Keywords: میوپاتی مادرزادی; Congenital myopathy; Aspiration pneumonia; Myosin heavy chain; MYH2;
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; Congenital myopathy; Congenital muscular dystrophy; Congenital myasthenic syndrome; Genetics; Next generation sequencing;
Keywords: میوپاتی مادرزادی; Congenital fiber type disproportion; Congenital myopathy; Muscle biopsy; México;
Keywords: میوپاتی مادرزادی; Nemaline myopathy; Intranuclear rod myopathy; Hypoxic ischemic encephalopathy; Congenital myopathy; Magnetic resonance imaging
Keywords: میوپاتی مادرزادی; Congenital myopathy; Nemaline rods; Nebulin (NEB) associated myopathies; Next Generation Sequencing; Whole body muscle MRI;
Keywords: میوپاتی مادرزادی; Electromyography; Progressive muscular dystrophy; Congenital myopathy;
Keywords: میوپاتی مادرزادی; Muscular dystrophy; Congenital myopathy; Targeted next-generation sequencing; Prospective diagnostic study; Chinese patients' features;
Keywords: میوپاتی مادرزادی; Congenital muscular dystrophy; Congenital myopathy; Disability evaluation; Outcome measures; RehabilitationCM, congenital myopathy; CMD, congenital muscular dystrophy; DIF, differential item functioning; MFM, Motor Function Measure; Rs-MFM25CDM, Rasch-sca
Keywords: میوپاتی مادرزادی; Congenital muscular dystrophy; Congenital myopathy; Ullrich congenital muscular dystrophy; Nemaline myopathy; Central core myopathy; Centronuclear myopathy; Merosin deficiency congenital muscular dystrophy;
Keywords: میوپاتی مادرزادی; Congenital myopathy; Diagnosis; Guidelines;
Keywords: میوپاتی مادرزادی; Congenital myopathy; Focal loss of cross striations; RYR1; Skeletal muscle ryanodine receptor; Central Core Disease (CCD); Multi-minicore Disease (MmD);
Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet
Keywords: میوپاتی مادرزادی; Native American myopathy; Pierre Robin syndrome; congenital fiber type disproportion; congenital myopathy; hypotonia; malignant hyperthermia syndrome;
Topical ReviewClinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature
Keywords: میوپاتی مادرزادی; Nemaline myopathy; ACTA1; congenital myopathy; muscle biopsy;
Case reportCongenital myopathy with “corona” fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A
Keywords: میوپاتی مادرزادی; Congenital myopathy; SCN4A; Corona fibres; Channelopathies;
WANTED - Dead or alive: Myotubularins, a large disease-associated protein family
Keywords: میوپاتی مادرزادی; Congenital myopathy; Neuropathy; GTEx database; Sbf1; Myotubular myopathy; Myotubularin; MTM; Myotubularins; PPIn; phosphoinositides; PtdIns; phosphatidylinositol; CNM; centronuclear myopathy; CMT; Charcot-Marie-Tooth neuropathy; PH-GRAM; Pleckstrin Homol
Nemaline myopathies: State of the art
Keywords: میوپاتی مادرزادی; Congenital myopathy; Nemaline myopathy; Skeletal muscle pathology;
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
Keywords: میوپاتی مادرزادی; centronuclear myopathy; myotubular myopathy; MTM1; myotubularin; congenital myopathy;
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)
Keywords: میوپاتی مادرزادی; Nemaline myopathy; Nemaline rods; Zebra bodies; Congenital myopathy; ACTA1
Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber
Keywords: میوپاتی مادرزادی; CNMDU1; Congenital myopathy; Limitation of extraoccular muscle movement; Ptosis
A Diagnostic Dilemma in a Family With Cystinuria Type B Resolved by Muscle Magnetic Resonance
Keywords: میوپاتی مادرزادی; cystinuria type B; congenital myopathy; muscle magnetic resonance; RYR1
The E117K mutation in β-tropomyosin disturbs concerted conformational changes of actomyosin in muscle fibers
Keywords: میوپاتی مادرزادی; β-Tropomyosin; Congenital myopathy; Conformational change; ATPase cycle;
Congenital fiber type disproportion myopathy caused by LMNA mutations
Keywords: میوپاتی مادرزادی; LMNA-myopathy; CFTD; Fiber type disproportion (FTD); ACTA1; TPM3; muscular dystrophy; congenital myopathy;
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy
Keywords: میوپاتی مادرزادی; TPM2; TPM3; Congenital myopathy; Congenital fiber type disproportion; Nemaline myopathy;
Novel TPM3 mutation in a family with cap myopathy and review of the literature
Keywords: میوپاتی مادرزادی; Congenital myopathy; Alpha tropomyosin slow; Caps; Muscle fibre inclusions; Genotype-phenotype correlations; Whole-body muscle MRI;
Large duplication in MTM1 associated with myotubular myopathy
Keywords: میوپاتی مادرزادی; Myotubular myopathy; Congenital myopathy; MTM1; Gene duplication; Diagnostic testing;
In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype
Keywords: میوپاتی مادرزادی; Congenital myopathy; Muscle weakness; Gene expression; 31P-MRS; Muscle mechanics;
