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Mutations in KCND3 cause spinocerebellar ataxia type 22

Annals of neurology, 2012-12, Vol.72 (6), p.859-869

2012

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Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

PloS one, 2015-08, Vol.10 (8), p.e0136501-e0136501

2015

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Reply to: “Low Frequency of p.S510G in PIAS1 Challenges Its Relevance for Modifying Repeat Expansion Disorders”

Movement disorders, 2022-10, Vol.37 (10), p.2169-2169

2022

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Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5

Movement disorders, 2023-12, Vol.38 (12), p.2217-2229

2023

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A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis

Movement disorders, 2022-04, Vol.37 (4), p.767-777

2022

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Baseline P2Y12 reactivity, kidney function, and CYP2C19 genotype determine clopidogrel responsiveness in acute stroke

Scientific reports, 2023-05, Vol.13 (1), p.8085-8085, Article 8085

2023

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Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization

Movement disorders, 2024-01, Vol.39 (1), p.152-163

2024

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Reply to: Mitochondrial disorders are not spinocerebellar ataxias but may resemble them in some aspects

Journal of the Formosan Medical Association, 2023-09, Vol.122 (9), p.967-967

2023

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The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

PloS one, 2011-12, Vol.6 (12), p.e29393-e29393

2011

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A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1252-1266

2017

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

American journal of human genetics, 2018-03, Vol.102 (3), p.505-514

2018

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Urotensin II inhibits doxorubicin-induced human umbilical vein endothelial cell death by modulating ATF expression and via the ERK and Akt pathway

PloS one, 2014-09, Vol.9 (9), p.e106812

2014

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Connectivity features for identifying cognitive impairment in presymptomatic carotid stenosis

PloS one, 2014-01, Vol.9 (1), p.e85441-e85441

2014

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Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants

Journal of the American Heart Association, 2023-11, Vol.12 (22), p.e032689

2023

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Tanshinone IIA Inhibits High Glucose-Induced Collagen Synthesis via Nuclear Factor Erythroid 2-Related Factor 2 in Cardiac Fibroblasts

Cellular physiology and biochemistry, 2018-01, Vol.51 (5), p.2250-2261

2018

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Highly exfoliated functionalized MoS2 with sodium alginate-polydopamine conjugates for electrochemical sensing of cardio-selective β-blocker by voltammetric methods

Mikrochimica acta (1966), 2021-03, Vol.188 (3), p.103-103, Article 103

2021

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Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Journal of the American Heart Association, 2020-07, Vol.9 (13), p.e016233-e016233

2020

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Patisiran, an RNAi therapeutic for hereditary transthyretin-mediated amyloidosis: Sub-analysis in Taiwanese patients from the APOLLO study

Journal of the Formosan Medical Association, 2024-09, Vol.123 (9), p.975-984

2024

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Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia

Annals of clinical and translational neurology, 2023-09, Vol.10 (9), p.1603-1612

2023

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A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

Human mutation, 2012-01, Vol.33 (1), p.244-253

2012

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Reply to: Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?

Annals of clinical and translational neurology, 2022-01, Vol.9 (1), p.101-102

2022

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Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

PloS one, 2015-08, Vol.10 (8), p.e0133423-e0133423

2015

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Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

PloS one, 2017-05, Vol.12 (5), p.e0177296-e0177296

2017

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Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan

Cerebellum (London, England), 2020-08, Vol.19 (4), p.544-549

2020

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Plasma amyloid assay as a pre-screening tool for amyloid positron emission tomography imaging in early stage Alzheimer's disease

Alzheimer's research & therapy, 2019-12, Vol.11 (1), p.111-111, Article 111

2019

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Mutations in KCND3 cause spinocerebellar ataxia type 22

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

Reply to: “Low Frequency of p.S510G in PIAS1 Challenges Its Relevance for Modifying Repeat Expansion Disorders”

Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5

A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis

Baseline P2Y12 reactivity, kidney function, and CYP2C19 genotype determine clopidogrel responsiveness in acute stroke

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization

Reply to: Mitochondrial disorders are not spinocerebellar ataxias but may resemble them in some aspects

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Urotensin II inhibits doxorubicin-induced human umbilical vein endothelial cell death by modulating ATF expression and via the ERK and Akt pathway

Connectivity features for identifying cognitive impairment in presymptomatic carotid stenosis

Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants

Tanshinone IIA Inhibits High Glucose-Induced Collagen Synthesis via Nuclear Factor Erythroid 2-Related Factor 2 in Cardiac Fibroblasts

Highly exfoliated functionalized MoS2 with sodium alginate-polydopamine conjugates for electrochemical sensing of cardio-selective β-blocker by voltammetric methods

Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Patisiran, an RNAi therapeutic for hereditary transthyretin-mediated amyloidosis: Sub-analysis in Taiwanese patients from the APOLLO study

Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia

A Recurrent loss-of-function alanyl-tRNA synthetase (AARS ) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

Reply to: Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?

Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan

Plasma amyloid assay as a pre-screening tool for amyloid positron emission tomography imaging in early stage Alzheimer's disease

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