Works by Hayashi, Yukiko K.
Results: 65
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-79745-w
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- Publication type:
- Article
Treatment with the anti-IL-6 receptor antibody attenuates muscular dystrophy via promoting skeletal muscle regeneration in dystrophin-/utrophin-deficient mice.
- Published in:
- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0140-z
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- Publication type:
- Article
Renal involvement in the pathogenesis of mineral and bone disorder in dystrophin-deficient mdx mouse.
- Published in:
- Journal of Physiological Sciences, 2019, v. 69, n. 4, p. 661, doi. 10.1007/s12576-019-00683-8
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- Publication type:
- Article
Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in Lmna<sup>H222P/H222P</sup> mutant mice.
- Published in:
- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0221512
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- Publication type:
- Article
Common Data Elements for Muscle Biopsy Reporting.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2016, v. 140, n. 1, p. 51, doi. 10.5858/arpa.2014-0453-OA
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- Publication type:
- Article
Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca<sup>2+</sup> and AMPK/SIRT1.
- Published in:
- Nature, 2010, v. 464, n. 7293, p. 1313, doi. 10.1038/nature08991
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- Publication type:
- Article
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03521-2
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- Publication type:
- Article
Synaptic adhesion molecules in Cadm family at the neuromuscular junction.
- Published in:
- Cell Biology International, 2013, v. 37, n. 7, p. 731, doi. 10.1002/cbin.10092
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- Publication type:
- Article
α-1,6-Fucosyltransferase Is Essential for Myogenesis in Zebrafish.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 1, p. 144, doi. 10.3390/cells12010144
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- Publication type:
- Article
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 564, doi. 10.1038/jhg.2013.33
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- Publication type:
- Article
Myotonic dystrophy type 2 is rare in the Japanese population.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 219, doi. 10.1038/jhg.2011.152
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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
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2647, doi. 10.1093/hmg/ddm231
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- Publication type:
- Article
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2669, doi. 10.1093/hmg/ddm220
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- Publication type:
- Article
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery–Dreifuss muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 15, p. 1884, doi. 10.1093/hmg/ddm137
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- Publication type:
- Article
Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 6, p. 618, doi. 10.1093/hmg/ddm002
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- Publication type:
- Article
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 2, p. 115, doi. 10.1093/hmg/ddl446
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- Publication type:
- Article
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 5, p. 527, doi. 10.1093/hmg/ddg043
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- Publication type:
- Article
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3283, doi. 10.1093/hmg/11.26.3283
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- Publication type:
- Article
Deficiency of laminin α2-Chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. 9, p. 1027, doi. 10.1002/mus.880180918
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- Publication type:
- Article
A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency.
- Published in:
- Brain Pathology, 2018, v. 28, n. 1, p. 123, doi. 10.1111/bpa.12575
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- Publication type:
- Article
2 Month-Old Male with Hypotonia.
- Published in:
- 2015
- By:
- Publication type:
- Other
Respiratory and cardiac function in japanese patients with dysferlinopathy.
- Published in:
- 2016
- 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
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
Nuclear envelope myopathy.
- Published in:
- Neurology & Clinical Neuroscience, 2022, v. 10, n. 6, p. 298, doi. 10.1111/ncn3.12602
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- Publication type:
- Article
Case of elderly‐onset multiple acyl‐CoA dehydrogenase deficiency with a novel <italic>ETFDH</italic> mutation shows progressive muscle weakness and rhabdomyolysis.
- Published in:
- Neurology & Clinical Neuroscience, 2018, v. 6, n. 2, p. 39, doi. 10.1111/ncn3.12177
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- Publication type:
- Article
Toward the development of a vibrant, super‐aged society: The future of medicine and society in Japan.
- Published in:
- Geriatrics & Gerontology International, 2021, v. 21, n. 8, p. 601, doi. 10.1111/ggi.14201
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- 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
Affixin activates Rac1 via βPIX in C2C12 myoblast
- Published in:
- FEBS Letters, 2008, v. 582, n. 8, p. 1189, doi. 10.1016/j.febslet.2008.01.064
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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
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
- Published in:
- Neuropathology, 2016, v. 36, n. 6, p. 561, doi. 10.1111/neup.12307
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- Publication type:
- Article
Kyphoscoliosis and easy fatigability in a 14-year-old boy.
- Published in:
- Neuropathology, 2015, v. 35, n. 1, p. 91, doi. 10.1111/neup.12147
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- Publication type:
- Article
Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.
- Published in:
- 2011
- By:
- Publication type:
- Other
Dysferlinopathy associated with rigid spine syndrome.
- Published in:
- Neuropathology, 2004, v. 24, n. 4, p. 341, doi. 10.1111/j.1440-1789.2004.00573.x
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- Publication type:
- Article
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 17, p. 1761, doi. 10.1093/hmg/10.17.1761
- By:
- Publication type:
- Article
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1
- By:
- Publication type:
- Article
The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129
- By:
- Publication type:
- Article
The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1129, doi. 10.1093/hmg/10.11.1129
- By:
- Publication type:
- Article
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.
- Published in:
- PLoS Currents, 2015, p. 190, doi. 10.1371/currents.md.5865add2d766f39a0e0411d38a7ba09c
- By:
- Publication type:
- Article
Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165563
- By:
- Publication type:
- Article
Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0277-y
- By:
- Publication type:
- Article
Nationwide patient registry for GNE myopathy in Japan.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0150-4
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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
- By:
- Publication type:
- Article
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Nationwide patient registry for GNE myopathy in Japan.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-60
- By:
- Publication type:
- Article