Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Prevalence; Dystroglycanopathies; ISPD; GMPPB; B3GALTN2; COL6A1-A2-A3; LAMA2; SEPN1; LMNA;
مقالات ISI دیستروفی عضلانی مادرزادی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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.
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 مادرزادی; Congenital myopathy; Congenital muscular dystrophy; Congenital myasthenic syndrome; Genetics; Next generation sequencing;
Keywords: دیستروفی عضلانی مادرزادی; ECM; extracellular matrix; Fn; Fibronectin; BM; basement membrane; DGC; Dystrophin-glycoprotein complex; UGC; Utrophin-glycoprotein complex; NMJ; Neuromuscular junction; MTJ; myotendinous junction; HSPG; heparin sulfate proteoglycan; EMT; epithelial to me
Keywords: دیستروفی عضلانی مادرزادی; Laminin alpha-2 deficiency; Merosin; White matter abnormality; Congenital muscular dystrophy; Genetics; LAMA2
Keywords: دیستروفی عضلانی مادرزادی; Activities of daily living; Disability evaluation; Neuromuscular diseases; Rehabilitation; ACTIVLIM; activity limitations for patients with upper and/or lower limb impairments; CI; confidence interval; CMD; congenital muscular dystrophy; GMFCS; Gross Moto
Keywords: دیستروفی عضلانی 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: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Congenital myopathy; Ullrich congenital muscular dystrophy; Nemaline myopathy; Central core myopathy; Centronuclear myopathy; Merosin deficiency congenital muscular dystrophy;
Keywords: دیستروفی عضلانی مادرزادی; Targeted resequencing; Congenital muscular dystrophy; Alpha-dystroglycan;
Keywords: دیستروفی عضلانی مادرزادی; CMD; congenital muscular dystrophy; DGC; dystrophin glycoprotein complex; DMD; Duchenne muscular dystrophy; ECM; extracellular matrix; IKK; inhibitor of I kappa B kinase α; LGMD; limb-girdle muscular dystrophy; MAPK; mitogen-activated protein kinase; NF-
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Collagen VI-related muscular dystrophy; Laminin alpha 2-related dystrophy; Upper extremity measures; QUEST, Jebsen, Motor Function Measure;
Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis
Keywords: دیستروفی عضلانی مادرزادی; 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
Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI
Keywords: دیستروفی عضلانی مادرزادی; Magnetic resonance imaging; Fetal; Cerebellum; Brainstem; Congenital muscular dystrophy; Tubulinopathy; Ventriculomegaly
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Zebrafish; α-dystroglycan; Mannosylation; Glycosylation;
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Keywords: دیستروفی عضلانی مادرزادی; ISPD; Alpha-dystroglycan; Dystroglycanopathies; Congenital muscular dystrophy; Limb-girdle muscular dystrophy;
LAMA2-related congenital muscular dystrophy complicated by West syndrome
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; LAMA2; Laminin α2 deficiency; West syndrome
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients
Keywords: دیستروفی عضلانی مادرزادی; 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
Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; L-CMD; LMNA gene mutation; White matter lesions; Dropped head phenotype;
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation
Keywords: دیستروفی عضلانی مادرزادی; 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 مادرزادی; Merosin-deficient; Congenital muscular dystrophy; Limb girdle muscular dystrophy; Laminin α2; Laminin α5; Peripheral neuropathy
Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort
Keywords: دیستروفی عضلانی مادرزادی; congenital muscular dystrophy; dropped-head syndrome; LMNA gene; laminopathy; muscle biopsy; genetics;
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
Keywords: دیستروفی عضلانی مادرزادی; POMT1; Protein O-mannosylation; Dystroglycanopathy; Walker-Warburg syndrome; Congenital muscular dystrophy; Limb girdle muscular dystrophy;
Diagnostic approach to the congenital muscular dystrophies
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Collagen VI; Laminin alpha2; Alpha-dystroglycan; SEPN1; Lamin A/C; RYR1; Diagnostic guideline;
Report on the Myomatrix Conference April 22-24, 2012, University of Nevada, Reno, Nevada, USA
Keywords: دیستروفی عضلانی مادرزادی; αDG-MD; α-dystroglycan related muscular dystrophy; Bax; Bcl-2-associated X protein; Bcl2; B-cell lymphoma 2; CMD; Congenital Muscular Dystrophy; COL6; Collagen 6; ECM; extracellular matrix; FKRP; Fukutin-related protein; IKK; IκB kinase; LAMA2-MD; LA
The AChE membrane-binding tail PRiMA is down-regulated in muscle and nerve of mice with muscular dystrophy by merosin deficiency
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; AChE-T down-regulation; BuChE up-regulation; Peripheral neuropathy;
DOK7 limb-girdle myasthenic syndrome mimicking congenital muscular dystrophy
