; Becker muscular dystrophy; Neuromuscular disorders; Adolescent
Keywords: دیستروفی عضلانی بکر; Muscular dystrophy; Echocardiography; Cardiac strain; Cardiomyopathy; BMD; Becker muscular dystrophy; CINRG; Cooperative International Neuromuscular Research Group; CS; Circumferential strain; DMD; Duchenne muscular dystrophy; DTI; Doppler tissue imaging;
Keywords: دیستروفی عضلانی بکر; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator protein; CFTR2; Correctors; Potentiators; Trial end-points; Amil; Amiloride; AMP; Accelerating Medicine Partnership; ANO; anoctamins; AONs; antisense oligonucleotides; ASL; airway surfac
Keywords: دیستروفی عضلانی بکر; BMD; Becker muscular dystrophy; CMS; Calf MRI score; CSA; Cross sectional area; DMD; Duchenne muscular dystrophy; MRC; Medical research council; MRI; Magnetic resonance imaging; STIR; Short tau inversion recovery; Becker muscular dystrophy; Magnetic reson
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; complementary therapies; Duchenne muscular dystrophy; neuromuscular diseases;
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Limb-girdle muscular dystrophy; Rehabilitation; Training; Gait; Dynamic postural balance;
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Myocardial tissue characterization; Cardiomyopathy; Genetics;
Keywords: دیستروفی عضلانی بکر; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; CI; confidence interval; Incidence; Prevalence; Epidemiology; Muscular dystrophy; Population-based;
Keywords: دیستروفی عضلانی بکر; Duchenne muscular dystrophy; Becker muscular dystrophy; Dystrophin; Exon skipping;
Xanthine oxidase is hyper-active in Duchenne muscular dystrophy
Keywords: دیستروفی عضلانی بکر; 6MWT; six minute walk test; BMD; Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; ECM; extracellular matrix; EDL; extensor digitorum longus; HPLC; high performance liquid chromatography; mdx; DMD mouse model; ROS; reactive nitrogen species; Sc
Truncated dystrophin ameliorates the dystrophic phenotype of mdx mice by reducing sarcolipin-mediated SERCA inhibition
Keywords: دیستروفی عضلانی بکر; Duchenne muscular dystrophy; Becker muscular dystrophy; nNOS; Ryanodine receptor; Sarcoplasmic/endoplasmic reticulum Ca2+-ATPase (SERCA); Sarcolipin;
ACE inhibition to slow progression of myocardial fibrosis in muscular dystrophies
Keywords: دیستروفی عضلانی بکر; Angiotensin-converting enzyme inhibitor; Fibrosis; Muscular dystrophy; Duchenne muscular dystrophy; Becker muscular dystrophy; Myotonic dystrophy; Emery-Dreifuss muscular dystrophy; Heart failure; Dystrophinopathic cardiomyopathy;
Perturbation of muscle metabolism in patients with muscular dystrophy in early or acute phase of disease: In vitro, high resolution NMR spectroscopy based analysis
Keywords: دیستروفی عضلانی بکر; BCA; branched chain amino acids; Lac; lactate; Gln/glu; glutamine/glutamate; Ala; alanine; Ace; acetate; Suc; succinate; Cr/PCr; creatine/phosphocreatine; GPC/Car; glycerophosphocholine/ carnitine; Fum; fumarate; His; histidine; Tyr; tyrosine; Prop; propi
Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing
Keywords: دیستروفی عضلانی بکر; BMD; Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; FoSTeS; Fork Stalling and Template Switching; FTHL17; ferritin heavy chain like 17; MLPA; multiplex ligation dependent probe amplification; MMBIR; microhomology-mediated break-induced repli
Review articleThe AAV-mediated and RNA-guided CRISPR/Cas9 system for gene therapy of DMD and BMD
Keywords: دیستروفی عضلانی بکر; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; Dmd; the dystrophin gene; CRISPR; clustered regularly interspaced short palindromic repeats; Cas9; CRISPR-associated protein 9; gRNAs; guided RNAs; SpCas9; Cas9 from Staphylococcus pyogenes
