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Molecular bilayer graphene

Nature communications, 2019-07, Vol.10 (1), p.3057-7, Article 3057

2019

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Synthesis and assembly of extended quintulene

Nature communications, 2020-08, Vol.11 (1), p.3976-3976, Article 3976

2020

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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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Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.282-282, Article 282

2019

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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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Targeting cancer cachexia: Molecular mechanisms and clinical study

MedComm (2020), 2022-12, Vol.3 (4), p.e164-n/a

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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Metabolic profiling of cold adaptation of a deep-sea psychrotolerant Microbacterium sediminis to prolonged low temperature under high hydrostatic pressure

Applied microbiology and biotechnology, 2020, Vol.104 (1), p.277-289

2020

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A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores

CNS neuroscience & therapeutics, 2021-10, Vol.27 (10), p.1198-1205

2021

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Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

Journal of molecular medicine (Berlin, Germany), 2018-07, Vol.96 (7), p.701-712

2018

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A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

BMC neurology, 2021-10, Vol.21 (1), p.1-402, Article 402

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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Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Translational neurodegeneration, 2021-10, Vol.10 (1), p.40-40, Article 40

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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Construction of a novel electrochemical biosensor based on a mesoporous silica/oriented graphene oxide planar electrode for detecting hydrogen peroxide

Analytical methods, 2020-06, Vol.12 (21), p.2661-2667

2020

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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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Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

Npj genomic medicine, 2021-01, Vol.6 (1), p.1-1, Article 1

2021

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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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MOF-derived Cu embedded into N-doped mesoporous carbon as a robust support of PdAu nanocatalysts for ethanol electrooxidation

Rare metals, 2024-03, Vol.43 (3), p.1083-1094

2024

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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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Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next‐generation sequencing

CNS neuroscience & therapeutics, 2019-01, Vol.25 (1), p.21-29

2019

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Underlying action mechanism of a novel antioxidant peptide derived from Allium tuberosum Rottler protein hydrolysates and its protective effects on hydrogen peroxide induced cell injury

Journal of functional foods, 2018-01, Vol.40, p.606-613

2018

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Metabolomic Investigations on Nesterenkonia flava Revealed Significant Differences between Marine and Terrestrial Actinomycetes

Marine drugs, 2018-09, Vol.16 (10), p.356

2018

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A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

Chinese medical journal, 2017-08, Vol.130 (15), p.1779-1784

2017

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Molecular bilayer graphene

Synthesis and assembly of extended quintulene

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

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

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

Targeting cancer cachexia: Molecular mechanisms and clinical study

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

Metabolic profiling of cold adaptation of a deep-sea psychrotolerant Microbacterium sediminis to prolonged low temperature under high hydrostatic pressure

A novel frameshift ACTN2 variant causes a rare adult‐onset distal myopathy with multi‐minicores

Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients

A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

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

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

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

Construction of a novel electrochemical biosensor based on a mesoporous silica/oriented graphene oxide planar electrode for detecting hydrogen peroxide

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

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

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

MOF-derived Cu embedded into N-doped mesoporous carbon as a robust support of PdAu nanocatalysts for ethanol electrooxidation

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

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next‐generation sequencing

Underlying action mechanism of a novel antioxidant peptide derived from Allium tuberosum Rottler protein hydrolysates and its protective effects on hydrogen peroxide induced cell injury

Metabolomic Investigations on Nesterenkonia flava Revealed Significant Differences between Marine and Terrestrial Actinomycetes

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

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