Keywords: میوپاتی غیرمالی; Nemaline myopathy; Dominant inheritance; Skeletal muscle alpha-actin; Three-generation family; Clinical variability;
مقالات ISI میوپاتی غیرمالی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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 غیرمالی; Monoclonal gammopathy; Nemaline myopathy; Amyloid myopathy; Immunofixation electrophoresis; Free light chain assay; Thioflavin S staining;
Keywords: میوپاتی غیرمالی; Diaphragm; Nebulin; Respiratory failure; Nemaline myopathy;
Keywords: میوپاتی غیرمالی; Nemaline myopathy; NEB; Whole exome sequencing; Comparative genomic hybridization; Copy number variation;
Keywords: میوپاتی غیرمالی; 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 غیرمالی; Nemaline myopathy; Intranuclear rod myopathy; Hypoxic ischemic encephalopathy; Congenital myopathy; Magnetic resonance imaging
Keywords: میوپاتی غیرمالی; nemaline myopathy; cardiomyopathy; arrhythmias; heart failure; sudden cardiac death; cardiac involvement
Keywords: میوپاتی غیرمالی; Nemaline myopathy; ACTA1; Deep resequencing; Next-generation sequencer; Low-grade somatic mosaicism;
Keywords: میوپاتی غیرمالی; Congenital muscular dystrophy; Congenital myopathy; Ullrich congenital muscular dystrophy; Nemaline myopathy; Central core myopathy; Centronuclear myopathy; Merosin deficiency congenital muscular dystrophy;
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen
Keywords: میوپاتی غیرمالی; Sporadic late-onset nemaline myopathy; Monoclonal gammopathy; Nemaline body; Nemaline myopathy; Myopathy; Treatment;
Topical ReviewClinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature
Keywords: میوپاتی غیرمالی; Nemaline myopathy; ACTA1; congenital myopathy; muscle biopsy;
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
Keywords: میوپاتی غیرمالی; Nemaline myopathy; KLHL40;
Nemaline myopathies: State of the art
Keywords: میوپاتی غیرمالی; Congenital myopathy; Nemaline myopathy; Skeletal muscle pathology;
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Nemaline rods; Zebra bodies; Congenital myopathy; ACTA1
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy
Keywords: میوپاتی غیرمالی; Nemaline myopathy; ACTA1; Deletion; Dominant negative; Loss of function;
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy
Keywords: میوپاتی غیرمالی; TPM2; TPM3; Congenital myopathy; Congenital fiber type disproportion; Nemaline myopathy;
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations
Keywords: میوپاتی غیرمالی; Nemaline myopathy; ACTA1; Dominant;
Targeted array comparative genomic hybridization - A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes
Keywords: میوپاتی غیرمالی; Nebulin; NEB; Array comparative genomic hybridization (aCGH); NM-CGH; Copy number variation; Deletion; Nemaline myopathy;
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle
Keywords: میوپاتی غیرمالی; ACTA1; Act88F; Drosophila; IFM; Nemaline myopathy; Actin; Striated muscle; Muscle disease;
Intranuclear rods myopathy with autonomic dysfunction
Keywords: میوپاتی غیرمالی; Intranucler rods myopathy; Nemaline myopathy; Autonomic dysfunction
KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase
Keywords: میوپاتی غیرمالی; Nemaline Myopathy; Muscle; BTB and Kelch domain containing 13 protein; Cullin 3; Ubiquitin ligase
Congenital myopathy caused by a novel missense mutation in the CFL2 gene
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Congenital myopathy; CFL2; Cofilin-2; Myofibrillar myopathy;
Myopathies associated with β-tropomyosin mutations
Keywords: میوپاتی غیرمالی; Tropomyosin; Myopathy; Nemaline myopathy; Cap disease; Congenital myopathy; Distal arthrogryposis; Escobar syndrome;
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations
Keywords: میوپاتی غیرمالی; Actin; Nemaline myopathy; Intellectual disturbance; Brain
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Intranuclear rods; ACTA1
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Distal myopathy; Nebulin; Mutations;
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Nebulin; Muscle weakness; Cross-bridge cycling; Thin filament length;
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele
Keywords: میوپاتی غیرمالی; ACTA1; Nemaline myopathy; Monoallelic mutations; Adjacent mutations;
A TPM3 mutation causing cap myopathy
Keywords: میوپاتی غیرمالی; Cap myopathy; Congenital myopathy; Nemaline myopathy; Tropomyosin; TPM2; TPM3; Congenital fiber type disproportion
Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy
Keywords: میوپاتی غیرمالی; Non-lethal multiple pterygium syndrome; Nemaline myopathy; TPM2 gene; Escobar variant
Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies
Keywords: میوپاتی غیرمالی; ACTA1; Mutation; Nemaline myopathy; Congenital fibre type disproportion; Genotype–phenotype; Analysis; Functional studies; Actin; Polymerisation; Contractility
α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells
Keywords: میوپاتی غیرمالی; Actin; Nemaline myopathy; Myoblast; Myotube; Cell death;
What’s new in congenital myopathies?
Keywords: میوپاتی غیرمالی; Congenital myopathy; Nemaline myopathy; Central core disease; Centronuclear myopathy; Congenital fibre type disproportion
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Autosomal dominant; TPM3; Clinical phenotype; Variable histopathological phenotype; Fibre-typing
A case of neuromuscular mimicry
Keywords: میوپاتی غیرمالی; ALS; Bulbar; Nemaline myopathy; Late onset; Sarcoidosis
Muscle slowness in a family with nemaline myopathy
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Muscle slowness; Relaxation;
‘Cap myopathy’: Case report of a family
Keywords: میوپاتی غیرمالی; Cap myopathy; Nemaline myopathy
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Hypertrophic cardiomyopathy; ACTA1; Mutation;
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Skeletal muscle alpha actin (ACTA1); Stop codon mutations
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Intranuclear rods; Intranuclear rod myopathy; Congenital myopathy; ACTA1; α-actin;
Tracheostomy in children with nemaline core myopathy
Keywords: میوپاتی غیرمالی; Nemaline myopathy; Tracheostomy; Obstructive sleep apnoea; Mechanical ventilation;
Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy
Keywords: میوپاتی غیرمالی; Actin; Skeletal muscle; Cardiac; Development; Nemaline myopathy;