Long-term regulation of gene expression in muscle cells by systemically delivered siRNA
Keywords: دیستروفی عضلانی بکر; 2â²-F; 2â²-fluoro; 2â²OMe; 2â²-O-methyl; Ago; argonaute; AME; absorptive-mediated endocytosis; AMT; absorptive-mediated transcytosis; BBB; blood-brain barrier; BMB; blood-muscle barrier; BMD; Becker muscular dystrophy; CPP; cell penetrating peptid
Abnormal lipid metabolism in skeletal muscle tissue of patients with muscular dystrophy: In vitro, high-resolution NMR spectroscopy based observation in early phase of the disease
Keywords: دیستروفی عضلانی بکر; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; FSHD; Facioscapulohumeral muscular dystrophy; LGMD-2B; Limb girdle muscular dystrophy-2B; TG; Triglycerides; PL; Phospholipids; CHOL; Total cholesterol; TSP; [3-(trimethylsilyl) propionic-2
Case reportBecker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
Keywords: دیستروفی عضلانی بکر; Dystrophinopathy; Dystrophin; Duchenne muscular dystrophy; Becker muscular dystrophy; Splicing mutation; Dystrophin amount;
Abnormal short-latency synaptic plasticity in the motor cortex of subjects with Becker muscular dystrophy: a rTMS study
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Dystrophinopathies; Repetitive transcranial magnetic stimulation; Motor evoked potentials; Cortical silent period; Cortical plasticity; Glutamatergic transmission;
Contributions of Japanese patients to development of antisense therapy for DMD
Keywords: دیستروفی عضلانی بکر; Duchenne muscular dystrophy; Becker muscular dystrophy; Exon skipping; Antisense oligonucleotide; Reading frame; Treatment
The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study
Keywords: دیستروفی عضلانی بکر; Imaging biomarker; Dystrophinopathy; Becker muscular dystrophy; Quantitative MR; Timed function tests;
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene
Keywords: دیستروفی عضلانی بکر; BMD; Becker Muscular Dystrophy; CVS; Chorionic Villus Sample; DMD; Duchenne Muscular Dystrophy; MLPA; Multiplex Ligation-dependent Probe Amplification; PCR; Polymerase Chain Reaction; STR; Short Tandem-Repeat; XLDC; X-linked Dilated Cardiomiopathy; Dystro
Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient
Keywords: دیستروفی عضلانی بکر; Duchenne muscular dystrophy; Becker muscular dystrophy; perianesthesia care; practice guidelines; continuing education;
Case reportDystrophinopathy mimicking metabolic myopathies
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Dystrophin; Dystrophinopathy; Metabolic myopathy; Rhabdomyolysis;
Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries
Keywords: دیستروفی عضلانی بکر; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; MLPA; Multiplex Ligation-dependent Probe Amplification; SIFT; Sorting Intolerant From Tolerant; PolyPhen; Polymorphism Phenotyping; Panther; Protein ANalysis THrough Evolutionary Relationsh
Valutazione delle caratteristiche cranio-facciali in pazienti affetti da patologie neuromuscolari
Keywords: دیستروفی عضلانی بکر; Disordini neuromuscolari; Distrofia muscolare; Distrofia di Duchenne; Distrofia di Becker; Caratteristiche cranio-facciali; Neuromuscular diseases; Muscular dystrophy; Duchenne muscular dystrophy; Becker muscular dystrophy; Craniofacial features;
Low dystrophin levels in heart can delay heart failure in mdx mice
Keywords: دیستروفی عضلانی بکر; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; Dystrophin; Cardiomyopathy; Mouse models; Magnetic resonance imaging; Therapy;
When a mid-intronic variation of DMD gene creates an ESE site
Keywords: دیستروفی عضلانی بکر; Mid-intronic variation; Becker muscular dystrophy; Dystrophin; ESE site;
