347 results on '"Hashiguchi, Akihiro"'
Search Results
2. Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum
3. HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report
4. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
5. Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
6. Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
7. An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
8. Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
9. The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan
10. Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy
11. Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan
12. Visual Evoked Potentials in MOG Antibody-associated Disease (P9-14.007)
13. CGG Repeat Expansion in LRP12 Causes Inherited Peripheral Neuropathy (S3.006)
14. Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation
15. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
16. Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum
17. Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2
18. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
19. Genetic, electrophysiological, and pathological studies on patients with SCN9A‐related pain disorders
20. The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan
21. Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
22. Clinical phenotypic diversity ofNOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan
23. Charcot–Marie–Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease
24. Clinical diversity caused by novel IGHMBP2 variants
25. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
26. Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan
27. Charcot-Marie-Tooth Disease with A Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
28. Efficacy of l ‐Arginine treatment in patients with HTLV‐1‐associated neurological disease
29. Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan
30. Peripheral neuropathy in a case with CADASIL: a case report
31. Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study
32. Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
33. Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan
34. A case of successful renal transplantation of Charcot‐Marie‐Tooth disease associated with FSGS due to mutation of the INF2 gene
35. Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible
36. Novel heterozygous variants ofSLC12A6in Japanese families with Charcot–Marie–Tooth disease
37. A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
38. Novel de novoPOLR3Bmutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan
39. Mutations in MME cause an autosomal-recessive Charcot–Marie–Tooth disease type 2
40. A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant
41. An MFN2-related Charcot-Marie-Tooth Disease Patient with Optic Nerve Atrophy, Neurogenic Bladder Dysfunction, and Diaphragmatic Weakness
42. Nerve ultrasound depicts peripheral nerve enlargement in patients with genetically distinct Charcot-Marie-Tooth disease
43. Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation
44. Efficacy of l‐Arginine treatment in patients with HTLV‐1‐associated neurological disease.
45. A family with IVIg-responsive Charcot–Marie–Tooth disease
46. Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
47. Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation
48. Vincristine exacerbates asymptomatic Charcot–Marie–Tooth disease with a novel EGR2 mutation
49. Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs
50. Charcot–Marie–Tooth disease with a mutation in FBLN5 accompanying with the small vasculitis and widespread onion-bulb formations
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