Works matching DE "MUSCULAR dystrophy"
Results: 2720
Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.
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- Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 187, doi. 10.1038/nsmb.1720
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- Article
Facing Muscular Dystrophy During Covid-19 Pandemic: The Role of Support Associations and Spirituality.
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- Pastoral Psychology, 2022, v. 71, n. 2, p. 217, doi. 10.1007/s11089-022-00997-2
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- Article
Reconstruction of Muscle Fascicle‐Like Tissues by Anisotropic 3D Patterning.
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- Advanced Functional Materials, 2021, v. 31, n. 25, p. 1, doi. 10.1002/adfm.202006227
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- Article
Protein–DNA array-based identification of transcription factor activities differentially regulated in skeletal muscle of normal and dystrophin-deficient mdx mice.
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- Molecular & Cellular Biochemistry, 2008, v. 312, n. 1/2, p. 17, doi. 10.1007/s11010-008-9716-6
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- Article
Nitricoxide synthase-induced oxidative stress in prolonged alcoholic myopathies of rats.
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- Molecular & Cellular Biochemistry, 2007, v. 304, n. 1/2, p. 135, doi. 10.1007/s11010-007-9494-6
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- Article
Left ventricular outflow tract arrhythmias with divergent QRS morphology: mapping of different exits and ablation strategy.
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- 2018
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- journal article
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
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- Journal of Interventional Cardiac Electrophysiology, 2007, v. 19, n. 1, p. 1, doi. 10.1007/s10840-007-9133-x
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- Article
Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9).
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- Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 7, doi. 10.1007/s10633-022-09909-4
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Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
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- Documenta Ophthalmologica, 2014, v. 129, n. 1, p. 57, doi. 10.1007/s10633-014-9444-z
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- Article
Determination of Tissue Potassium and Sodium Concentrations in Dystrophic Skeletal Muscle Tissue Using Combined Potassium (<sup>39</sup>K) and Sodium (<sup>23</sup>Na) MRI at 7 T.
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- NMR in Biomedicine, 2025, v. 38, n. 4, p. 1, doi. 10.1002/nbm.70009
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- Article
Comprehensive quantitative magnetic resonance imaging assessment of skeletal muscle pathophysiology in golden retriever muscular dystrophy: Insights from multicomponent water T2 and extracellular volume fraction.
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- NMR in Biomedicine, 2025, v. 38, n. 1, p. 1, doi. 10.1002/nbm.5278
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- Article
Quantitative muscle magnetic resonance imaging in limb‐girdle muscular dystrophy type R1 (LGMDR1): A prospective longitudinal cohort study.
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- NMR in Biomedicine, 2024, v. 37, n. 10, p. 1, doi. 10.1002/nbm.5172
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- Article
Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies.
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- Pediatric Cardiology, 2022, v. 43, n. 1, p. 27, doi. 10.1007/s00246-021-02686-y
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- Article
Relationship Between Fragmented QRS Complexes and Cardiac Status in Duchenne Muscular Dystrophy: Multimodal Validation Using Echocardiography, Magnetic Resonance Imaging, and Holter Monitoring.
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- Pediatric Cardiology, 2017, v. 38, n. 5, p. 1042, doi. 10.1007/s00246-017-1616-7
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- Article
Cardiac Disease Burden and Risk of Mortality in Hospitalized Muscular Dystrophy Patients.
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- Pediatric Cardiology, 2016, v. 37, n. 7, p. 1290, doi. 10.1007/s00246-016-1432-5
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- Article
Autonomic Dysfunction: A Driving Force for Myocardial Fibrosis in Young Duchenne Muscular Dystrophy Patients?
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- Pediatric Cardiology, 2015, v. 36, n. 3, p. 561, doi. 10.1007/s00246-014-1050-z
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- Article
Regional Circumferential Strain is a Biomarker for Disease Severity in Duchenne Muscular Dystrophy Heart Disease: A Cross-Sectional Study.
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- Pediatric Cardiology, 2015, v. 36, n. 1, p. 111, doi. 10.1007/s00246-014-0972-9
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- Article
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #609 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf)
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- Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138
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- Article
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 geneCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #609 (2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf.
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- Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138
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- Article
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report.
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- 2020
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- Publication type:
- journal article
Reciprocal amplification of ROS and Ca<sup>2+</sup> signals in stressed mdx dystrophic skeletal muscle fibers.
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- Pflügers Archiv: European Journal of Physiology, 2009, v. 458, n. 5, p. 915, doi. 10.1007/s00424-009-0670-2
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- Article
The physiological effects of IGF-1 (class 1:Ea transgene) over-expression on exercise-induced damage and adaptation in dystrophic muscles of mdx mice.
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- Pflügers Archiv: European Journal of Physiology, 2009, v. 457, n. 5, p. 1121, doi. 10.1007/s00424-008-0568-4
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- Article
Expression of the muscular dystrophy-associated caveolin-3<sup>P104L</sup> mutant in adult mouse skeletal muscle specifically alters the Ca<sup>2+</sup> channel function of the dihydropyridine receptor.
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- Pflügers Archiv: European Journal of Physiology, 2008, v. 457, n. 2, p. 361, doi. 10.1007/s00424-008-0528-z
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- Article
Systemic inhibition of bone morphogenetic protein 1.3 as a possible treatment for laminin-related congenital muscular dystrophy.
