Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; Parents; Sense of coherence;
مقالات ISI دیستروفی عضلانی کمربند کمربند (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 کمربند; Calpain 3; Exon-10; Calpain 1; Calpain 2; Polymorphism; Limb-girdle muscular dystrophy;
Keywords: دیستروفی عضلانی کمربند کمربند; Duchenne muscular dystrophy; Dystrophin; Sarcoglycan; limb-girdle muscular dystrophy; Dysferlin; Dystroglycan;
Keywords: دیستروفی عضلانی کمربند کمربند; Muscular dystrophy; Echocardiography; Cardiac strain; Cardiomyopathy; BMD; Becker muscular dystrophy; CINRG; Cooperative International Neuromuscular Research Group; CS; Circumferential strain; DMD; Duchenne muscular dystrophy; DTI; Doppler tissue imaging;
Keywords: دیستروفی عضلانی کمربند کمربند; Becker muscular dystrophy; Limb-girdle muscular dystrophy; Rehabilitation; Training; Gait; Dynamic postural balance;
Keywords: دیستروفی عضلانی کمربند کمربند; ACE; angiotensin-converting enzyme; ANF; atrial natriuretic factor; BNP; brain natriuretic peptide; DCM-CD; dilated cardiomyopathy with conduction defects; EDMD; Emery-Dreifuss muscular dystrophy; EHT; engineered heart tissue; KI; knock-in; KO; knock-ou
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; Calpain 3; Dysferlin; Sarcoglycan; Fukutin-related protein; Anoctamin 5; Lamin A/C;
Case reportLate-onset limb-girdle muscular dystrophy caused by GMPPB mutations
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; Alpha-dystroglycan; GMPPB gene; Late-onset;
New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle
Keywords: دیستروفی عضلانی کمربند کمربند; Popeye domain containing; cAMP signalling; Heart disease; Stress-induced bradycardia; Atrioventricular block; Limb-girdle muscular dystrophy; Protein interaction;
Calpain-14 and its association with eosinophilic esophagitis
Keywords: دیستروفی عضلانی کمربند کمربند; Calpains; calpain-14; calpainopathy; IL-13; desmoglein-1; epithelial barrier; enzymes; food allergy; genetics; eosinophils; eosinophilic esophagitis; limb-girdle muscular dystrophy; myositis; Asn; Asparagine; CAPN; Calpain; CAPNS; Calpain small subunit; C
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Keywords: دیستروفی عضلانی کمربند کمربند; 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
CAV3 mutation in a patient with transient hyperCKemia and myalgia
Keywords: دیستروفی عضلانی کمربند کمربند; Caveolin-3; Caveolinopathy; Limb-girdle muscular dystrophy; LGMD1C;
Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis
Keywords: دیستروفی عضلانی کمربند کمربند; POMT1; Dystroglycanopathies; Chicken; Walker-Warburg syndrome; CMD; Congenital muscular dystrophy; DG; dystroglycan; DGC; Dystrophin-binding glycoprotein complex; FCMD; Fukuyama's Disease; Gg; Gallus gallus; Hs; Homo sapiens; LGMD; Limb-Girdle Muscular Dy
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy
Keywords: دیستروفی عضلانی کمربند کمربند; LAMA2; Limb-girdle muscular dystrophy; The next generation sequencing; Multiplex ligation dependent probe amplification; Array comparative genomic hybridization
TRIM32 ubiquitin E3 ligase, one enzyme for several pathologies: From muscular dystrophy to tumours
Keywords: دیستروفی عضلانی کمربند کمربند; TRIM; tripartite motif; RING; really interesting new gene; NHL, NCL-1; HT2A and lin-41; LGMD; limb-girdle muscular dystrophy; XIAP; X-linked inhibitor of apoptosis; PIAS; protein inhibitor of activated STAT; NDRG2; N-myc downstream regulated gene 2; Abi2;
Case reportConserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; Telethonin; Immunohistochemistry; Western blot;
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Keywords: دیستروفی عضلانی کمربند کمربند; ISPD; Alpha-dystroglycan; Dystroglycanopathies; Congenital muscular dystrophy; Limb-girdle muscular dystrophy;
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; DNAJB6 gene; Childhood-onset
A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; DNAJB6; Zebrafish; Magnetic resonance imaging; Human genetics
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients
Keywords: دیستروفی عضلانی کمربند کمربند; aDG; alpha dystroglycan; DGC; dystrophin-glycoprotein complex; DAG; dystroglycan; LGMD2I; limb-girdle muscular dystrophy type 2I; FKRP; fukutin-related protein; MDC1C; congenital muscular dystrophy type 1C; WGA; wheat germ agglutinin; HRP; horseradish per
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; DNAJB6; Exome sequencing