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Congenital myasthenic syndromes; Limb-girdle myasthenic syndrome;
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
Keywords: دیستروفی عضلانی مادرزادی; CDG; congenital disorder of glycosylation; DPM; dolichol-P-mannose synthase; DLO; dolichol-linked oligosaccharides; ER; endoplasmic reticulum; CK; creatine kinase; MRI; magnetic resonance imaging; EEG; electroencephalogram; CGH; comparative genomic hybrid
Eye and Brain Abnormalities in Congenital Muscular Dystrophies Caused by Fukutin-Related Protein Gene (FKRP) Mutations
Keywords: دیستروفی عضلانی مادرزادی; Fukutin-related protein gene (FKRP); eye; brain; magnetic resonance imaging (MRI); congenital muscular dystrophy;
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Alpha dystroglycan; Heart; Respiratory;
Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Muscle-eye-brain (MEB) disease; POMGnT1; Alpha-dystroglycanopathy; Alpha dystroglycan; Glycosylation; Glycosyltransferase;
Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Epidemiology; Differential diagnosis;
Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression
Keywords: دیستروفی عضلانی مادرزادی; Retina; Ribbon synapse; Dystroglycan; Pikachurin; Congenital muscular dystrophy; Protein glycosylation;
Inflammatory changes in infantile-onset LMNA-associated myopathy
Keywords: دیستروفی عضلانی مادرزادی; Inflammatory myopathy; Laminopathy; Emery-Dreifuss muscular dystrophy; Limb girdle muscular dystrophy; Congenital muscular dystrophy; LMNA; Infantile; Pathology; Steroid therapy; Muscle image;
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Fukutin mutation; Walker-Warburg syndrome; Fukuyama congenital muscular dystrophy; FCMD; FKTN
Improved muscle strength and mobility in the dy2J/dy2J mouse with merosin deficient congenital muscular dystrophy treated with Glatiramer acetate
Keywords: دیستروفی عضلانی مادرزادی; dy2J/dy2J mice; Congenital muscular dystrophy; Glatiramer acetate; Regeneration; Fibrosis; Anti-inflammatory agent
Direct effects of the pathogenic mutation on satellite cell function in muscular dystrophy
Keywords: دیستروفی عضلانی مادرزادی; Satellite cell; Stem cell; Skeletal muscle; Muscular dystrophy; Congenital muscular dystrophy
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Keywords: دیستروفی عضلانی مادرزادی; POMT2; α-Dystroglycan; α-Dystroglycanopathy; Congenital muscular dystrophy; Limb girdle muscular dystrophy; Brain MRI
A new phenotype of dysferlinopathy with congenital onset
Keywords: دیستروفی عضلانی مادرزادی; Dysferlin; Congenital muscular dystrophy; LGMD2B
LAMA2 stop-codon mutation: Merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Laminin α2 deficiency; Focal epilepsy; Absence-like status; Cortical dysplasia; Micropolygyria
Glycosylation diseases: Quo vadis?
Keywords: دیستروفی عضلانی مادرزادی; Congenital disease; Glycosylation; Congenital muscular dystrophy; Glycogene; Protein targets of glycosylation; Glycoprotein synthesis; Classification problem; Diagnostic problem; Therapeutic problem; Look into the future
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; POMT2; Genomic deletion; O-glycosylation; α-Dystroglycanopathy
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Biglycan; α-Dystroglycan; Collagen VI
Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene
Keywords: دیستروفی عضلانی مادرزادی; Muscle–eye–brain disease; POMGnT1; Congenital muscular dystrophy
Targeting of acetylcholinesterase to lipid rafts of muscle
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Laminin-2; DIGs; GPI-anchored proteins
Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies
Keywords: دیستروفی عضلانی مادرزادی; POMT1; POMT2; POMGnT1; Congenital muscular dystrophy; Enzyme activity
POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Alpha-dystroglycanopathy; POMT1; POMT2; Mental retardation
Differential diagnosis of congenital muscular dystrophies
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Early presentation; Differential diagnosis; Congenital myopathy; Arthrogryposis; Emery-Dreifuss muscular dystrophy
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy
Keywords: دیستروفی عضلانی مادرزادی; CMD, congenital muscular dystrophy; NMD, nonsense-mediated mRNA decay; SSCP, Single strand conformation polymorphismLaminin; MDC1A; Congenital muscular dystrophy; mRNA splicing; NMD
A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; α-dystroglycanopathy; POMT1 gene
An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Progressive external ophthalmoplegia; Bulbar syndrome; Merosin; α-DystroglycanBAEPs, brainstem auditory evoked potentials; CK, creatine kinase; CMD, MDC, congenital muscular dystrophy; COL6, collagen type VI; COX, cytochrome
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes
Keywords: دیستروفی عضلانی مادرزادی; Congenital muscular dystrophy; Dystroglycan; Glycosylation; POMT2