Keywords: میوپاتی دیستال; Cystinosis; Distal myopathy; Slow myosin; CTNS;
مقالات ISI میوپاتی دیستال (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: میوپاتی دیستال; Myopathy; Limb-girdle; Distal myopathy; Inflammatory myopathy; Metabolic myopathy; Myotonia;
Keywords: میوپاتی دیستال; Distal myopathy; Welander myopathy; Myoshi myopathy; Nonaka myopathy; Laing myopathy; Markesbery-Griggs myopathy; Udd distal myopathy; Myofibrillar myopathy;
The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy
Keywords: میوپاتی دیستال; Matrin-3 myopathy; Distal myopathy; VCPDM; Stress granule; Cellular stress; MATR3; TIA1; G3BP1;
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
Keywords: میوپاتی دیستال; GNE myopathy; Hereditary inclusion body myopathy; Distal myopathy; Rare neuromuscular disorders; Epidemiology; Genotype-phenotype correlation;
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
Keywords: میوپاتی دیستال; MYH7; Founder mutation; Distal myopathy; Muscle MRI; Genetic linkage analysis;
Autosomal dominant distal myopathy due to a novel ACTA1 mutation
Keywords: میوپاتی دیستال; ACTA1; Distal myopathy; Foot drop; Nemaline rods; TTN;
Distal myopathy with ADSSL1 mutations in Korean patients
Keywords: میوپاتی دیستال; ADSSL1; Distal myopathy; Muscle MRI; Diagnosis; Phenotype-genotype correlation;
Matrin 3 variants are frequent in Italian ALS patients
Keywords: میوپاتی دیستال; Amyotrophic lateral sclerosis; Matrin 3; Distal myopathy; Targeted NGS sequencing;
Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene
Keywords: میوپاتی دیستال; MYH7; Laing myopathy; Distal myopathy; CMT; MRI;
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants
Keywords: میوپاتی دیستال; Digenic myopathy; Distal myopathy; Hypertrophic cardiomyopathy; MYH7; TIA1;
Déficit moteur distal : quand penser à une myopathie ?
Keywords: میوپاتی دیستال; Myopathie distale; Algorithmes diagnostiques; Déficit moteur distal; Myopathie myofibrillaire; Distal myopathy; Diagnostic algorithms; Distal motor weakness; Myofibrillar myopathy;
Myofibrillar myopathies: State of the art, present and future challenges
Keywords: میوپاتی دیستال; Myofibrillar myopathy; Distal myopathy; Muscular dystrophy; Muscle biopsy; Cardiomyopathy; Myopathie myofibrillaire; Myopathie distale; Dystrophie musculaire; Biopsie musculaire; Cardiomyopathie;
Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation
Keywords: میوپاتی دیستال; Mitochondria; Distal myopathy; MERRF syndrome;
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy
Keywords: میوپاتی دیستال; MYH7; Distal myopathy; Laing distal myopathy; Whole exome sequencing; Myosinopathies;
Distal myopathies
Keywords: میوپاتی دیستال; Distal myopathy; Muscular dystrophy; Muscle imaging; Molecular genetics; Myopathie distale; Dystrophie musculaire; Imagerie musculaire; Génétique moléculaire;
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene
Keywords: میوپاتی دیستال; Distal myopathy; Miyoshi; Elevated CK level; Anoctamin 5; Myopathie distale; Miyoshi; Taux élevé de CPK; Anoctamine 5;
Distal myopathies – New genetic entities expand diagnostic challenge
Keywords: میوپاتی دیستال; Distal myopathy; Muscular dystrophy; MRI; Molecular genetics
Novel GNE mutations in two phenotypically distinct HIBM2 patients
Keywords: میوپاتی دیستال; IBM; GNE; Distal myopathy; Rimmed vacuoles
Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family
Keywords: میوپاتی دیستال; Distal myopathy; Frontotemporal dementia; Valosin-containing protein;
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
Keywords: میوپاتی دیستال; Nemaline myopathy; Distal myopathy; Nebulin; Mutations;
A new distal myopathy with mutation in anoctamin 5
Keywords: میوپاتی دیستال; Miyoshi myopathy; Distal myopathy Miyoshi-like non-dysferlin linked; Distal myopathy; Anoctaminopathy; Muscle imaging
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
Keywords: میوپاتی دیستال; Myofibrillar myopathy; Alpha-B Crystallinopathy; Vacuolar myopathy; Distal myopathy; Filamentous inclusions; Protein aggregates
Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes
Keywords: میوپاتی دیستال; Dilated cardiomyopathy; Distal myopathy; Myosin; MPD1; LMM;
Phenotypic variability in a Spanish family with a Caveolin-3 mutation
Keywords: میوپاتی دیستال; Rippling muscle disease; Distal myopathy; Hyperckemia; Caveolin-3 gene;
Distal lipid storage myopathy due to PNPLA2 mutation
Keywords: میوپاتی دیستال; Distal myopathy; Lipid storage myopathy; Neutral lipid storage disease with myopathy; PNPLA2
Expression of caveolar components in primary desminopathy
Keywords: میوپاتی دیستال; Myofibrillar myopathy; Desminopathy; Desmin; Caveolae; Distal myopathy; Rimmed vacuole
The Hereditary Inclusion Body Myopathy Enigma and its Future Therapy
Keywords: میوپاتی دیستال; Hereditary inclusion body myopathy; sialic acid; GNE gene; distal myopathy;
Histone H1 is released from myonuclei and present in rimmed vacuoles with DNA in inclusion body myositis
Keywords: میوپاتی دیستال; Inclusion body myositis; Distal myopathy; Rimmed vacuole; Nuclear degeneration; Immunohistochemistry; Pathology
Distal inflammatory myopathy: Unusual presentation of polymyositis or new entity?
Keywords: میوپاتی دیستال; Inflammatory myopathy; Distal myopathy; Polymyositis; Inclusion body myositis; Malignant thymoma
Myopathies distales avec mutations du gène GNE : à propos de quatre cas
Keywords: میوپاتی دیستال; Myopathie distale; GNE; Vacuoles bordées; Myopathie de Nonaka; Distal myopathy; GNE; Rimmed vacuoles; Nonaka myopathy;
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation
Keywords: میوپاتی دیستال; MYH7; Distal myopathy; Val606Met; Cardiomyopathy
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family
Keywords: میوپاتی دیستال; Distal myopathy; Rimmed vacuole; DMRV; GNE gene; Heterozygous mutation
Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top
Keywords: میوپاتی دیستال; Muscular dystrophy; Distal dystrophy; Distal myopathy; Molecular genetics; Molecular pathogenesis; Molecular biology
Myotilinopathy in a family with late onset myopathy
Keywords: میوپاتی دیستال; Myotilin; Sarcomeric proteins; Distal myopathy; Myofibrillar myopathy; TTID mutations; Myotilinopathy; Phenotype;
Different early pathogenesis in myotilinopathy compared to primary desminopathy
Keywords: میوپاتی دیستال; Myotilin; Titin; Limb-girdle muscular dystrophy; Distal myopathy; Tibial muscular dystrophy; Myofibrillar myopathy; Inclusion body myopathy; Desmin
Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure
Keywords: میوپاتی دیستال; Inclusion body myopathy; Distal myopathy; Magnetic resonance imaging; Semitendinosus;