Hai-lin Dong

88 Jiefang Road
Hangzhou, China

Last Updated: 09/26/2026

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Found 32 publications

Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1.

Genotype-phenotype relationship in a cohort of 131 Chinese patients with myotonic dystrophy type 1.

Journal: BMC neurology

Published: August 28, 2025

Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.

Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: August 27, 2024

Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum.

Axonal Charcot-Marie-Tooth disease due to COQ7 mutation: expanding the genetic and clinical spectrum.

Journal: Brain : a journal of neurology

Published: June 12, 2023

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

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

Journal: CNS neuroscience & therapeutics

Published: June 03, 2023

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

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

Journal: Frontiers in genetics

Published: March 31, 2022

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

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

Journal: Molecular genetics & genomic medicine

Published: October 22, 2021

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

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

Journal: CNS neuroscience & therapeutics

Published: July 13, 2021

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

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

Journal: Translational neurodegeneration

Published: May 31, 2021

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

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

Journal: BMC neurology

Published: May 22, 2021

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

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

Journal: CNS neuroscience & therapeutics

Published: March 28, 2021

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

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

Journal: Brain : a journal of neurology

Published: February 12, 2021

A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia.

A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraplegia.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: February 05, 2021

Showing 1-12 of 32

Last Updated: 09/26/2026