239 results on '"Kurashige, Takashi"'
Search Results
2. Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients
3. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
4. Comparison of two families with and without ataxia harboring novel variants in PRKCG
5. Clinical and Pathological Features of FTDP‐17 with MAPT p.K298_H299insQ Mutation
6. Clinical characteristics and tumor markers in ischemic stroke patients with active cancer
7. Short-term or long-term outcomes for stroke patients with cancer according to biological markers
8. Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
9. Analysis of genetic risk factors in Japanese patients with Parkinson’s disease
10. Correction: Comparison of two families with and without ataxia harboring novel variants in PRKCG
11. The first Japanese case of primary familial brain calcification caused by an MYORG variant
12. Correction to: FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
13. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report
14. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy
15. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia
16. Anti-HMGCR myopathy: clinical and histopathological features, and prognosis
17. Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
18. The impact that myocarditis for post-acute COVID-19 syndrome may be dermatomyositis-like myocarditis: A case report
19. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
20. Apolipoprotein E genotype-dependent accumulation of amyloid β in APP-knock-in mouse model of Alzheimer's disease
21. ‘Raisin bread sign’ feature of pontine autosomal dominant microangiopathy and leukoencephalopathy
22. Prevalences of Peripheral Arterial Disease Diagnosed by Computed Tomography Angiography in Patients with Acute Ischemic Stroke
23. Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients
24. Molecular and clinical characterization of H3 K27M-mutant “non-midline” glioblastoma: A case report and literature review
25. Tetraspanin heterogeneity of small extracellular vesicles in human biofluids and brain tissue
26. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients
27. Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
28. Advanced gallbladder cancer accompanied with cancer-associated dermatomyositis: A case report and literature review
29. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis
30. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions
31. Clinical characteristics and tumor markers in ischemic stroke patients with active cancer
32. Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report
33. Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging
34. Pembrolizumab‐caused polyradiculoneuropathy as an immune‐related adverse event
35. A Case of Spontaneous Regression of Small-cell Lung Cancer with Paraneoplastic Cerebellar Degeneration
36. Phosphatidylinositol-4,5-bisphosphate is enriched in granulovacuolar degeneration bodies and neurofibrillary tangles
37. Anti-nuclear matrix protein 2 antibody-positive dermatomyositis with the preferential involvement of neck extensors: a case report
38. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation
39. Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients
40. Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report
41. Localization of CHMP2B-immunoreactivity in the brainstem of Lewy body disease
42. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing
43. C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8
44. Anti-HMGCR Antibody-Positive Myopathy Shows Bcl-2-Positive Inflammation and Lymphocytic Accumulations
45. Anti-HMGCR myopathy: clinical and histopathological features, and prognosis.
46. Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report.
47. Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation
48. A mutantMATR3mouse model to explain multisystem proteinopathy
49. Synphilin-1 has neuroprotective effects on MPP+-induced Parkinson’s disease model cells by inhibiting ROS production and apoptosis
50. Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions
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