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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 7, p. 2819, doi. 10.1007/s10072-020-04876-7
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- Publication type:
- Article
Levofloxacin-induced hemichorea-hemiballism in a patient with previous thalamic infarction.
- Published in:
- 2018
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- Publication type:
- Case Study
Acute inflammatory demyelinating polyneuropathy as a manifestation of chronic lymphoproliferative disorder of NK cells.
- Published in:
- 2015
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- Publication type:
- Letter
Toll‐like receptors and IL‐7 as potential biomarkers for immune‐mediated necrotizing myopathies.
- Published in:
- European Journal of Immunology, 2023, v. 53, n. 11, p. 1, doi. 10.1002/eji.202250326
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- Publication type:
- Article
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
- Published in:
- 2020
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- Publication type:
- journal article
Immunoblot as a potential diagnostic tool for myofibrillar myopathies.
- Published in:
- Electrophoresis, 2015, v. 36, n. 24, p. 3097, doi. 10.1002/elps.201500277
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- Publication type:
- Article
Chronic Graft-Versus-Host-Disease-Related Polymyositis: a 17-Months-Old Child with a Rare and Late Complication of Haematopoietic Stem Cell Transplantation.
- Published in:
- Mediterranean Journal of Hematology & Infectious Diseases, 2020, v. 12, n. 1, p. 1, doi. 10.4084/MJHID.2020.002
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- Publication type:
- Article
Autophagy, Inflammation and Innate Immunity in Inflammatory Myopathies.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111490
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- Publication type:
- Article
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 5, p. 567, doi. 10.1002/mus.27391
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- Publication type:
- Article
Benign acute viral myositis in African migrants: A clinical, serological, and pathological study.
- Published in:
- 2019
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- Publication type:
- journal article
Non-Hematologic Toxicity of Bortezomib in Multiple Myeloma: The Neuromuscular and Cardiovascular Adverse Effects.
- Published in:
- Cancers, 2020, v. 12, n. 9, p. 2540, doi. 10.3390/cancers12092540
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- Publication type:
- Article
Human Skeletal Muscle as a Target Organ of Trichloroethylene Toxicity.
- Published in:
- 2005
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- Publication type:
- Letter
Human skeletal muscle as a target organ of trichloroethylene toxicity.
- Published in:
- 2005
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- Publication type:
- Case Study
Amyloid-β42 is preferentially accumulated in muscle fibers of patients with sporadic inclusion-body myositis.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 5, p. 569, doi. 10.1007/s00401-009-0511-6
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- Publication type:
- Article
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases.
- Published in:
- Acta Neuropathologica, 2002, v. 103, n. 3, p. 215, doi. 10.1007/s004010100455
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- Publication type:
- Article
Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies.
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- Histopathology, 2015, v. 67, n. 6, p. 859, doi. 10.1111/his.12715
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- Publication type:
- Article
Diagnostic performance and validation of autoantibody testing in myositis by a commercial line blot assay.
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- Rheumatology, 2010, v. 49, n. 12, p. 2370, doi. 10.1093/rheumatology/keq281
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- Publication type:
- Article
A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 705, doi. 10.1111/cge.14413
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- Publication type:
- Article
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
- Published in:
- European Journal of Neuroscience, 2022, v. 56, n. 3, p. 4214, doi. 10.1111/ejn.15728
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- Publication type:
- Article
Increased Expression of the Normal Cellular Isoform of Prion Protein in Inclusion-Body Myositis, Inflammatory Myopathies and Denervation Atrophy.
- Published in:
- Brain Pathology, 2001, v. 11, n. 2, p. 182, doi. 10.1111/j.1750-3639.2001.tb00390.x
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- Publication type:
- Article
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 5, p. 1414, doi. 10.1007/s00415-020-09729-z
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- Publication type:
- Article
Pisa syndrome in Parkinson's disease: an electrophysiological and imaging study.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 8, p. 2138, doi. 10.1007/s00415-013-6945-8
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- Publication type:
- Article
Dermatomyositis and Retroperitoneal Germ Cell Cancer.
- Published in:
- European Neurology, 2001, v. 45, n. 1, p. 52, doi. 10.1159/000052090
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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
Skeletal muscle extracellular matrix is remodeled by physical training in a murine model of Down syndrome.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 200
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- Publication type:
- Article
Physical training promotes remodeling of the skeletal muscle extracellular matrix: An ultrastructural study in a murine model of Down syndrome.
- Published in:
- Microscopy Research & Technique, 2023, v. 86, n. 11, p. 1517, doi. 10.1002/jemt.24379
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- Publication type:
- Article
Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle fibres in patients with mitochondrial disorders.
- Published in:
- Clinical Science, 2016, v. 130, n. 3, p. 167
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- Publication type:
- Article
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1761, doi. 10.1002/humu.23338
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- Publication type:
- Article
A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1163, doi. 10.1002/humu.22631
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- Publication type:
- Article
Cystatin C colocalizes with amyloid-β and coimmunoprecipitates with amyloid-β precursor protein in sporadic inclusion-body myositis muscles.
- Published in:
- Journal of Neurochemistry, 2003, v. 85, n. 6, p. 1539, doi. 10.1046/j.1471-4159.2003.01798.x
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- Publication type:
- Article
Sporadic Inclusion Body Myositis at the Crossroads between Muscle Degeneration, Inflammation, and Aging.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2742, doi. 10.3390/ijms25052742
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- Publication type:
- Article
Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 1014, doi. 10.3390/ijms25021014
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- Publication type:
- Article
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 14, p. 11483, doi. 10.3390/ijms241411483
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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
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- 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