1,588 results on '"Nishino, I."'
Search Results
2. VP291 The clinical, imaging and genetic characteristics in a large cohort of LGMDR1 patients from an Egyptian referral center
3. VP259 Decoding Duchenne muscular dystrophy: insights from single nuclei RNA-seq analysis
4. VP119 Myotendinous junction abnormalities on skeletal muscle imaging common to COL6-related myopathies, ADSS1 myopathy and JAG2 myopathy
5. P310 Direct measure of D4Z4 repetition in FSHD1 patients by applying comprehensive BLAST using nanopore sequencing
6. P325 A comparative single nuclei transcriptomics approach to evaluating the terminally differentiated lymphocytes in autoimmune myositis
7. VP334 Clinicopathological features of anti-mitochondrial M2 antibody-positive myositis based on a cohort of 201 patients from Japan
8. VP349 Long-term observations of advanced Pompe disease patients treated with enzyme replacement therapy: improvement and clinical problems
9. VP118 A large cohort study of muscle imaging in GNE myopathy: progression profile and diagnostic tips to distinguish from other distal myopathies
10. O08 Single-nucleus RNA sequencing reveals characteristic gene expression in pathologically-specific myofibers in oculopharyngodistal myopathy
11. P316 Disability questionnaire of FSHD1 correlates with the in-person examination
12. VP.65 Screening of small molecules for activation of GNE protein carrying non-catalytic site mutation based on molecular docking simulation
13. VP.66 CRISPR/Cas9-targeted single molecule long-read sequencing reveals allelic microheterogeneity of triplet repeat expansion in oculopharyngodistal myopathy
14. VP.46 Dermatomyositis-specific autoantibodies and muscle MRI findings
15. P.11 Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with congenital myopathy
16. P.178 Clinical classification of variants in the valosin containing protein gene associated with multisystem proteinopathy
17. VP.05 Innervation defect: new pathomechanism of centronuclear myopathy?
18. Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy
19. NEW INSIGHTS INTO CELLULAR OR MUSCLE FUNCTION
20. DMD/BMD - GENETICS
21. DISTAL MYOPATHIES
22. LGMD
23. DISTAL MYOPATHIES
24. AUTOIMMUNE & INFLAMMATORY NMD
25. FSHD
26. AUTOIMMUNE & INFLAMMATORY NMD
27. FSHD
28. Genotype-phenotype correlations in valosin containing protein disease: an international multicentric audit, the VCP International Study Group
29. OMICs AND AI APPROACHES FOR MUSCLE DISEASES
30. AUTOIMMUNE MYOPATHIES
31. CONGENITAL MUSCULAR DYSTROPHIES
32. NEW GENES IN NEUROMUSCULAR DISEASES
33. FSHD / OPMD / MYOTONIC DYSTROPHY
34. AUTOIMMUNE MYOPATHIES
35. CONGENITAL MYOPATHIES 2
36. AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE
37. AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE
38. FSHD / OPMD / MYOTONIC DYSTROPHY
39. MUSCLE FUNCTION & HOMEOSTASIS / MOLECULAR THERAPEUTIC APPROACHES
40. Juvenile autophagic vacuolar myopathy – a new entity or variant?
41. Characterization of the Asian myopathy patients with VCP mutations
42. Muscular Dystrophies
43. Myositis with sarcoplasmic inclusions in Nakajo–Nishimura syndrome: a genetic inflammatory myopathy
44. P.181Focal muscle contraction of biceps brachii - a clinical sign highly specific to dysferlinopathy
45. P.384Single cell RNA-seq unravels the molecular pathomechanism for collagen VI-related disorders in murine model
46. P.161ADSSL1 myopathy is a fatigability disease presenting both nemaline bodies and lipid droplets in skeletal muscles – A study of 57 Japanese cases
47. O.37AI-based muscle histopathologist can differentiate major muscular dystrophies better than human
48. P.230Phenotype and pathological variability in RYR1-related myopathy with compound heterozygous variants in Japan
49. Muscle pathology of anti-Mi-2 dermatomyositis is characterized by perifascicular necrosis and perimysial change
50. P.344Assessment of longitudinal developmental milestones in Fukuyama congenital muscular dystrophy
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