Hai-Lin Dong

发表

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

Zhi-ying Wu, Sheng Chen, Hai-Lin Dong, 2019, CNS neuroscience & therapeutics.

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

Zhi-ying Wu, Qiao Wei, Hong-Fu Li, 2019, Translational Neurodegeneration.

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

Zhi-ying Wu, B. Xiao, Hai-Lin Dong, 2017, Chinese medical journal.

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

Hong-Fu Li, Hai-Lin Dong, Yi-Jun Chen, 2019, CNS neuroscience & therapeutics.

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

A. Gitler, W. Ni, Qiao Wei, 2018, Journal of Molecular Medicine.

Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot–Marie–Tooth disease

Ge Bai, Hai-Lin Dong, Gonglu Liu, 2020, Annals of clinical and translational neurology.

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

Hong-Fu Li, Hai-Lin Dong, Zhi-Ying Wu, 2021, CNS neuroscience & therapeutics.

Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration.

W. Ni, Hong-Fu Li, Hai-Lin Dong, 2018, Parkinsonism & related disorders.

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

Juan Zhang, W. Ni, Qiao Wei, 2022, Frontiers in Genetics.

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2019, Molecular genetics & genomic medicine.

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

A. Gitler, W. Ni, Qiao Wei, 2018, Journal of Molecular Medicine.

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

Hai-Lin Dong, Lei Chen, Gonglu Liu, 2021, CNS neuroscience & therapeutics.

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

Ying Shen, Yi Dong, Hai-Lin Dong, 2021, Translational neurodegeneration.

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

Qiao Wei, Huan Ma, Ge Bai, 2019, Clinical genetics.

Clinical features of Chinese patients with Gerstmann–Sträussler–Scheinker identified by targeted next-generation sequencing

W. Ni, Hong-Fu Li, Zhi-Jun Liu, 2017, Neurobiology of Aging.

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

Hai-Lin Dong, Hao Yu, Gonglu Liu, 2021, NPJ genomic medicine.

TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.

W. Ni, Yi Dong, Hai-Lin Dong, 2021, Gene.

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

Qiao Wei, Huan Ma, Ge Bai, 2020, Journal of the peripheral nervous system : JPNS.

Case Report: Recurrent Malignant Struma Ovarii With Hyperthyroidism and Metastases, A Rare Case Report and Review of the Literature

Haoran Sun, Z. Meng, Hai-Lin Dong, 2022, Pathology & Oncology Research.

Clinical and genetic characteristics of Chinese patients with reducing body myopathy

Hai-Lin Dong, Lei Chen, Hao Yu, 2021, Neuromuscular Disorders.

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

W. Ni, Hai-Lin Dong, Qing-Qing Tao, 2019, Orphanet Journal of Rare Diseases.

Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.

Zhi-Rong Liu, Hai-Lin Dong, Yin Ma, 2019, Mitochondrion.

Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.

Ge Bai, Ying Shen, Hai-Lin Dong, 2020, Brain : a journal of neurology.

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

Qiao Wei, Ge Bai, Hong-Fu Li, 2021, Brain : a journal of neurology.

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

Qiao Wei, Hong-Fu Li, Zhi-Jun Liu, 2019, Translational Neurodegeneration.

A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family.

Hai-Lin Dong, Cong-Xin Chen, Zhi-Ying Wu, 2019, Brain : a journal of neurology.

A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2022, Molecular genetics & genomic medicine.

A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family.

Hai-Lin Dong, Lei Chen, Zhi-Ying Wu, 2020, Brain : a journal of neurology.

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

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2019, Clinical genetics.

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

Qiao Wei, Hong-Fu Li, Hai-Lin Dong, 2023, CNS neuroscience & therapeutics.