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Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/527418
- By:
- Publication type:
- Article
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 5, p. 378, doi. 10.3390/cells13050378
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- Publication type:
- Article
Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 2, p. 162, doi. 10.3390/cells13020162
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- Publication type:
- Article
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 2, p. 409, doi. 10.3390/cells9020409
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- Publication type:
- Article
Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers.
- Published in:
- Neurology India, 2012, v. 60, n. 5, p. 510, doi. 10.4103/0028-3886.103200
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- Publication type:
- Article
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 20, p. 5353, doi. 10.1093/hmg/ddu254
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- Publication type:
- Article
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 11, p. 2024, doi. 10.1093/hmg/ddp126
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- Publication type:
- Article
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy.
- Published in:
- Frontiers in Aging Neuroscience, 2016, p. 1, doi. 10.3389/fnagi.2016.00131
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- Publication type:
- Article
Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00324
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- Publication type:
- Article
Aggresome–autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene.
- Published in:
- Frontiers in Aging Neuroscience, 2014, v. 6, p. 1, doi. 10.3389/fnagi.2014.00215
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- Publication type:
- Article
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12474, doi. 10.3390/ijms241512474
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- Publication type:
- Article
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6678, doi. 10.3390/ijms24076678
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- Publication type:
- Article
Collagen VI in the Musculoskeletal System.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5095, doi. 10.3390/ijms24065095
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- Publication type:
- Article
Collagen VI is required for the structural and functional integrity of the neuromuscular junction.
- Published in:
- Acta Neuropathologica, 2018, v. 136, n. 3, p. 483, doi. 10.1007/s00401-018-1860-9
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- Publication type:
- Article
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.
- Published in:
- Nature Genetics, 2003, v. 35, n. 4, p. 367, doi. 10.1038/ng1270
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- Publication type:
- Article
Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 6, p. 1210, doi. 10.1038/mt.2010.72
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- Publication type:
- Article
Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 5, p. 820, doi. 10.1038/mt.2009.8
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- Publication type:
- Article
Ambra1 deficiency impairs mitophagy in skeletal muscle.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 4, p. 2211, doi. 10.1002/jcsm.13010
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- Publication type:
- Article
Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 3, p. 1252, doi. 10.3390/ijerph19031252
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- Publication type:
- Article
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01539-4
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- Publication type:
- Article
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.716471
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- Publication type:
- Article
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
- Published in:
- Skeletal Muscle, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13395-019-0199-9
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- Publication type:
- Article
Improving clinical trial design for Duchenne muscular dystrophy.
- Published in:
- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0408-z
- By:
- Publication type:
- Article
Improving clinical trial design for Duchenne muscular dystrophy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-59
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- Publication type:
- Article
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 73, doi. 10.1186/1471-2350-13-73
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- Publication type:
- Article
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 44, doi. 10.1186/1471-2350-11-44
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- Publication type:
- Article
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′ OMePS AON and ZM2 NP-AON Complexes in mdx Mice.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′ OMePS AON and ZM2 NP-AON Complexes in mdx Mice.
- Published in:
- Journal of Biomedicine & Biotechnology, 2012, v. 2012, p. 1, doi. 10.1155/2012/897076
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- Publication type:
- Article
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10-N7 domains.
- Published in:
- Journal of Cellular Physiology, 2006, v. 206, n. 1, p. 160, doi. 10.1002/jcp.20443
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- Publication type:
- Article
Laminopathies: Involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases.
- Published in:
- Journal of Cellular Physiology, 2005, v. 203, n. 2, p. 319, doi. 10.1002/jcp.20217
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- Publication type:
- Article
Exon skipping-mediated dystrophin reading frame restoration for small mutations.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. 1527, doi. 10.1002/humu.21092
- By:
- Publication type:
- Article
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E662, doi. 10.1002/humu.21022
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- Publication type:
- Article
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00605
- By:
- Publication type:
- Article
On the pathogenesis of collagen VI muscular dystrophies—Comment on article of Hicks et al.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration.
- Published in:
- Nature Medicine, 2010, v. 16, n. 11, p. 1313, doi. 10.1038/nm.2247
- By:
- Publication type:
- Article
Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 1, p. 99, doi. 10.1038/jid.2010.284
- By:
- Publication type:
- Article
Effect of Mechanical Strain on the Collagen VI Pericellular Matrix in Anterior Cruciate Ligament Fibroblasts.
- Published in:
- Journal of Cellular Physiology, 2014, v. 229, n. 7, p. 878, doi. 10.1002/jcp.24518
- By:
- Publication type:
- Article
Melanocytes-A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy.
- Published in:
- Journal of Cellular Physiology, 2013, v. 228, n. 6, p. 1323, doi. 10.1002/jcp.24290
- By:
- Publication type:
- Article
Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.
- Published in:
- Acta Neuropathologica, 1998, v. 96, n. 6, p. 651, doi. 10.1007/s004010050947
- By:
- Publication type:
- Article
Localization of the laminin α2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study.
- Published in:
- Acta Neuropathologica, 1997, v. 93, n. 2, p. 166, doi. 10.1007/s004010050598
- By:
- Publication type:
- Article
Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies.
- Published in:
- Muscles, Ligaments & Tendons Journal (MLTJ), 2013, v. 3, n. 4, p. 281
- By:
- Publication type:
- Article
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00723
- By:
- Publication type:
- Article
Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2011, v. 2011, p. 1, doi. 10.1155/2011/139194
- By:
- Publication type:
- Article
Altered COL6-NG2 binding impairs pericyte regenerative potential in COL6-related myopathies.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 64
- By:
- Publication type:
- Article
Histopathology of human obese adipose organ.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 48
- By:
- Publication type:
- Article
Macrophages: A minimally invasive tool for monitoring collagen VI myopathies.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 1, p. 80, doi. 10.1002/mus.21999
- By:
- Publication type:
- Article
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.
- Published in:
- 2002
- By:
- Publication type:
- journal article