Keywords: دیستروفی عضلانی کمربند کمر; Muscular dystrophy; Duchenne muscular dystrophy; Limb girdle muscular dystrophy; Facioscapulohumeral muscular dystrophy; Respiratory failure; Cardiomyopathy;
مقالات ISI دیستروفی عضلانی کمربند کمر (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: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; inflammatory myopathy; inflammatory dystrophy; muscle MRI;
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Calpainopathy; Human growth hormone;
Keywords: دیستروفی عضلانی کمربند کمر; LGMD; limb girdle muscular dystrophy; CK; creatine kinase levels; MG53; mitsugumin 53; Cx; connexins; TRPV2; transient receptor potential vanilloid type 2; STB; syncytiotrophoblasts; Muscular dystrophies; Dysferlin; Dysferlinopathies; Membrane repair; Ves
Keywords: دیستروفی عضلانی کمربند کمر; CK; creatine kinase; DMD; Duchenne muscular dystrophy; EHD; Eps15 homology domain; FC; founder cell; FCM; fusion competent myoblasts; LGMD; limb girdle muscular dystrophy; PH; pleckstrin homology; PIP2; phosphatidylinositol 4,5-bisphosphate; PS; phosphati
Keywords: دیستروفی عضلانی کمربند کمر; EMG; Electromyography; EAM; Eosinophilic-associated myopathies; HES; Hypereosinophilic syndrome; LGMD; Limb girdle muscular dystrophy; MRI; Magnetic resonance imaging; MBP; Major basic protein; Eosinophilia-associated myopathies; Eosinophilic myositis; Eo
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 کمربند کمر; 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
Case reportClinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Laminin α2; Collagen VI; Muscle MRI;
Case reportRare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient
Keywords: دیستروفی عضلانی کمربند کمر; Telethonin deficiency; LGMD2G; TCAP; Limb girdle muscular dystrophy;
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Congenital myasthenic syndrome; GMPPB; Mutation hotspot; Muscle MRI;
Research articleEffects of (â)-epicatechin on frontal cortex DAPC and dysbindin of the mdx mice
Keywords: دیستروفی عضلانی کمربند کمر; DMD; Duchenne muscular dystrophy; DAPC; dystrophin-associated protein complex; Dp; dystrophin; Epi; (â)-epicatechin; GABAARs; γ-aminobutyric acid type A receptors-containing synapses; LGMD; limb girdle muscular dystrophy; mdx; dystrophin deficient mous
Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; FKRP; Dystroglycan; Laminin α2;
A 'second truncation' in TTN causes early onset recessive muscular dystrophy
Keywords: دیستروفی عضلانی کمربند کمر; Titin; Titinopathy; Limb girdle muscular dystrophy; Exome sequencing; Dilated cardiomyopathy;
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Alpha-dystroglycan; Dolichol-P-mannose synthase; DPM3;
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Keywords: دیستروفی عضلانی کمربند کمر; Whole-exome sequencing; Pompe disease; Glycogen storage disease type II; Limb girdle muscular dystrophy; Acid-alpha-1,4-glucosidase deficiency; GAA; ATAV; Analysis Tool for Annotated Variants; BWA; Burrows-Wheeler Aligner; CAP; College of American Patholo
Membrane repair of human skeletal muscle cells requires Annexin-A5
Keywords: دیستروفی عضلانی کمربند کمر; Anx, annexins; AnxA5, Annexin-A5; LGMD, limb girdle muscular dystrophy; Ca2 +, calcium; PS, phosphatidylserine; TEM, transmission electron microscopyAnnexin A5; Membrane repair; Skeletal muscle; Limb girdle muscular dystrophy; Laser injury; Electron micr
Dysferlinopathy in Iran: Clinical and genetic report
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Dysferlin; Dysferlinopathy; Iran; Epidemiology; Mutation; Miyoshi disease;
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
Keywords: دیستروفی عضلانی کمربند کمر; Next generation sequencing; Muscular dystrophy; LGMD2L; Anoctamin; NGS screening; Targeted resequencing; Limb girdle muscular dystrophy;
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation
Keywords: دیستروفی عضلانی کمربند کمر; POMT2; α-Dystroglycanopathy; α-Dystroglycan glycosylation; Limb girdle muscular dystrophy; Congenital muscular dystrophy;
Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathy
Keywords: دیستروفی عضلانی کمربند کمر; Merosin-deficient; Congenital muscular dystrophy; Limb girdle muscular dystrophy; Laminin α2; Laminin α5; Peripheral neuropathy
