Hui-zhen Su

Fuzhou, 350005, China

Last Updated: 09/26/2026

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Found 18 publications

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Journal: Annals of clinical and translational neurology

Published: April 10, 2024

Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model.

Antisense oligonucleotides enhance SLC20A2 expression and suppress brain calcification in a humanized mouse model.

Journal: Neuron

Published: July 18, 2023

A Comparison and Analysis of Three Methods of Aluminum Crown Forgings in Processing Optimization.

A Comparison and Analysis of Three Methods of Aluminum Crown Forgings in Processing Optimization.

Journal: Materials (Basel, Switzerland)

Published: October 15, 2022

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.

Journal: Cell discovery

Published: January 21, 2022

Knockdown of myorg leads to brain calcification in zebrafish.

Knockdown of myorg leads to brain calcification in zebrafish.

Journal: Molecular brain

Published: October 14, 2021

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.

Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.

Journal: Frontiers in genetics

Published: June 29, 2021

Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report.

Idiopathic basal ganglia calcification associated with new MYORG mutation site: A case report.

Journal: World journal of clinical cases

Published: January 11, 2021

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

Identification of SLC20A2 deletions in patients with primary familial brain calcification.

Identification of SLC20A2 deletions in patients with primary familial brain calcification.

Journal: Clinical genetics

Published: January 12, 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

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

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.

Journal: Human mutation

Published: August 16, 2018

Showing 1-12 of 18

Last Updated: 09/26/2026