Case reportScapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite
Keywords: دیستروفی عضلانی کمربند کمربند; Hutterite; Limb-girdle muscular dystrophy; Sarcotubular myopathy; Scapuloperoneal muscular dystrophy; TRIM32; Vacuolar myopathy;
Phosphorylation of connexin43 on S279/282 may contribute to laminopathy-associated conduction defects
Keywords: دیستروفی عضلانی کمربند کمربند; DCM-CD; Dilated Cardiomyopathy with Conduction System Disease; EDMD; Emery-Dreifuss Muscular dystrophy; LGMD; Limb-Girdle Muscular Dystrophy; Cx43; Connexin43; MAPK; Mitogen-Activated Protein Kinase; ERK; Extracellular Signal-Regulated Kinase; MEF; Mous
Value of muscle enzyme measurement in evaluating different neuromuscular diseases
Keywords: دیستروفی عضلانی کمربند کمربند; DMD/BMD; Duchene/Becker muscular dystrophy; FSHD; facioscapulohumeral muscular dystrophy; LGMD; limb-girdle muscular dystrophy; PM; polymyositis; LSM; lipid storage myopathy; MND; motor neuron disease; SMA; spinal muscular atrophy; Muscle enzymes; Neuromu
Cardiac Management in Neuromuscular Diseases
Keywords: دیستروفی عضلانی کمربند کمربند; Duchenne muscular dystrophy; Becker muscular dystrophy; Myotonic muscular dystrophy; Emery-Dreifuss muscular dystrophy; Limb-girdle muscular dystrophy;
Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; Sarcoglycan null; Cardiac function; Dyssynchrony
Respiratory pattern in an adult population of dystrophic patients
Keywords: دیستروفی عضلانی کمربند کمربند; Muscular dystrophy; Limb-Girdle Muscular dystrophy; Facio-Scapulo Humeral Dystrophy; Becker Muscular Dystrophy; Respiratory pattern; Pulmonary function; Chest Wall kinematics
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation
Keywords: دیستروفی عضلانی کمربند کمربند; Myofibrillar myopathy; Limb-girdle muscular dystrophy; Cardiomyopathy; Giant axons; Bcl-2-associated athanogene 3 (BAG3);
Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication
Keywords: دیستروفی عضلانی کمربند کمربند; Lamin A/C; Limb-girdle muscular dystrophy; Dilated cardiomyopathy;
A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
Keywords: دیستروفی عضلانی کمربند کمربند; Filaminopathy; Filamin C; Ig-like repeat; Myofibrillar myopathy; Desmin related myopathy; Limb-girdle muscular dystrophy
In dystrophic hamsters losartan affects control of ventilation and dopamine D1 receptor density
Keywords: دیستروفی عضلانی کمربند کمربند; Angiotensin II receptor blocker; Limb-girdle muscular dystrophy; Dopamine D1 receptor; Hypoxia; Hypercapnia
Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; Multiplex ligation-dependent probe amplification (MLPA) assay; Copy number variation
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H
Keywords: دیستروفی عضلانی کمربند کمربند; SNP array; Limb-girdle muscular dystrophy; TRIM32
Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; sarcoglycan; calpain 3; dysferlin; dystroglycan;
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene
Keywords: دیستروفی عضلانی کمربند کمربند; Desmin; Desmin-related myopathy; Dilated cardiomyopathy; Myopathy; Heart block; Limb-girdle muscular dystrophy
Avascular necroses inducing limb-girdle syndrome
Keywords: دیستروفی عضلانی کمربند کمربند; Avascular necrosis; Disuse myopathy; Limb-girdle muscular dystrophy
Different early pathogenesis in myotilinopathy compared to primary desminopathy
Keywords: دیستروفی عضلانی کمربند کمربند; Myotilin; Titin; Limb-girdle muscular dystrophy; Distal myopathy; Tibial muscular dystrophy; Myofibrillar myopathy; Inclusion body myopathy; Desmin
Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions
Keywords: دیستروفی عضلانی کمربند کمربند; Dysferlin; Limb-girdle muscular dystrophy; Miyoshi myopathy; Mutation analysis; Computer based structural predictions
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
Keywords: دیستروفی عضلانی کمربند کمربند; Limb-girdle muscular dystrophy; LGMD2A; Calpain-3; Genetic epidemiology;
L'amyotrophie bulbaire et spinale liée au chromosome X : une étude clinique, neurophysiologique et moléculaire de 12 patients issus de 4 familles
Keywords: دیستروفی عضلانی کمربند کمربند; Amyotrophie bulbaire et spinale; Gène du récepteur aux androgènes; Expansions de polyglutamines; Dystrophie musculaire des ceintures; Maladie de Kennedy; X-linked spinal and bulbar muscular atrophy; Androgen receptor gene; Polyglutamine expansions; CAG