1,282 results on '"Matsuo, Masafumi"'
Search Results
2. All reported non-canonical splice site variants in GLA cause aberrant splicing
3. A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T
4. Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A
5. Electrocardiographic R wave amplitude in V6 lead as a predictive marker of cardiac dysfunction in Duchenne muscular dystrophy
6. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
7. Assessment of catabolic state in infants with the use of urinary titin N-fragment
8. Clinical Utility of Synthesized 18-Lead Electrocardiography.
9. Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing
10. Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes
11. FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
12. Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome
13. Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy
14. Differential metabolic secretion between muscular dystrophy mouse-derived spindle cell sarcomas and rhabdomyosarcomas drives tumor type development.
15. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
16. The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy
17. Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report
18. A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series
19. Onset mechanism of a female patient with Dent disease 2
20. Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
21. Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
22. Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.
23. Urinary titin as an early biomarker of skeletal muscle proteolysis and atrophy in various catabolic conditions
24. Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
25. A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a with G6PC c.648G>T
26. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
27. Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study
28. Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy
29. Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer
30. Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
31. A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome
32. A novel splice variant of the human MSTN gene encodes a myostatin‐specific myostatin inhibitor
33. Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup
34. Dystrophin Dp71ab is monoclonally expressed in human satellite cells and enhances proliferation of myoblast cells
35. Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy
36. Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
37. Titin fragment in urine: A noninvasive biomarker of muscle degradation
38. Urinary Titin Is a Novel Biomarker for Muscle Atrophy in Nonsurgical Critically Ill Patients: A Two-Center, Prospective Observational Study
39. A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
40. Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes
41. A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
42. Staurosporine allows dystrophin expression by skipping of nonsense-encoding exon
43. Contributions of Japanese patients to development of antisense therapy for DMD
44. Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
45. Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
46. Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts
47. Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS
48. Natural history of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy: a retrospective study at a single referral center in Japan
49. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients
50. Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.