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- International Orthopaedics, 2025, v. 49, n. 1, p. 45, doi. 10.1007/s00264-024-06389-w
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- Article
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
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- Acta Neuropathologica, 2023, v. 145, n. 4, p. 479, doi. 10.1007/s00401-023-02551-7
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- Article
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
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- Acta Neuropathologica, 2022, v. 144, n. 6, p. 1157, doi. 10.1007/s00401-022-02503-7
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- Article
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
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- Acta Neuropathologica, 2020, v. 139, n. 3, p. 565, doi. 10.1007/s00401-019-02117-6
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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
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- Acta Neuropathologica, 2019, v. 138, n. 6, p. 1013, doi. 10.1007/s00401-019-02059-z
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- Article
Reduced Fatigue in Diaphragm Muscle of Merosin-Deficient dy/dy Dystrophic Mice.
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- Respiration, 2003, v. 70, n. 6, p. 636, doi. 10.1159/000075211
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Disease research: Short telomeres, damaged hearts.
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- Nature, 2013, v. 499, n. 7457, p. 129, doi. 10.1038/499129b
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- Article
Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics.
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- Nature, 2013, v. 497, n. 7450, p. 507, doi. 10.1038/nature12105
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Model pigs face messy path.
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- Nature, 2012, v. 486, n. 7404, p. 453, doi. 10.1038/486453a
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Muscular dystrophy: A hidden ancestral legacy trumped.
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- Nature, 2011, v. 478, n. 7367, p. 46, doi. 10.1038/478046a
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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
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- Nature, 2011, v. 478, n. 7367, p. 127, doi. 10.1038/nature10456
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Dynamic molecular processes mediate cellular mechanotransduction.
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- Nature, 2011, v. 475, n. 7356, p. 316, doi. 10.1038/nature10316
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- Article
Effect of Large-Conductance Calcium-Dependent K<sup>+</sup> Channel Activator NS1619 on Function of Mitochondria in the Heart of Dystrophin-Deficient Mice.
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- Biochemistry (00062979), 2023, v. 88, n. 2, p. 189, doi. 10.1134/S0006297923020037
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- Article
LGMDR1 with Prominent Limb-Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel CAPN3 Mutation: A Case Report.
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- touchREVIEWS in Neurology, 2023, v. 19, n. 1, p. 46, doi. 10.17925/USN.2023.19.1.46
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- Article
The Impact of Myotonic Muscular Dystrophy Type 1 On the Central Nervous System.
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- International Journal of High School Research, 2025, v. 7, n. 2, p. 121, doi. 10.36838/v7i2.16
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- Article
Management of Panic Disorder with Neurofeedback in Patients with Muscular Dystrophy: A Case Report.
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- Alpha Psychiatry, 2021, v. 22, n. 4, p. 219, doi. 10.5152/alphapsychiatry.2021.21135
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- Article
On genotype-phenotype relationship of dystrophinopathies among Iranian population.
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- Current Journal of Neurology, 2023, v. 22, n. 4, p. 231, doi. 10.18502/cjn.v22i4.14528
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- Article
Beevor's sign in a case of inclusion body myositis.
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- Current Journal of Neurology, 2021, v. 20, n. 1, p. 54
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Validation of Persian Individualized Neuromuscular Quality of Life in patients with muscular dystrophies.
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- Current Journal of Neurology, 2020, v. 19, n. 1, p. 13
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Optimization of Xenografting Methods for Generating Human Skeletal Muscle in Mice.
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- Cell Transplantation, 2024, v. 33, p. 1, doi. 10.1177/09636897241242624
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- Article
Activation of TMEM16E scramblase induces ligand independent growth factor receptor signaling and macropinocytosis for membrane repair.
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- Communications Biology, 2025, v. 3, n. 1, p. 1, doi. 10.1038/s42003-025-07465-6
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MEANDERINGS WATCHING THE TELETHON DURING A FALL AFTERNOON.
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- Journal of Learning Disabilities, 1985, v. 18, n. 9, doi. 10.1177/002221948501800916
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- Article
Acupuncture dans les douleurs myofasciales des neurodystrophies musculaires : quels effets?
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- Acupuncture & Moxibustion (1633-3454), 2020, v. 19, n. 1, p. 37
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Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.
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- Postepy Psychiatrii i Neurologii / Advances in Psychiatry & Neurology, 2024, v. 33, n. 2, p. 109, doi. 10.5114/ppn.2024.141382
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Perceptions of the Social and Personal Characteristics of Hypermuscular Women and of the Men Who Love Them.
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- Journal of Social Psychology, 2004, v. 144, n. 5, p. 487, doi. 10.3200/SOCP.144.5.487-506
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Nesprin provides elastic properties to muscle nuclei by cooperating with spectraplakin and EB1.
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- Journal of Cell Biology, 2015, v. 209, n. 4, p. 529, doi. 10.1083/jcb.201408098
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- Article
Neural integrity is maintained by dystrophin in C. elegans.
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- Journal of Cell Biology, 2011, v. 192, n. 2, p. 349, doi. 10.1083/jcb.201006109
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- Article