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Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study

CNS neuroscience & therapeutics, 2017-09, Vol.23 (9), p.707-716

2017

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TMEM151A variants cause paroxysmal kinesigenic dyskinesia

Cell discovery, 2021-09, Vol.7 (1), p.1-4, Article 83

2021

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Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system

Neurobiology of aging, 2014-12, Vol.35 (12), p.2881.e11-2881.e15

2014

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Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

Frontiers in genetics, 2022-08, Vol.13, p.909131-909131

2022

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Diffuse intracranial calcification, deep medullary vein engorgement, and symmetric white matter involvement in a patient with systemic lupus erythematosus

CNS neuroscience & therapeutics, 2020-02, Vol.26 (2), p.278-280

2020

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Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

BMC neurology, 2016-09, Vol.16 (1), p.179-179, Article 179

2016

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Modeling Neurological Disease by Rapid Conversion of Human Urine Cells into Functional Neurons

Stem Cells International, 2016-01, Vol.2016 (1), p.2452985-2452985

2016

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Hypomethylation of proximal CpG motif of interleukin-10 promoter regulates its expression in human rheumatoid arthritis

Acta pharmacologica Sinica, 2011-11, Vol.32 (11), p.1373-1380

2011

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Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1065-n/a

2020

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Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy

CNS neuroscience & therapeutics, 2015-08, Vol.21 (8), p.626-630

2015

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Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients

Chinese medical journal, 2016-05, Vol.129 (9), p.1017-1021

2016

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A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1927-n/a

2022

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Variant of EOMES Associated with Increasing Risk in Chinese Patients with Relapsing-remitting Multiple Sclerosis

Chinese medical journal, 2018-03, Vol.131 (6), p.643-647

2018

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Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration

Brain sciences, 2022-04, Vol.12 (5), p.517

2022

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Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers-Danlos Syndrome Type IV

Journal of pain research, 2019-01, Vol.12, p.3215-3220

2019

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Urine-derived induced pluripotent stem cells as a modeling tool for paroxysmal kinesigenic dyskinesia

Biology open, 2015-11, Vol.4 (12), p.1744-1752

2015

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PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia

CNS neuroscience & therapeutics, 2013-01, Vol.19 (1), p.61-65

2013

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Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms

Neuroscience bulletin, 2024-07, Vol.40 (7), p.952-962

2024

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Understanding the role of silane pretreatments in an organic coating system. Part 2: a study of molecular dynamics simulation

JCT research, 2019-07, Vol.16 (4), p.971-981

2019

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Detection of 191 Taxifolin Metabolites and Their Distribution in Rats Using HPLC-ESI-IT-TOF-MS(n)

Molecules (Basel, Switzerland), 2016-09, Vol.21 (9)

2016

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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Nature genetics, 2011-12, Vol.43 (12), p.1252-1255

2011

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Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity

Neurobiology of aging, 2023-03, Vol.123, p.182-190

2023

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Author Correction: TMEM151A variants cause paroxysmal kinesigenic dyskinesia

Cell discovery, 2021-10, Vol.7 (1), p.102-102, Article 102

2021

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Detection of 191 Taxifolin Metabolites and Their Distribution in Rats Using HPLC-ESI-IT-TOF-MSn

Molecules (Basel, Switzerland), 2016-09, Vol.21 (9), p.1209

2016

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A TE01-HE11 Mode Conversion System

Journal of infrared, millimeter and terahertz waves, 2015-11, Vol.36 (11), p.1101-1111

2015

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