Keywords: میوپاتی مادرزادی; Congenital muscular dystrophies; Congenital myopathies; Child; Respiratory muscles; Sniff nasal inspiratory pressure; Lung function;
مقالات ISI میوپاتی مادرزادی (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: میوپاتی مادرزادی; Neuromuscular disorders; Congenital myopathies; Genetics; Therapy; CCD; Central Core Disease; CFTD; Congenital Fibre Type Disproportion; CNM; Centronuclear Myopathy; MmD; Multi-minicore Disease; NM; Nemaline Myopathy;
Keywords: میوپاتی مادرزادی; Congenital myopathies; RYR1; Core myopathy; Muscle ultrasound; NEB; MTM1; SEPN1; ACTA1; TPM3;
Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers
Keywords: میوپاتی مادرزادی; Congenital myopathies; Centronuclear myopathies; Necklace fibers; MTM1; Manifesting female carriers;
The primary cause of muscle disfunction associated with substitutions E240K and R244G in tropomyosin is aberrant behavior of tropomyosin and response of actin and myosin during ATPase cycle
Keywords: میوپاتی مادرزادی; Tropomyosin; F-actin; Myosin; Troponin; Ghost muscle fibres; Congenital myopathies; Fluorescence polarization; 1,5-IAEDANS; N-(iodoacetaminoethyl)-1-naphthyl-amine-5-sulfonic acid; 5-IAF; 5-iodoacetamidofluorescein; TM-WT; wild type recombinant Tpm1.1; TM
Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods
Keywords: میوپاتی مادرزادی; Skeletal muscle α-actin; ACTA1; Congenital myopathies; Cytoplasmic bodies;
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives
Keywords: میوپاتی مادرزادی; Cav1.1; alfa 1 subunit of the dihydropyridine receptor; CCD; central core disease; CNM; centronuclear myopathy; DHPR; dihydropyridine receptor; ECC; excitation contraction coupling; ECCE; excitation coupled calcium entry; ER; endoplasmic reticulum; HDAC;
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Keywords: میوپاتی مادرزادی; RYR1; Centronuclear myopathy; Congenital myopathies;
Variabilidad en la determinación de fracción grasa muscular en resonancia magnética utilizando la técnica de Dixon
Keywords: میوپاتی مادرزادی; Resonancia magnética; Músculo; Cuerpo completo; Dixon; Fracción grasa; MiopatÃas congénitas; Magnetic resonance imagining; Muscle; Whole body; Dixon; Fat fraction; Congenital myopathies;
Abnormal movement of tropomyosin and response of myosin heads and actin during the ATPase cycle caused by the Arg167His, Arg167Gly and Lys168Glu mutations in TPM1 gene
Keywords: میوپاتی مادرزادی; Tropomyosin; F-actin; Myosin; Troponin; Ghost muscle fibres; Congenital myopathies; Fluorescence polarizationTM, tropomyosin; WTTM, wild-type tropomyosin; S1, myosin subfragment 1; FITC-phalloidin, phalloidin-fluorescein isothiocyanate; 1,5-IAEDANS, N-(io
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related “core-rod” congenital myopathy
Keywords: میوپاتی مادرزادی; Congenital myopathies; Core-rod myopathies; Nebulin; Distal myopathies; Foot drop
Aberrant movement of β-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle
Keywords: میوپاتی مادرزادی; Tropomyosin; F-actin; Myosin; Troponin; Ghost muscle fibers; Congenital myopathies; Fluorescence polarization;
ReviewCongenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature
Keywords: میوپاتی مادرزادی; Congenital myasthenic syndromes; Congenital myopathies; Neuromuscular junction; Neuromuscular transmission; Centronuclear myopathies; Fibre type disproportion; Plectinopathy; Tropomyosin; Acetylcholinesterase inhibitors; Acetylcholine receptor; RYR1; TPM2
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease
Keywords: میوپاتی مادرزادی; Central core disease; Congenital myopathies; Ryanodine receptor type 1; Calcium transport; Excitation-contraction coupling;
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
Keywords: میوپاتی مادرزادی; Skeletal muscle ryanodine receptor (RYR1) gene; Congenital myopathies; Malignant hyperthermia (MH) susceptibility; Rhabdomyolysis; Calcium homeostasis
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
Keywords: میوپاتی مادرزادی; Whole Body; Magnetic Resonance Imaging; Congenital Myopathies; Nemaline; Arthrogryposis; Beta tropomyosin 2 (TPM2); Cap disease
King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Keywords: میوپاتی مادرزادی; Congenital myopathies; King–Denborough syndrome; Central core disease; Malignant hyperthermia susceptibility (MHS); Skeletal muscle ryanodine receptor (RYR1) gene
Centronuclear myopathies: A widening concept
Keywords: میوپاتی مادرزادی; Congenital myopathies; Radiating sarcoplasmic strands; Necklace-fibres; MTM1; DNM2; BIN1; RyR1
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy
Keywords: میوپاتی مادرزادی; Selenoprotein; Selenoprotein N1-related myopathies; Rigid spine; Congenital myopathies; Respiratory failure