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
Keywords: دیستروفی عضلانی کمربند کمر; POMT1; Protein O-mannosylation; Dystroglycanopathy; Walker-Warburg syndrome; Congenital muscular dystrophy; Limb girdle muscular dystrophy;
6th Dysferlin Conference, 3-6 April 2013, Arlington, Virginia, USA
Keywords: دیستروفی عضلانی کمربند کمر; Dysferlin; Muscular dystrophy; Limb girdle muscular dystrophy; LGMD;
Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis — A cross sectional survey
Keywords: دیستروفی عضلانی کمربند کمر; Fracture; Calcium; 25-Hydroxyvitamin D; Osteoporosis; Limb girdle muscular dystrophy; Myopathy
ANO5 mutations in the Dutch limb girdle muscular dystrophy population
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; LGMD; Anoctamin 5; Frequency;
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Array CGH; TRIM32;
Muscle pathology in 31 patients with calpain 3 gene mutations
Keywords: دیستروفی عضلانی کمربند کمر; limb girdle muscular dystrophy; CAPN3; calpain; muscle biopsydystrofia obręczowo-kończynowa; CAPN3; kalpaina; biopsja mięśni
CÅur et sarcoglycanopathies
Keywords: دیستروفی عضلانی کمربند کمر; Sarcoglycanopathies; Myopathie des ceintures; Complexe glycoprotéine-dystrophine; Cardiomyopathie; Sarcoglycanopathy; Limb girdle muscular dystrophy; Dystrophin-glycoprotein complex; Cardiomyopathy;
Inflammatory changes in infantile-onset LMNA-associated myopathy
Keywords: دیستروفی عضلانی کمربند کمر; Inflammatory myopathy; Laminopathy; Emery-Dreifuss muscular dystrophy; Limb girdle muscular dystrophy; Congenital muscular dystrophy; LMNA; Infantile; Pathology; Steroid therapy; Muscle image;
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
Keywords: دیستروفی عضلانی کمربند کمر; Limb Girdle Muscular Dystrophy; FKRP
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Keywords: دیستروفی عضلانی کمربند کمر; POMT2; α-Dystroglycan; α-Dystroglycanopathy; Congenital muscular dystrophy; Limb girdle muscular dystrophy; Brain MRI
Eosinophilic myositis as presenting symptom in γ-sarcoglycanopathy
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; LGMD2C; γ-Sarcoglycanopathy; Eosinophilic myositis;
Balance control in patients with distal versus proximal muscle weakness
Keywords: دیستروفی عضلانی کمربند کمر; balance control; dynamic posturography; limb girdle muscular dystrophy; distal spinal muscular atrophy; ANOVA; analysis of variance; COM; centre of mass; EMG; electromyographic; IREDs; infrared emitting diodes; LGMD; limb girdle muscular dystrophy; MRC; m
Caveolinopathy – New mutations and additional symptoms
Keywords: دیستروفی عضلانی کمربند کمر; Caveolin-3; Rippling muscle disease; Limb girdle muscular dystrophy; Myalgia; Myoglobinuria; Hypoglycaemia
Dystrobrevins in muscle and non-muscle tissues
Keywords: دیستروفی عضلانی کمربند کمر; Dystrobrevins; Dystrobrevin-binding proteins; Muscular dystrophy; AChRs; acetylcholine receptors; α-DB; alpha-dystrobrevin; BMD; Becker muscular dystrophy; BLOC-1; biogenesis of lysosome-related organelles complex-1; CMD; congenital muscular dystrophy; D
Ins and outs of therapy in limb girdle muscular dystrophies
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Gene; Cell and pharmacological therapy; Skeletal muscle;
Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes
Keywords: دیستروفی عضلانی کمربند کمر; Limb girdle muscular dystrophy; Genetic heterogeneity
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E
Keywords: دیستروفی عضلانی کمربند کمر; Dysferlin; Heterozygote diagnosis; LGMD; Limb girdle muscular dystrophy; Sarcoglycan
The Childhood Limb-Girdle Muscular Dystrophies
Keywords: دیستروفی عضلانی کمربند کمر; limb girdle muscular dystrophy; translational research; management; dystrophin-glycoprotein complex; genetics
Genetic background influences muscular dystrophy
Keywords: دیستروفی عضلانی کمربند کمر; DGC; dystrophin glycoprotein complex; EBD; Evans blue dye; HOP; hydroxyproline; LGMD; limb girdle muscular dystrophy; DMD; duchenne muscular dystrophy; Muscular dystrophy; Dystrophin; Sarcoglycan; Genetic modifier;
δ-Sarcoglycan is required for early zebrafish muscle organization
Keywords: دیستروفی عضلانی کمربند کمر; Muscular dystrophy; Limb girdle muscular dystrophy; Sarcoglycan; Zebrafish; Sarcolemmal membrane; Myosepta; DAPC;