Mechanical and non-mechanical functions of Dystrophin can prevent cardiac abnormalities in Drosophila
Keywords: دیستروفی عضلانی بکر; Dys; Dystrophin; DMD; Duchene muscular dystrophy; BMD; Becker muscular dystrophy; XLDCM; X-linked dilated cardiomyopathy; DCM; Dilated cardiomyopathy; AAV; Adeno-associated virus; Dg; Dystroglycan; CR; Cysteine-rich domain; nNos; Neuronal nitric oxide syn
Two mutations in one dystrophin gene
Keywords: دیستروفی عضلانی بکر; non-contiguous deletions; non-contiguous duplications; Duchenne muscular dystrophy; Becker muscular dystrophy; multiplex ligation-dependent probe amplificationnieciągłe delecje; nieciągłe duplikacje; dystrofia mięśniowa Duchenne'a; dystrofia mięśniowa Bec
Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données
Keywords: دیستروفی عضلانی بکر; Dystrophie musculaire de Duchenne; Dystrophie musculaire de Becker; Phénotype; Corrélations génotype-phénotype; Banque de données; Duchenne muscular dystrophy; Becker muscular dystrophy; Phenotype; Phenotype-genotype correlations; Database;
Detection of pathogenic mutations and the mechanism of a rare chromosomal rearrangement in a Chinese family with Becker muscular dystrophy
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Family; DMD gene; Mutation; Chromosomal rearrangement;
Muscle MRI in Becker muscular dystrophy
Keywords: دیستروفی عضلانی بکر; Muscle MRI; Becker muscular dystrophy; Imaging pattern
Evaluation of muscle oxygenation by near-infrared spectroscopy in patients with Becker muscular dystrophy
Keywords: دیستروفی عضلانی بکر; Becker muscular dystrophy; Muscle oxygenation; Near-infrared spectroscopy; Dystrophin; NO; Neuromuscular disease;
Associate Editor: I. KimuraChallenges to congenital genetic disorders with “RNA-targeting” chemical compounds
Keywords: دیستروفی عضلانی بکر; AD; Alzheimer disease; BMD; Becker muscular dystrophy; Clk; Cdc-2 like kinases; DDS; Denys Drash Syndrome; DMD; Duchenne muscular dystrophy; DYRK1A; dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A; DS; Down syndrome; MD; myotonic dystrop
Cardiac MRI in Muscular Dystrophy: An Overview and Future Directions
Keywords: دیستروفی عضلانی بکر; MRI; Muscular dystrophy; Cardiac; Duchenne muscular dystrophy; Becker muscular dystrophy; X-linked dilated cardiomyopathy;
Cardiac Management in Neuromuscular Diseases
Keywords: دیستروفی عضلانی بکر; Duchenne muscular dystrophy; Becker muscular dystrophy; Myotonic muscular dystrophy; Emery-Dreifuss muscular dystrophy; Limb-girdle muscular dystrophy;
Symptomatic dystrophinopathies in female children
Keywords: دیستروفی عضلانی بکر; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; CK; creatine kinase; CPNG; Canadian Pediatric Neuromuscular Group; OCD; obsessive compulsive disorder; IHC; immunohistochemistry; Dystrophinopathy; Pediatric; Female; Duchenne muscular dyst
Respiratory pattern in an adult population of dystrophic patients
Keywords: دیستروفی عضلانی بکر; Muscular dystrophy; Limb-Girdle Muscular dystrophy; Facio-Scapulo Humeral Dystrophy; Becker Muscular Dystrophy; Respiratory pattern; Pulmonary function; Chest Wall kinematics
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients
Keywords: دیستروفی عضلانی بکر; Duchenne muscular dystrophy; Becker muscular dystrophy; Exon skipping therapy; Exon 51; Databases; Mild phenotype
A simple protocol for assessing inter-trial and inter-examiner reliability for two noninvasive measures of limb muscle strength
Keywords: دیستروفی عضلانی بکر; Muscular dystrophy; mdx mouse; Wire holding test; Escape test; Whole body tension; Muscle function; Noninvasive measures; Duchenne muscular dystrophy; Becker muscular dystrophy; Translational studies