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Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants

Movement disorders, 2022-03, Vol.37 (3), p.608-613

2022

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PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum

Cell research, 2018-01, Vol.28 (1), p.90-110

2018

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Novel stop‐gain RNF170 variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia

Clinical genetics, 2023-01, Vol.103 (1), p.87-92

2023

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Purification and Structure Characterization of the Crude Polysaccharide from the Fruiting Bodies of Butyriboletus pseudospeciosus and Its Modulation Effects on Gut Microbiota

Molecules (Basel, Switzerland), 2023-03, Vol.28 (6), p.2679

2023

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Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations

CNS neuroscience & therapeutics, 2022-11, Vol.28 (11), p.1779-1789

2022

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Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

Clinical genetics, 2019-11, Vol.96 (5), p.439-448

2019

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Evaluation of hemostatic, anti-inflammatory, wound healing, skin irritation and allergy, and antimicrobial properties of active fraction from the ethanol extract of Chromolaena odorata (L.) R.M. King & H. Rob

Journal of ethnopharmacology, 2024-09, Vol.331, p.118330-118330, Article 118330

2024

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Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype

CNS neuroscience & therapeutics, 2024-04, Vol.30 (4), p.e14529-n/a

2024

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Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy

Brain (London, England : 1878), 2021-09, Vol.144 (8), p.2457-2470

2021

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Genotype-phenotype correlations of amyotrophic lateral sclerosis

Translational neurodegeneration, 2016-02, Vol.5 (1), p.3-3, Article 3

2016

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20 potentially new compounds and 11 new bioactive constituents found in Smilacis Glabrae Rhizoma utilizing HPLC‐DAD‐ESI‐IT‐TOF‐MSn

Phytochemical analysis, 2024-07, Vol.35 (5), p.1186-1196

2024

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CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.450-468

2021

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Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report

CNS neuroscience & therapeutics, 2021-06, Vol.27 (6), p.725-727

2021

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Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot‐Marie‐Tooth disease

Journal of the peripheral nervous system, 2020-06, Vol.25 (2), p.107-111

2020

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SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

Frontiers in genetics, 2021-10, Vol.12, p.746060-746060

2021

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Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population

Journal of neurology, 2021-02, Vol.268 (2), p.506-515

2021

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Taste loss as the sole presenting symptom in Chinese patient with facial onset sensory and motor neuronopathy

CNS neuroscience & therapeutics, 2021-12, Vol.27 (12), p.1610-1613

2021

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Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome

CNS neuroscience & therapeutics, 2021-10, Vol.27 (10), p.1251-1253

2021

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Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders

CNS neuroscience & therapeutics, 2020-01, Vol.26 (1), p.39-46

2020

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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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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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Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Translational neurodegeneration, 2019-06, Vol.8 (1), p.19-13, Article 19

2019

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Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia

Parkinsonism & related disorders, 2019-05, Vol.62, p.134-140

2019

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Study on Virulence Genes, Drug Resistance and Molecular Epidemiology of Klebsiella pneumoniae with High Virulence in Inner Mongolia, China

Infection and drug resistance, 2023-01, Vol.16, p.1133-1144

2023

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A multi-locus linear mixed model methodology for detecting small-effect QTLs for quantitative traits in MAGIC, NAM, and ROAM populations

Computational and structural biotechnology journal, 2023-01, Vol.21, p.2241-2252

2023

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Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants

PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum

Novel stop‐gain RNF170 variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia

Purification and Structure Characterization of the Crude Polysaccharide from the Fruiting Bodies of Butyriboletus pseudospeciosus and Its Modulation Effects on Gut Microbiota

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot‐Marie‐Tooth disease

Evaluation of hemostatic, anti-inflammatory, wound healing, skin irritation and allergy, and antimicrobial properties of active fraction from the ethanol extract of Chromolaena odorata (L.) R.M. King & H. Rob

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy

Genotype-phenotype correlations of amyotrophic lateral sclerosis

20 potentially new compounds and 11 new bioactive constituents found in Smilacis Glabrae Rhizoma utilizing HPLC‐DAD‐ESI‐IT‐TOF‐MSn

CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency

Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report

Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot‐Marie‐Tooth disease

SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population

Taste loss as the sole presenting symptom in Chinese patient with facial onset sensory and motor neuronopathy

Identification of a large homozygous SPG21 deletion in a Chinese patient with Mast syndrome

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders

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

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

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia

Study on Virulence Genes, Drug Resistance and Molecular Epidemiology of Klebsiella pneumoniae with High Virulence in Inner Mongolia, China

A multi-locus linear mixed model methodology for detecting small-effect QTLs for quantitative traits in MAGIC, NAM, and ROAM populations

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