388 results on '"Kawarai, T."'
Search Results
2. Experimental Study on Dynamic Behaviors of Flexural Strengthened RC Beams with AFRP Sheet Having 1660 g/m2 Mass Under Consecutive Impact Loading
3. Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation
4. Further Analysis of the Nicastrin: Presenilin Complex
5. Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation
6. Effects on gene expression
7. HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family
8. Clinico-genetic study of two Japanese pedigrees with hereditary spastic paraparesis and Alzheimer’s disease
9. Clinical and molecular profile of a Japanese cohort of patients with dyskinesia
10. Neuronal inclusion formation and axonal degeneration in mutant TFG transgenic mice
11. Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics
12. SulA-independent filamentation of Escherichia coli during growth after release from high hydrostatic pressure treatment
13. Effects of short-chain fatty acids on Actinomyces naeslundii biofilm formation
14. A large Calabrian kindred segregating frontotemporal dementia
15. Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
16. The effects of APOE and tau gene variability on risk of frontotemporal dementia
17. High brachial-ankle pulse wave velocity is associated with white matter hyperintensity: PO20120
18. Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of Beta-catenin, a component of the presenilin protein complex
19. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity
20. A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia
21. Spastic paraplegia in Romania: high prevalence of SPG4 mutations
22. Hereditary spastic paraplegia and Alzheimer’s disease: clinical and genetic study of a Brazilian family
23. Silver syndrome variant of hereditary spastic paraplegia: Identification of a novel locus: 5
24. Further Analysis of the Nicastrin: Presenilin Complex
25. Démence fronto-temporale familiale avec inclusions marquées par l’anti-ubiquitine dans le tronc cérébral
26. Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes
27. ORGANAIZATION OF THE HUMAN ORPHAN NUCLEAR RECEPTOR NURR1 GENE.
28. Molecular epidemiology of dystonia in Japan
29. Cohort profile of the Japan Dystonia Consortium: Genetic diagnosis and characteristics of movement disorders in Japan
30. A new SPG4/SPAST mutation in an Italian family with hereditary spastic paraplegia and Alzheimer's disease
31. Clinicopathological co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis
32. Clinical and genetic study of a Japanese family with complicated hereditary spastic paraplegia and Alzheimer's disease
33. Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
34. Hereditary spastic paraplegia type 31: a novel splice site donor mutation and intra-familial phenotypic variability
35. Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
36. A homozygous loss-of-function mutation in DNAJA3 causes HMSN type V
37. A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)
38. Epidemiological, clinical, and genetic study in a large cohort of patients with spastic paraplegia
39. Hereditary spastic paraplegia and Alzheimer's disease: hypothesis of a founder effect of a SPG4/SPAST mutation
40. A clinico-genetic study in a large cohort of patients with hereditary spastic paraplegia type 4 (SPG4)
41. Epidemiological, clinical, and genetic study in a large cohort of patients with spastic paraplegia
42. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation
43. Neuropathological investigation of transgenic mice overexpressing hTFG harboring HMSN-P mutation
44. Distinguishing features of amyloid polyneuropathy on nerve ultrasound
45. Mutations of KMT2B cause involuntary movements with intellectual disability
46. Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability
47. Hereditary spastic paraplegia type 31: A novel splice site donor mutation and intra-familial phenotypic variability
48. An autopsied case with novel mutated hereditary diffuse leukoencephalopathy with spheroid (HDLS)
49. Germline mosaicism of TUBB4A mutation causes dystonia in two siblings
50. Identification of SPG11/KIAA1840 mutations in patients with autosomal recessive axonal Charcot-Marie-Tooth disease
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