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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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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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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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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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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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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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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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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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Genotype-phenotype correlations of amyotrophic lateral sclerosis

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

2016

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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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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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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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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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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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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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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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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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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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TMEM151A variants cause paroxysmal kinesigenic dyskinesia

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

2021

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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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Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia

Clinical genetics, 2019-05, Vol.95 (5), p.637-639

2019

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

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

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

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

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

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

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

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

Genotype-phenotype correlations of amyotrophic lateral sclerosis

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

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

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

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

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

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

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

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

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

TMEM151A variants cause paroxysmal kinesigenic dyskinesia

Associations between neuroanatomical abnormality and motor symptoms in paroxysmal kinesigenic dyskinesia

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia

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

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