571 results on '"Lee, Yi-Chung"'
Search Results
2. A missense mutation in human INSC causes peripheral neuropathy
3. Safety and Effectiveness of Intravenous Thrombolysis in Patients With CADASIL: A Multicenter Study
4. Preceding hepatitis B virus infection is highly prevalent in patients with neuromyelitis optica spectrum disorder in Taiwan
5. The GENESIS database and tools: A decade of discovery in Mendelian genomics
6. The role of adiponectin-AMPK axis in TDP-43 mislocalization and disease severity in ALS
7. PIAS1 S510G variant acts as a genetic modifier of spinocerebellar ataxia type 3 by selectively impairing mutant ataxin-3 proteostasis
8. Patisiran, an RNAi therapeutic for hereditary transthyretin-mediated amyloidosis: Sub-analysis in Taiwanese patients from the APOLLO study
9. Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing
10. Baseline P2Y12 reactivity, kidney function, and CYP2C19 genotype determine clopidogrel responsiveness in acute stroke
11. Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia
12. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
13. Clinical and genetic characterization of NEFL-related neuropathy in Taiwan
14. Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia
15. Treatment response, risk of relapse and clinical characteristics of Taiwanese patients with neuromyelitis optica spectrum disorder
16. Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia
17. NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy
18. Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia
19. Neuronal Intranuclear Inclusion Disease in New Zealand: A Novel Finding and Potential Polynesian Founder Effect (P4-9.018)
20. Neuronal intranuclear inclusion disease in New Zealand: A novel discovery
21. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype
22. Reduced-penetrance Huntington’s disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis
23. Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia
24. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study
25. Nerve conduction features may serve as a diagnostic clue for neuronal intranuclear inclusion disease.
26. Sulfated disaccharide protects membrane and DNA damages from arginine-rich dipeptide repeats in ALS
27. High Daily Diastolic Blood Pressure Predicts Incident Stroke, Lacune, and Cerebral Microbleeds in CADASIL
28. Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan
29. Comparable progression of spinocerebellar ataxias between Caucasians and Chinese
30. Genetic and Functional Analysis of Glycosyltransferase 8 Domain–Containing Protein 1 in Taiwanese Patients With Amyotrophic Lateral Sclerosis
31. Impaired cerebral interstitial fluid dynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy
32. Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
33. Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine‐Altering Variants
34. Renal function is associated with 1-month and 1-year mortality in patients with ischemic stroke
35. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5
36. Reply to: Mitochondrial disorders are not spinocerebellar ataxias but may resemble them in some aspects
37. Disruption of the PAR3/INSC/LGN complex causes microtubule instability and peripheral neuropathy
38. Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia
39. Cholesterol Levels Are Associated with 30-day Mortality from Ischemic Stroke in Dialysis Patients
40. Impaired cerebral interstitial fluid dynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.
41. Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
42. Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
43. NOTCH3 cysteine-altering variant is an important risk factor for stroke in the Taiwanese population
44. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
45. Patients with NOTCH2NLC GGC Repeat Expansion Presenting with Vascular Leukoencephalopathy (S36.003)
46. Characterization of Heterozygous HTRA1 Mutations in Taiwanese Patients With Cerebral Small Vessel Disease
47. Plasma amyloid assay as a pre-screening tool for amyloid positron emission tomography imaging in early stage Alzheimer’s disease
48. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
49. Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
50. Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing
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