42 results on '"Liu, Yo-Tsen"'
Search Results
2. Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing
3. Precise Motor Function Monitor for Parkinson Disease using Low Power and Wearable IMU Body Area Network
4. Plasma Matrix Metalloproeteinase-9 Is Associated with Seizure and Angioarchitecture Changes in Brain Arteriovenous Malformations
5. Clinical characteristics and long‐term outcome of cerebral cavernous malformations‐related epilepsy
6. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia
7. Novel lissencephaly‐associated DCX variants in the C‐terminal DCX domain affect microtubule binding and dynamics
8. Monogenic Diseases in Familial Stroke: A Whole Exome Sequencing-based Study (5211)
9. Acute withdrawal of new-generation antiepileptic drugs in epilepsy monitoring units: Safety and efficacy
10. Gamma Knife radiosurgery for cerebral cavernous malformation
11. Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration
12. Biophysical characterization and modulation of Transthyretin Ala97Ser
13. Novel SCA19/22‐associated KCND3 mutations disrupt human K V 4.3 protein biosynthesis and channel gating
14. PRRT 2missense mutations cluster near C‐terminus and frequently lead to protein mislocalization
15. Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan
16. Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis
17. Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia
18. Correction: Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
19. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
20. Genetic and clinical characteristics ofNEFL-related Charcot-Marie-Tooth disease
21. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
22. Clinical and biophysical characterization of 19 GJB1 mutations
23. PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
24. Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis
25. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
26. Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
27. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
28. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease
29. What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases
30. Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
31. Paroxysmal kinesigenic dyskinesia in Taiwan: a genetic and clinical study of 57 patients. (P3.035)
32. Aggregates of Mutant DNMT1 Are Linked to a Spectrum of Neurological Disorders (S34.007)
33. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders
34. Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
35. A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function
36. Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population
37. The frequency of spinocerebellar ataxia type 23 in a UK population
38. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
39. Transthyretin Ala97Ser in Chinese–Taiwanese patients with familial amyloid polyneuropathy: Genetic studies and phenotype expression
40. A Novel ABCD1 Gene Mutation in a Chinese-Taiwanese Patient with Adrenomyeloneuropathy
41. Correlation of magnetic resonance images with neuropathology in acute Wernicke's encephalopathy
42. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation
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