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The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts

Movement disorders, 2023-04, Vol.38 (4), p.537-544

2023

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Proline‐rich transmembrane protein 2–negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients

Movement disorders, 2018-03, Vol.33 (3), p.459-467

2018

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Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders

Clinical neurology and neurosurgery, 2019-02, Vol.177, p.92-96

2019

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Altered structural and functional connectivity in CSF1R-related leukoencephalopathy

Brain imaging and behavior, 2021-06, Vol.15 (3), p.1655-1666

2021

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Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18

Chinese medical journal, 2016-11, Vol.129 (22), p.2759-2761

2016

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Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

Chinese medical journal, 2018-02, Vol.131 (4), p.477-479

2018

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Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T

Annals of clinical and translational neurology, 2019-06, Vol.6 (6), p.1062-1071

2019

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Clinicopathologic characterization and abnormal autophagy of CSF1R -related leukoencephalopathy

Translational neurodegeneration, 2019-12, Vol.8 (1), p.32-32, Article 32

2019

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New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity

Annals of clinical and translational neurology, 2020-02, Vol.7 (2), p.200-209

2020

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Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients

Chinese medical journal, 2017-09, Vol.130 (17), p.2088-2094

2017

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Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses

Neuroscience letters, 2020-01, Vol.714, p.134543-134543, Article 134543

2020

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A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review

European journal of medical genetics, 2022-11, Vol.65 (11), p.104608-104608, Article 104608

2022

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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

Movement disorders, 2020-08, Vol.35 (8), p.1428-1437

2020

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Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

Human molecular genetics, 2018-02, Vol.27 (4), p.625-637

2018

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Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review

Neuromuscular disorders : NMD, 2019-04, Vol.29 (4), p.282-289

2019

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The study of exercise tests in paroxysmal kinesigenic dyskinesia

Clinical neurophysiology, 2018-11, Vol.129 (11), p.2435-2441

2018

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Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review

Seizure (London, England), 2018-04, Vol.57, p.80-86

2018

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Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia

Zhongguo xian dai shen jing ji bing za zhi, 2017-07, Vol.17 (7), p.507-512

2017

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Social and psychological survey on paroxysmal kinesigenic dyskinesia patients in China

Zhongguo xian dai shen jing ji bing za zhi, 2017-08, Vol.17 (8), p.590-596

2017

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Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Annals of translational medicine, 2020-01, Vol.8 (1), p.8-8

2020

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Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

Human molecular genetics, 2018-02, Vol.27 (4), p.757-758

2018

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ovel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

中华医学杂志：英文版, 2018, Vol.131 (4), p.477-479

2018

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发作性运动诱发性运动障碍临床表型分析

中国现代神经疾病杂志, 2017, Vol.17 (7), p.507-512

田沃土黄啸君沈隽逸徐洋奇陈生弟曹立

2017

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中国发作性运动诱发性运动障碍患者社会心理学调查研究

中国现代神经疾病杂志, 2017, Vol.17 (8), p.590-596

田沃土黄啸君梁桂玲朱晨曦沈颖方钰陈睦涵沈隽逸陈生弟曹立

2017

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The Pathogenesis of Paroxysmal Kinesigenic Dyskinesia: Current Concepts

Proline‐rich transmembrane protein 2–negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients

Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders

Altered structural and functional connectivity in CSF1R-related leukoencephalopathy

Novel Mutations in Endoplasmic Reticulum Lipid Raft-associated Protein 2 Gene Cause Pure Hereditary Spastic Paraplegia Type 18

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T

Clinicopathologic characterization and abnormal autophagy of CSF1R -related leukoencephalopathy

New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity

Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients

Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses

A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review

TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large‐Sample Study

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review

The study of exercise tests in paroxysmal kinesigenic dyskinesia

Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review

Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia

Social and psychological survey on paroxysmal kinesigenic dyskinesia patients in China

Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

ovel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis

发作性运动诱发性运动障碍临床表型分析

中国发作性运动诱发性运动障碍患者社会心理学调查研究

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