191 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. Plasma Matrix Metalloproeteinase-9 Is Associated with Seizure and Angioarchitecture Changes in Brain Arteriovenous Malformations
4. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia
5. Acute withdrawal of new-generation antiepileptic drugs in epilepsy monitoring units: Safety and efficacy
6. Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration
7. Magnetic resonance radiomics-derived sphericity correlates with seizure in brain arteriovenous malformations
8. Gamma Knife radiosurgery for cerebral cavernous malformation
9. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
10. Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing
11. Precise Motor Function Monitor for Parkinson Disease using Low Power and Wearable IMU Body Area Network
12. Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
13. Clinical characteristics and long‐term outcome of cerebral cavernous malformations‐related epilepsy
14. Novel lissencephaly‐associated DCX variants in the C‐terminal DCX domain affect microtubule binding and dynamics
15. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders
16. Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis
17. The frequency of spinocerebellar ataxia type 23 in a UK population
18. Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
19. Transthyretin Ala97Ser in Chinese–Taiwanese patients with familial amyloid polyneuropathy: Genetic studies and phenotype expression
20. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
21. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
22. Monogenic Diseases in Familial Stroke: A Whole Exome Sequencing-based Study (5211)
23. Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation
24. Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
25. The clinical and imaging features of FLNApositive and negative periventricular nodular heterotopia
26. Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration
27. Biophysical characterization and modulation of Transthyretin Ala97Ser
28. Novel SCA19/22‐associated KCND3 mutations disrupt human K V 4.3 protein biosynthesis and channel gating
29. PRRT 2missense mutations cluster near C‐terminus and frequently lead to protein mislocalization
30. Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan
31. Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis
32. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease
33. Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population
34. Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia
35. Correction: Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
36. Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
37. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
38. Genetic and clinical characteristics ofNEFL-related Charcot-Marie-Tooth disease
39. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
40. Novel SCA19/22‐associated KCND3 mutations disrupt human KV4.3 protein biosynthesis and channel gating.
41. PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
42. PRRT2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization.
43. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2
44. Clinical and biophysical characterization of 19 GJB1 mutations
45. PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
46. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
47. Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
48. Defects of mutant DNMT1 are linked to a spectrum of neurological disorders
49. Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
50. The frequency of spinocerebellar ataxia type 23 in a UK population
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