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies
Keywords: میوپاتی مادرزادی; MyHC IIa; MYH2; Congenital myopathy; Ophthalmoplegia; Joint contractures;
Mutations in TPM2 and congenital fibre type disproportion
Keywords: میوپاتی مادرزادی; Congenital myopathy; Beta-tropomyosin; Cap myopathy; Congenital fibre type disproportion; Electron microscopy;
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2
Keywords: میوپاتی مادرزادی; Centronuclear myopathy; Dynamin 2; Congenital myopathy; Radial distribution; Clinicopathological homology
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility
Keywords: میوپاتی مادرزادی; Congenital myopathy; Malignant hyperthermia; Ptosis; Ryanodine receptor
Congenital myopathy caused by a novel missense mutation in the CFL2 gene
Keywords: میوپاتی مادرزادی; Nemaline myopathy; Congenital myopathy; CFL2; Cofilin-2; Myofibrillar myopathy;
Myopathies associated with β-tropomyosin mutations
Keywords: میوپاتی مادرزادی; Tropomyosin; Myopathy; Nemaline myopathy; Cap disease; Congenital myopathy; Distal arthrogryposis; Escobar syndrome;
de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins
Keywords: میوپاتی مادرزادی; RYR1-gene; Congenital myopathy
New molecular findings in congenital myopathies due to selenoprotein N gene mutations
Keywords: میوپاتی مادرزادی; Congenital myopathy; Selenoprotein; Gene; Mutation
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
Keywords: میوپاتی مادرزادی; DNM2; Dynamin 2; Pleckstrin homology; GTPase; Mutation; Congenital myopathy; Centronuclear myopathy; Myotubular myopathy; Charcot-Marie-Tooth neuropathy; Myotubularin; Amphiphysin; RYR1; Neonatal
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
Keywords: میوپاتی مادرزادی; Congenital fibre type disproportion (CFTD); Congenital myopathy; Tropomyosin 3 (TPM 3); Congenital myasthenia
Cap disease due to mutation of the beta-tropomyosin gene (TPM2)
Keywords: میوپاتی مادرزادی; Cap myopathy; Tropomyosin; Congenital myopathy; Cardiomyopathy; Congenital fibre type disproportion; TPM2; Beta-tropomyosin
A TPM3 mutation causing cap myopathy
Keywords: میوپاتی مادرزادی; Cap myopathy; Congenital myopathy; Nemaline myopathy; Tropomyosin; TPM2; TPM3; Congenital fiber type disproportion
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
Keywords: میوپاتی مادرزادی; ORAI1; STIM1; CRAC; calcium channel; Ca2+; store-operated Ca2+ entry; T cells; immunodeficiency; signal transduction; congenital myopathy; anhydrotic ectodermal dysplasia; dental enamel; amelogenesis imperfecta; CRAC; Ca2+ release activated Ca2+; EDA; Ect
Differential diagnosis of congenital muscular dystrophies
Keywords: میوپاتی مادرزادی; Congenital muscular dystrophy; Early presentation; Differential diagnosis; Congenital myopathy; Arthrogryposis; Emery-Dreifuss muscular dystrophy
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies
Keywords: میوپاتی مادرزادی; Congenital myopathy; Desminopathy; Cardiomyopathy; Cardiac magnetic resonance imaging; MR delayed enhancement imaging
What’s new in congenital myopathies?
Keywords: میوپاتی مادرزادی; Congenital myopathy; Nemaline myopathy; Central core disease; Centronuclear myopathy; Congenital fibre type disproportion
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus
Keywords: میوپاتی مادرزادی; Diaphragmatic weakness; Congenital myopathy; Respiratory failure;
Autosomal dominant nemaline myopathy: A new phenotype unlinked to previously known genetic loci
Keywords: میوپاتی مادرزادی; Nemaline; Congenital myopathy; Muscle weakness; Non-progressive;
Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2
Keywords: میوپاتی مادرزادی; Cap disease; Congenital myopathy; β-tropomyosin; TPM2
A benign congenital myopathy in an inbred Samaritan family
Keywords: میوپاتی مادرزادی; Congenital myopathy; Samaritans; Pseudodominant; Central nuclei
A case of congenital neuromuscular disease with uniform type 1 fibers
Keywords: میوپاتی مادرزادی; Congenital neuromuscular disease with uniform type 1 fibers; Congenital myopathy; Recurrent acute respiratory failure;
Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, αB-crystallin, myotilin, LMNA or SEPN1 genes
Keywords: میوپاتی مادرزادی; Myofibrillar myopathy; Desmin; Congenital myopathy; Cataract; Polydactyly;
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 مادرزادی; Nemaline myopathy; Intranuclear rods; Intranuclear rod myopathy; Congenital myopathy; ACTA1; α-actin;
Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis
Keywords: میوپاتی مادرزادی; Muscular dystrophy; Congenital myopathy; Congenital myasthenic syndrome; Ion channel disorder; Microsatellite marker; Linkage analysis