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Reply to: "Low Frequency of p.S510G in PIAS1 Challenges Its Relevance for Modifying Repeat Expansion Disorders".
- Published in:
- 2022
- By:
- Publication type:
- Letter
A missense mutation in human INSC causes peripheral neuropathy.
- Published in:
- EMBO Molecular Medicine, 2024, v. 16, n. 5, p. 1091, doi. 10.1038/s44321-024-00062-w
- By:
- Publication type:
- Article
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Reply: A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.
- Published in:
- Cerebellum, 2020, v. 19, n. 4, p. 544, doi. 10.1007/s12311-020-01136-4
- By:
- Publication type:
- Article
Visual cortex excitability and plasticity associated with remission from chronic to episodic migraine.
- Published in:
- Cephalalgia, 2012, v. 32, n. 7, p. 537, doi. 10.1177/0333102412443337
- By:
- Publication type:
- Article
Visual cortex excitability and plasticity associated with remission from chronic to episodic migraine.
- Published in:
- Cephalalgia, 2012, v. 32, n. 7, p. 537, doi. 10.1177/0333102412443337
- By:
- Publication type:
- Article
Plasma amyloid assay as a pre-screening tool for amyloid positron emission tomography imaging in early stage Alzheimer's disease.
- Published in:
- Alzheimer's Research & Therapy, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13195-019-0566-0
- By:
- Publication type:
- Article
Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0136501
- By:
- Publication type:
- Article
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0133423
- By:
- Publication type:
- Article
Connectivity Features for Identifying Cognitive Impairment in Presymptomatic Carotid Stenosis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085441
- By:
- Publication type:
- Article
PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0038543
- By:
- Publication type:
- Article
The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029393
- By:
- Publication type:
- Article
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 10, p. 1661, doi. 10.1007/s00415-010-5590-8
- By:
- Publication type:
- Article
Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 2, p. 191, doi. 10.1007/s00415-009-5290-4
- By:
- Publication type:
- Article
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 2, p. 249, doi. 10.1007/s00415-009-0091-3
- By:
- Publication type:
- Article
Spastic paraparesis as a manifestation of metabolic vitamin B12 deficiency.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 9, p. 1125, doi. 10.1007/s00415-005-0806-z
- By:
- Publication type:
- Article
Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 2, p. 151, doi. 10.1007/s00415-005-0621-6
- By:
- Publication type:
- Article
Cutoff Scores of the Cognitive Abilities Screening Instrument, Chinese Version in Screening of Dementia.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2002, v. 14, n. 4, p. 176, doi. 10.1159/000066024
- By:
- Publication type:
- Article
A production economic analysis of different stocking density and fry size combinations of milkfish, Chanos chanos, farming in Taiwan.
- Published in:
- Journal of the World Aquaculture Society, 2022, v. 53, n. 2, p. 424, doi. 10.1111/jwas.12842
- By:
- Publication type:
- Article
Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1909, doi. 10.1002/acn3.52113
- By:
- Publication type:
- Article
Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1603, doi. 10.1002/acn3.51850
- By:
- Publication type:
- Article
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 353, doi. 10.1002/acn3.51724
- By:
- Publication type:
- Article
Reply to: Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 1, p. 101, doi. 10.1002/acn3.51489
- By:
- Publication type:
- Article
Clinical and genetic characterization of adult‐onset leukoencephalopathy caused by CSF1R mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2121, doi. 10.1002/acn3.51467
- By:
- Publication type:
- Article
Hand‐onset weakness is a common feature of ALS patients with a NEK1 loss‐of‐function variant.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 6, p. 965, doi. 10.1002/acn3.51064
- By:
- Publication type:
- Article
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 486, doi. 10.1002/acn3.51019
- By:
- Publication type:
- Article
Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1090, doi. 10.1002/acn3.50797
- By:
- Publication type:
- Article
Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 913, doi. 10.1002/acn3.778
- By:
- Publication type:
- Article
Clinical and biophysical characterization of 19 GJB1 mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 854, doi. 10.1002/acn3.347
- By:
- Publication type:
- Article
Mutation screening and association analysis of NOTCH3 p.R544C in patients with migraine with or without aura.
- Published in:
- Cephalalgia, 2022, v. 42, n. 9, p. 888, doi. 10.1177/03331024221080891
- By:
- Publication type:
- Article
Mutations in KCND3 cause spinocerebellar ataxia type 22.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 6, p. 859, doi. 10.1002/ana.23701
- By:
- Publication type:
- Article
Optimizing Hard Clam Production in Taiwan by Accounting for Nonlinear Effects of Stocking Density and Feed Costs on Farm Output of Clams.
- Published in:
- Fishes (MDPI AG), 2022, v. 7, n. 4, p. 160, doi. 10.3390/fishes7040160
- By:
- Publication type:
- Article
Nerve conduction features may serve as a diagnostic clue for neuronal intranuclear inclusion disease.
- Published in:
- Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae221
- By:
- Publication type:
- Article
Impaired cerebral interstitial fluid dynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy.
- Published in:
- Brain Communications, 2024, v. 6, n. 1, p. 1, doi. 10.1093/braincomms/fcad349
- By:
- Publication type:
- Article
Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 22, p. 1, doi. 10.1161/JAHA.123.032689
- By:
- Publication type:
- Article
Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Longitudinal Cerebral Perfusion Decrease in Mild Alzheimer’s Disease Revealed by SPECT with Statistical Parametric Mapping Method.
- Published in:
- European Neurology, 2004, v. 52, n. 1, p. 42, doi. 10.1159/000079417
- By:
- Publication type:
- Article
Statistical Parametric Mapping of Brain SPECT Perfusion Abnormalities in Patients with Alzheimer’s Disease.
- Published in:
- European Neurology, 2003, v. 49, n. 3, p. 142, doi. 10.1159/000069086
- By:
- Publication type:
- Article
Wernicke’s Encephalopathy in a Patient with Multiple Symmetrical Lipomatosis and the A8344G Mutation of Mitochondrial DNA.
- Published in:
- European Neurology, 2002, v. 47, n. 2, p. 126, doi. 10.1159/000047967
- By:
- Publication type:
- Article
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147677
- By:
- Publication type:
- Article
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.
- Published in:
- Cellular & Molecular Neurobiology, 2023, v. 43, n. 6, p. 2769, doi. 10.1007/s10571-022-01315-3
- By:
- Publication type:
- Article
Reply to: "CAG Repeat Expansion in THAP11 is Not Detected in a Cohort with Spinocerebellar Ataxia from Hokkaido, the Northernmost Island of Japan".
- Published in:
- Movement Disorders, 2024, v. 39, n. 9, p. 1658, doi. 10.1002/mds.29978
- By:
- Publication type:
- Article
THAP11 CAG Repeat Expansion Is Rare or Absent in the Taiwanese Cohort with Cerebellar Ataxia.
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 924, doi. 10.1002/mds.29800
- By:
- Publication type:
- Article
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
- Published in:
- Movement Disorders, 2024, v. 39, n. 1, p. 152, doi. 10.1002/mds.29664
- By:
- Publication type:
- Article
Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
- Published in:
- Movement Disorders, 2023, v. 38, n. 12, p. 2217, doi. 10.1002/mds.29604
- By:
- Publication type:
- Article
A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 767, doi. 10.1002/mds.28896
- By:
- Publication type:
- Article
Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory.
- Published in:
- Diagnostics (2075-4418), 2019, v. 9, n. 2, p. 44, doi. 10.3390/diagnostics9020044
- By:
- Publication type:
- Article