Works matching AU Nishino, Ichizo
Results: 266
Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.
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- 2016
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- Publication type:
- Letter
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
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- Publication type:
- journal article
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
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- Human Mutation, 2022, v. 43, n. 2, p. 169, doi. 10.1002/humu.24307
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- Publication type:
- Article
Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype.
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- Human Mutation, 2015, v. 36, n. 4, p. 443, doi. 10.1002/humu.22760
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- Publication type:
- Article
A case of eosinophilic fasciitis without skin manifestations: a case report in a patient with lupus and literature review.
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- Clinical Rheumatology, 2021, v. 40, n. 6, p. 2477, doi. 10.1007/s10067-020-05416-6
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- Publication type:
- Article
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
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- Human Genetics, 2020, v. 139, n. 2, p. 247, doi. 10.1007/s00439-019-02107-4
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- Publication type:
- Article
GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 959, doi. 10.3233/JND-230130
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- Publication type:
- Article
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 555, doi. 10.3233/JND-230029
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- Publication type:
- Article
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 459, doi. 10.3233/JND-221669
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- Publication type:
- Article
Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 619, doi. 10.3233/JND-220792
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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.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 53, doi. 10.3233/JND-200575
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- Publication type:
- Article
History and Perspective of LAMP-2 Deficiency (Danon Disease).
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- Biomolecules (2218-273X), 2024, v. 14, n. 10, p. 1272, doi. 10.3390/biom14101272
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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.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0056-4
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- Publication type:
- Article
Beta‐propeller protein–associated neurodegeneration presenting Rett‐like features: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 579, doi. 10.1002/ajmg.a.61993
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- Publication type:
- Article
Association Between HLA Alleles and Autoantibodies in Dermatomyositis Defined by Sarcoplasmic Expression of Myxovirus Resistance Protein A.
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- Journal of Rheumatology, 2023, v. 50, n. 9, p. 1159, doi. 10.3899/jrheum.2022-1321
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- Publication type:
- Article
Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca<sup>2+</sup> and AMPK/SIRT1.
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- Nature, 2010, v. 464, n. 7293, p. 1313, doi. 10.1038/nature08991
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- Publication type:
- Article
Association of immune‐mediated necrotizing myopathy with HLA polymorphisms.
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- HLA: Immune Response Genetics, 2023, v. 101, n. 5, p. 449, doi. 10.1111/tan.14950
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- Publication type:
- Article
Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques.
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- Journal of Cell Biology, 2020, v. 219, n. 9, p. 1, doi. 10.1083/jcb.201912061
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- Publication type:
- Article
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
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- 2022
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- Publication type:
- Case Study
Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy.
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- 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
Treatment experience of Taiwanese patients with anti‐3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase myopathy.
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- Kaohsiung Journal of Medical Sciences, 2020, v. 36, n. 8, p. 649, doi. 10.1002/kjm2.12240
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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
Mutation Spectrum of Primary Lipid Storage Myopathies.
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- Annals of Indian Academy of Neurology, 2022, v. 25, n. 1, p. 106, doi. 10.4103/aian.aian_333_21
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- Publication type:
- Article
Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.
- Published in:
- 2016
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- Publication type:
- journal article
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
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- Human Mutation, 2011, v. 32, n. 7, p. 773, doi. 10.1002/humu.21501
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- Publication type:
- Article
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy.
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- Human Mutation, 1999, v. 13, n. 2, p. 170, doi. 10.1002/(SICI)1098-1004(1999)13:2<170::AID-HUMU12>3.0.CO;2-7
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- Publication type:
- Article
Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.78419
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- Publication type:
- Article
ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.
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- Genes to Cells, 2015, v. 20, n. 2, p. 121, doi. 10.1111/gtc.12201
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- Publication type:
- Article
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
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- Genes to Cells, 2014, v. 19, n. 11, p. 830, doi. 10.1111/gtc.12181
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- Publication type:
- Article
Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.
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- Genes to Cells, 2011, v. 16, n. 9, p. 961, doi. 10.1111/j.1365-2443.2011.01542.x
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- Publication type:
- Article
Cys669–Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association.
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- 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
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.
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- Clinical Endocrinology, 1996, v. 45, n. 5, p. 637, doi. 10.1046/j.1365-2265.1996.00856.x
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- Publication type:
- Article
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Publication type:
- Article
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 129, doi. 10.1038/jhg.2013.133
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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.
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- 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.
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- Journal of Human Genetics, 2012, v. 57, n. 3, p. 219, doi. 10.1038/jhg.2011.152
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- Publication type:
- Article
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.
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- Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8
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- Publication type:
- Article
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.
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- Journal of Human Genetics, 2006, v. 51, n. 6, p. 555, doi. 10.1007/s10038-006-0397-2
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- Publication type:
- Article
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
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- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305
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- Publication type:
- Article
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.
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- Human Molecular Genetics, 2010, v. 19, n. 1, p. 170, doi. 10.1093/hmg/ddp477
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- Publication type:
- Article
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401
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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.
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- 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.
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- 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.
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- 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
Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease.
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- Human Molecular Genetics, 2003, v. 12, n. 5, p. 527, doi. 10.1093/hmg/ddg043
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- Publication type:
- Article
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.
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- European Neurology, 2020, v. 83, n. 3, p. 317, doi. 10.1159/000508346
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- Publication type:
- Article
Immune-mediated necrotizing myopathy in a multi-ethnic Malaysian cohort.
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- Neurology Asia, 2021, v. 26, n. 2, p. 291
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- Publication type:
- Article