Yo-Tsen Liu

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Aliases
Yo.tsen Liu, Yo‐tsen Liu
Publication record
59 papers · 1,687 citations · H-index 21

PAPERS

Recent Advance in Disease Modifying Therapies for Spinal Muscular Atrophy.
20240 citationsauthor #3
Clinical impact of pharmacogenetic risk variants in a large chinese cohort
20245 citationsauthor #27
The Structural and Dynamic Insights into the Ala97Ser Amyloidogenic Mutation in Transthyretin.
20240 citationsauthor #7
Magnetic resonance radiomics-derived sphericity correlates with seizure in brain arteriovenous malformations
20234 citationsauthor #5
Plasma Matrix Metalloproeteinase-9 Is Associated with Seizure and Angioarchitecture Changes in Brain Arteriovenous Malformations
20223 citationsauthor #1
Precise Motor Function Monitor for Parkinson Disease using Low Power and Wearable IMU Body Area Network
20221 citationsauthor #3
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing
20228 citationsauthor #13
Clinical characteristics and long‐term outcome of cerebral cavernous malformations‐related epilepsy
202217 citationsauthor #17
Novel lissencephaly‐associated DCX variants in the C‐terminal DCX domain affect microtubule binding and dynamics
202213 citationsauthor #3
Monogenic Diseases in Familial Stroke: A Whole Exome Sequencing-based Study (5211)
20210 citationsauthor #2
Acute withdrawal of new-generation antiepileptic drugs in epilepsy monitoring units: Safety and efficacy.
20211 citationsauthor #7
The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia
20218 citationsauthor #3
Hereditary sensory and autonomic neuropathy type 1
20206 citationsauthor #1
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration
201915 citationsauthor #8
Biophysical characterization and modulation of Transthyretin Ala97Ser
201914 citationsauthor #1
Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis
201918 citationsauthor #2
PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation
20193 citationsauthor #11
PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation
20192 citationsauthor #11
PDXK Mutations Cause Polyneuropathy Responsive to Pyridoxal 5 0 -Phosphate Supplementation
20190 citationsauthor #11
Novel SCA19/22‐associated KCND3 mutations disrupt human KV4.3 protein biosynthesis and channel gating
201921 citationsauthor #3
Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan
201938 citationsauthor #3
Gamma Knife radiosurgery for cerebral cavernous malformation
201928 citationsauthor #11
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
201968 citationsauthor #11
15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
20190 citationsauthor #11
PRRT2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization
201926 citationsauthor #5
Correction: Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
20180 citationsauthor #2
Aberrant Sensory Gating of the Primary Somatosensory Cortex Contributes to the Motor Circuit Dysfunction in Paroxysmal Kinesigenic Dyskinesia
201813 citationsauthor #1
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
201784 citationsauthor #9
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias
201716 citationsauthor #2
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease
201734 citationsauthor #9
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
20160 citationsauthor #5
Clinical and biophysical characterization of 19 GJB1 mutations
201618 citationsauthor #10
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
201621 citationsauthor #4
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
201657 citationsauthor #1
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene
201631 citationsauthor #5
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases
201518 citationsauthor #1
Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
20150 citationsauthor #7
Paroxysmal kinesigenic dyskinesia in Taiwan: a genetic and clinical study of 57 patients. (P3.035)
20150 citationsauthor #1
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles
201599 citationsauthor #9
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.
201574 citationsauthor #4
Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
201510 citationsauthor #3
Aggregates of Mutant DNMT1 Are Linked to a Spectrum of Neurological Disorders (S34.007)
20150 citationsauthor #16
Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
201528 citationsauthor #7
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease
201528 citationsauthor #2
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
2015110 citationsauthor #16
Extended phenotypic spectrum of KIF5A mutations
2014105 citationsauthor #1
A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function
201444 citationsauthor #8
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
201355 citationsauthor #1
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
201347 citationsauthor #5
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy
201346 citationsauthor #2
Erratum to: The frequency of spinocerebellar ataxia type 23 in a UK population
20130 citationsauthor #3
The frequency of spinocerebellar ataxia type 23 in a UK population
201313 citationsauthor #3
Advances in the genetics of peripheral nerve disorders
20122 citationsauthor #2
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
2012339 citationsauthor #5
Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.
200833 citationsauthor #1
A novel ABCD1 gene mutation in a Chinese-Taiwanese patient with adrenomyeloneuropathy.
20073 citationsauthor #1
Correlation of magnetic resonance images with neuropathology in acute Wernicke's encephalopathy.
200638 citationsauthor #1
Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation
200510 citationsauthor #3
Isolated oculomotor nerve palsy due to head injury.
200415 citationsauthor #1

TIMELINE

2004 15 citations

2005 10 citations

2006 38 citations

2007 3 citations

2008 33 citations

2012 341 citations

2013 161 citations

2014 149 citations

2015 367 citations

2016 127 citations

2017 134 citations

2018 13 citations

2019 233 citations

2020 6 citations

2021 9 citations

2022 42 citations

2023 4 citations

2024 5 citations

Yo-Tsen Liu

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