Works matching AU Noguchi, Satoru
Results: 66
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 169, doi. 10.1002/humu.24307
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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
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
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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
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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.
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- 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
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
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- Publication type:
- Article
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
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- 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.
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- JAMA Neurology, 2020, v. 77, n. 7, p. 872, doi. 10.1001/jamaneurol.2020.0673
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- Publication type:
- Article
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
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- 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
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
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
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.
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- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2669, doi. 10.1093/hmg/ddm220
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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
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 8, p. 1279, doi. 10.1093/hmg/ddl045
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- Publication type:
- Article
cDNA microarray analysis of individual Duchenne muscular dystrophy patients.
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- Human Molecular Genetics, 2003, v. 12, n. 6, p. 595, doi. 10.1093/hmg/ddg065
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- Publication type:
- Article
Muscle pathology of antisynthetase syndrome according to antibody subtypes.
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- Brain Pathology, 2023, v. 33, n. 4, p. 1, doi. 10.1111/bpa.13155
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- Publication type:
- Article
Superconductivity of (Pb<sub>0.75</sub>W<sub>0.25</sub>)Sr<sub>2</sub>(RE<sub>0.5</sub>Ca<sub>0.5</sub>)Cu<sub>2</sub>O<sub>z</sub> (RE = Nd, Sm, Eu, Gd, Dy, Ho, Er, Tm, Yb, and Y) by Annealing in N<sub>2</sub> Gas.
- Published in:
- Journal of Superconductivity & Novel Magnetism, 2020, v. 33, n. 12, p. 3667, doi. 10.1007/s10948-020-05628-6
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- Publication type:
- Article
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients.
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- 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.
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- 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.
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- 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.
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- 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.
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- 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
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- Publication type:
- Article
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.
- Published in:
- 2019
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- Publication type:
- journal article
TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy.
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- Annals of Neurology, 2011, v. 69, n. 6, p. 1005, doi. 10.1002/ana.22338
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- Publication type:
- Article
Advances in understanding of the natural history, mechanism, extra‐muscular manifestations and treatment of GNE myopathy.
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- Neurology & Clinical Neuroscience, 2022, v. 10, n. 6, p. 289, doi. 10.1111/ncn3.12583
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- Publication type:
- Article
Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells.
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- Journal of Biochemistry, 2004, v. 135, n. 6, p. 709, doi. 10.1093/jb/mvh086
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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
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- Publication type:
- Article
A recurrent homozygous ACTN2 variant associated with core myopathy.
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- 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.
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- Acta Neuropathologica, 2010, v. 119, n. 4, p. 481, doi. 10.1007/s00401-010-0660-7
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- Publication type:
- Article
New aspects of π-d interactions in magnetic molecular conductors.
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- Science & Technology of Advanced Materials, 2009, v. 10, n. 2, p. 1, doi. 10.1088/1468-6996/10/2/024302
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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
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
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- 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
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- Publication type:
- Article
Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in Beta-sarcoglycan-deficient mice.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 9, p. 1589, doi. 10.1093/hmg/8.9.1589
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- Publication type:
- Article
Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E).
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1953, doi. 10.1093/hmg/5.12.1953
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- Publication type:
- Article
Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841
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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
Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.
- Published in:
- 2022
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- Publication type:
- Literature Review
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
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
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.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 3, p. 1, doi. 10.1111/nan.12787
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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
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