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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

American journal of human genetics, 2019-07, Vol.105 (1), p.166-176

2019

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Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

Annals of neurology, 2023-02, Vol.93 (2), p.244-256

2023

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Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China

Chinese medical journal, 2020-11, Vol.133 (21), p.2616-2618

2020

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Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease

Brain (London, England : 1878), 2019-08, Vol.142 (8), p.2215-2229

2019

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Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Human genetics, 2005-02, Vol.116 (3), p.222-224

2005

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Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

Chinese medical journal, 2018-01, Vol.131 (2), p.151-155

2018

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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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Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease

Zhonghua yi xue yi chuan xue za zhi, 2012-10, Vol.29 (5), p.553

2012

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Efficacy of afatinib, an irreversible ErbB family blocker, in the treatment of intracerebral metastases of non-small cell lung cancer in mice

Acta pharmacologica Sinica, 2017-02, Vol.38 (2), p.233-240

2017

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The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L

Zhonghua yi xue yi chuan xue za zhi, 2011-10, Vol.28 (5), p.528

2011

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Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families

Zhong hua yi xue za zhi, 2012-06, Vol.92 (21), p.1463-1467

2012

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Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain

Zhonghua yi xue yi chuan xue za zhi, 2011-10, Vol.28 (5), p.496

2011

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Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease

Zhong hua yi xue za zhi, 2009-12, Vol.89 (47), p.3324-3327

2009

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Soil Organic Carbon Stocks and Its Driving Factors Under Different Land-Use Patterns in Semiarid Grasslands of the Loess Plateau, China

Nature environment and pollution technology, 2021-09, Vol.20 (3), p.997-1006

2021

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The progress in diagnosis and treatment of transthyretin amyloid polyneuropathy

Zhongguo xian dai shen jing ji bing za zhi, 2021-06, Vol.21 (6), p.430-438

2021

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Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L

Zhonghua yi xue yi chuan xue za zhi, 2006-12, Vol.23 (6), p.601

2006

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Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease

Zhonghua yi xue yi chuan xue za zhi, 2005-08, Vol.22 (4), p.361

2005

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Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease

Zhonghua yi xue yi chuan xue za zhi, 2005-10, Vol.22 (5), p.510

2005

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Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L

Zhonghua yi xue yi chuan xue za zhi, 2006-04, Vol.23 (2), p.189

2006

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Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease

Beijing da xue xue bao. Journal of Peking University. Yi xue ban, 2005-02, Vol.37 (1), p.68

2005

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Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR

Zhonghua yi xue yi chuan xue za zhi, 2005-10, Vol.22 (5), p.537

2005

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The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease

Zhong hua yi xue za zhi, 2005-07, Vol.85 (26), p.1809-1812

2005

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Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease

Zhong hua yi xue za zhi, 2005-09, Vol.85 (34), p.2382-2385

2005

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Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family

Zhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban, 2005-11, Vol.34 (6), p.529-533

2005

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Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

Sensitivity of Sniffer Dogs for a Diagnosis of Parkinson's Disease: A Diagnostic Accuracy Study

Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China

Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease

Efficacy of afatinib, an irreversible ErbB family blocker, in the treatment of intracerebral metastases of non-small cell lung cancer in mice

The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L

Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families

Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain

Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease

Soil Organic Carbon Stocks and Its Driving Factors Under Different Land-Use Patterns in Semiarid Grasslands of the Loess Plateau, China

The progress in diagnosis and treatment of transthyretin amyloid polyneuropathy

Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L

Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease

Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease

Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease

Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR

The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease

Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease

Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family

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