En-lin Dong

Fuzhou, China

Last Updated: 09/26/2026

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Found 16 publications

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.

Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.

Journal: Frontiers in neurology
Published: November 09, 2020

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

Journal: Annals of clinical and translational neurology
Published: June 05, 2020

Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Journal: Journal of molecular neuroscience : MN
Published: January 14, 2020

Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.

Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.

Journal: Molecular diagnosis & therapy
Published: October 21, 2019

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia.

Journal: Parkinsonism & related disorders
Published: March 11, 2019

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.

Journal: Brain : a journal of neurology
Published: November 01, 2018

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).

Journal: Stem cell research
Published: September 12, 2018

Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Journal: Journal of molecular neuroscience : MN
Published: September 05, 2018

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Journal: Neuron
Published: February 20, 2018

c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.

c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.

Journal: Journal of molecular neuroscience : MN
Published: February 12, 2018

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

Journal: Molecular neurodegeneration
Published: November 13, 2017

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.

Journal: Cell and tissue research
Published: January 05, 2017
Showing 1-12 of 16

Last Updated: 09/26/2026