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Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Subretinal Precipitates of Retinal Detachments Associated with Intraocular Tumors.
- Published in:
- Ophthalmologica, 1988, v. 197, n. 3, p. 120, doi. 10.1159/000309931
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- Publication type:
- Article
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01084-4
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- Publication type:
- Article
A nationwide survey on marinesco-sjögren syndrome in Japan.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-58
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- Publication type:
- Article
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6274, doi. 10.3390/ijms23116274
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- Publication type:
- Article
Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1952, doi. 10.3390/ijms17111952
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- Publication type:
- Article
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 59, doi. 10.1007/s00439-022-02485-2
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- Publication type:
- Article
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
- Published in:
- Genes to Cells, 2014, v. 19, n. 11, p. 830, doi. 10.1111/gtc.12181
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- Publication type:
- Article
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24644-1
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- Publication type:
- Article
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
- Published in:
- Nature Medicine, 2009, v. 15, n. 6, p. 690, doi. 10.1038/nm.1956
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- Publication type:
- Article
Complex IV subunit isoform COX6A2 protects fast‐spiking interneurons from oxidative stress and supports their function.
- Published in:
- EMBO Journal, 2020, v. 39, n. 18, p. 1, doi. 10.15252/embj.2020105759
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- Publication type:
- Article
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Characterization of a regulatory gene, aveR, for the biosynthesis of avermectin in Streptomyces avermitilis.
- Published in:
- Applied Microbiology & Biotechnology, 2009, v. 82, n. 6, p. 1089, doi. 10.1007/s00253-008-1850-2
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- Publication type:
- Article
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.
- Published in:
- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0056-4
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- Publication type:
- Article
Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice.
- Published in:
- Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02514-3
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- Publication type:
- Article
Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052002
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- Publication type:
- Article
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
- Published in:
- Current Neurology & Neuroscience Reports, 2005, v. 5, n. 1, p. 61, doi. 10.1007/s11910-005-0025-0
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- Publication type:
- Article
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 3, p. 284, doi. 10.1002/mus.27451
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- Publication type:
- Article
Quantification of lectin fluorescence in GNE myopathy muscle biopsies.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Clinical and genetic analysis of lipid storage myopathies.
- Published in:
- Muscle & Nerve, 2009, v. 39, n. 3, p. 333, doi. 10.1002/mus.21167
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- Publication type:
- Article
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
- Published in:
- Muscle & Nerve, 2008, v. 38, n. 3, p. 1192, doi. 10.1002/mus.21030
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- Publication type:
- Article
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.
- Published in:
- Muscle & Nerve, 2007, v. 35, n. 3, p. 322, doi. 10.1002/mus.20691
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- Publication type:
- Article
From dystrophinopathy to sarcoglycanopathy: Evolution of a concept of muscular dystrophy.
- Published in:
- Muscle & Nerve, 1998, v. 21, n. 4, p. 421, doi. 10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B
- By:
- Publication type:
- Article
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
- Published in:
- Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4
- By:
- Publication type:
- Article
Cys669–Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association.
- Published in:
- Genes to Cells, 2007, v. 12, n. 1, p. 75, doi. 10.1111/j.1365-2443.2006.01033.x
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- Publication type:
- Article
Advances in understanding of the natural history, mechanism, extra‐muscular manifestations and treatment of GNE myopathy.
- Published in:
- Neurology & Clinical Neuroscience, 2022, v. 10, n. 6, p. 289, doi. 10.1111/ncn3.12583
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- Publication type:
- Article
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01482-w
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- Publication type:
- Article
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 7, p. 853, doi. 10.1001/jamaneurol.2021.1509
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- Publication type:
- Article
Association of Dermatomyositis Sine Dermatitis With Anti–Nuclear Matrix Protein 2 Autoantibodies.
- Published in:
- JAMA Neurology, 2020, v. 77, n. 7, p. 872, doi. 10.1001/jamaneurol.2020.0673
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- Publication type:
- Article
A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review.
- Published in:
- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 4, p. 1, doi. 10.1111/nan.13004
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- Publication type:
- Article
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 3, p. 1, doi. 10.1111/nan.12787
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- Publication type:
- Article
Causative variant profile of collagen VI-related dystrophy in Japan.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2670, doi. 10.1093/brain/awu210
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- Publication type:
- Article
Central core disease is due to RYR1 mutations in more than 90% of patients.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 6, p. 1470
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- Publication type:
- Article
Visualizing Muscle Sialic Acid Expression in the GNE<sub>D207V</sub><sup>Tg</sup>Gne<sup>-/-</sup> Cmah<sup>-/-</sup> Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 53, doi. 10.3233/JND-200575
- By:
- Publication type:
- Article
Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells.
- Published in:
- Journal of Biochemistry, 2004, v. 135, n. 6, p. 709, doi. 10.1093/jb/mvh086
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- Publication type:
- Article
Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle.
- Published in:
- Journal of Biochemistry, 2003, v. 133, n. 5, p. 659, doi. 10.1093/jb/mvg084
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- Publication type:
- Article
Muscle pathology of antisynthetase syndrome according to antibody subtypes.
- Published in:
- Brain Pathology, 2023, v. 33, n. 4, p. 1, doi. 10.1111/bpa.13155
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- Publication type:
- Article
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
- Published in:
- 2019
- By:
- Publication type:
- journal article
TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy.
- Published in:
- Annals of Neurology, 2011, v. 69, n. 6, p. 1005, doi. 10.1002/ana.22338
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- Publication type:
- Article
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 12, p. 5988, doi. 10.1007/s00415-023-11906-9
- By:
- Publication type:
- Article
Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.621
- By:
- Publication type:
- Article
Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 11, p. 1006, doi. 10.1093/hmg/ddab100
- By:
- Publication type:
- Article
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 16, p. 3081, doi. 10.1093/hmg/ddx192
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- Publication type:
- Article
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca<sup>2+</sup> channels.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 637, doi. 10.1093/hmg/ddu477
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- Publication type:
- Article
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305
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- Publication type:
- Article
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 2, p. 235, doi. 10.1007/s00401-022-02530-4
- By:
- Publication type:
- Article
A recurrent homozygous ACTN2 variant associated with core myopathy.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 4, p. 785, doi. 10.1007/s00401-021-02363-7
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- Publication type:
- Article
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 4, p. 481, doi. 10.1007/s00401-010-0660-7
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- Publication type:
- Article