Keywords: بیماری مرکزی هسته ای; 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;
مقالات ISI بیماری مرکزی هسته ای (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: بیماری مرکزی هسته ای; Congenital lumbar hernia; Central core disease; Malignant hyperthermia; RYR1; Arthrogryposis
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives
Keywords: بیماری مرکزی هسته ای; 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;
A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy
Keywords: بیماری مرکزی هسته ای; RYR1 gene; Core myopathy; Mutation; Deletion; Pathology; Central core disease
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease
Keywords: بیماری مرکزی هسته ای; Central core disease; Congenital myopathies; Ryanodine receptor type 1; Calcium transport; Excitation-contraction coupling;
182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands
Keywords: بیماری مرکزی هسته ای; CCD; Central Core Disease; CNM; Centronuclear Myopathy; E-C; excitation-contraction; MH; malignant hyperthermia; MHS; malignant hyperthermia susceptibility; MmD; Multi-minicore Disease; RYR1; skeletal muscle ryanodine receptor gene; RyR1; skeletal mus
King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Keywords: بیماری مرکزی هسته ای; Congenital myopathies; King–Denborough syndrome; Central core disease; Malignant hyperthermia susceptibility (MHS); Skeletal muscle ryanodine receptor (RYR1) gene
Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum
Keywords: بیماری مرکزی هسته ای; Calcium; Malignant hyperthermia; Central core disease; Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor; Calsequestrin;
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity
Keywords: بیماری مرکزی هسته ای; Central core disease; Ryanodine receptor; Dihydropyridine receptor; Mutation; Functional coupling
Identification of ryanodine receptor 1 single-nucleotide polymorphisms by high-resolution melting using the LightCycler 480 System
Keywords: بیماری مرکزی هسته ای; High-resolution melting; SNP identification; LightCycler 480; Ryanodine receptor 1; Malignant hyperthermia; Central core disease
What’s new in congenital myopathies?
Keywords: بیماری مرکزی هسته ای; Congenital myopathy; Nemaline myopathy; Central core disease; Centronuclear myopathy; Congenital fibre type disproportion
Hyperthermie maligne
Keywords: بیماری مرکزی هسته ای; Hyperthermie maligne; Central core disease; Tests de contracture; Hyperthermie d'effort; Malignant hyperthermia; Central core disease; Contracture tests; Exercise hyperthermia;