624 results on '"Saito, Kayoko"'
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2. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)
3. Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)
4. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
5. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
6. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
7. Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
8. Precision cancer genome testing needs proficiency testing involving all stakeholders
9. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
10. Epidemiological investigation of spinal muscular atrophy in Japan
11. Lifesaving Treatments for Spinal Muscular Atrophy: Global Access and Availability (P5-4.003)
12. Phenotypes of SMA patients retaining SMN1 with intragenic mutation
13. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
14. Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan
15. Analysis of spinal muscular atrophy-like patients by targeted resequencing
16. Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry
17. Sunfish parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)
18. Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)
19. Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
20. Renal dysfunction is rare in Fukuyama congenital muscular dystrophy
21. Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan
22. Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification
23. Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2
24. Spinal muscular atrophy carriers with two SMN1 copies
25. Effective Valproic Acid Treatment in Motor Function Is Caused by Possible Mechanism of Elevated Survival Motor Neuron Protein Related With Splicing Factor Gene Expression in Spinal Muscular Atrophy
26. Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients
27. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA
28. SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
29. The gross motor function measure is valid for Fukuyama congenital muscular dystrophy
30. Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2
31. Replication stress increases mitochondrial metabolism and mitophagy in FANCD2 deficient fetal liver hematopoietic stem cells
32. Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan
33. Respiratory management of patients with Fukuyama congenital muscular dystrophy
34. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor
35. A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer
36. Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA
37. Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners
38. Learning colorectal endoscopic submucosal dissection: a prospective learning curve study using a novel ex vivo simulator
39. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders
40. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients
41. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
42. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
43. Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals
44. Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and Two Copies of SMN2 (S39.004)
45. Effectiveness and Safety of Onasemnogene Abeparvovec in Older Patients with Spinal Muscular Atrophy (SMA): Real-World Outcomes from the RESTORE Registry (S39.002)
46. The RESTORE Registry: Real-World Assessments of Interventions and Long-Term Outcomes in Patients with Spinal Muscular Atrophy (SMA) (P15-5.002)
47. Health Care Resource Utilization in Spinal Muscular Atrophy Type 1 Patients in Japan: Results of a Global Caregiver Survey (P16-5.004)
48. Onasemnogene Abeparvovec in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with Three Copies of SMN2 (P15-5.001)
49. The RESTORE Registry: Comparative Outcomes in Patients with Spinal Muscular Atrophy (SMA) in the United States Identified by Newborn Screening (NBS) or Clinical Diagnosis (P15-5.003)
50. Enhanced expression of myogenic differentiation factors and skeletal muscle proteins in human amnion-derived cells via the forced expression of MYOD1
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