Si Chen

Hangzhou, 310009, China

Last Updated: 09/26/2026

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Found 13 publications

Targeting TBK1 attenuates ocular inflammation in uveitis by antagonizing NF-κB signaling.

Targeting TBK1 attenuates ocular inflammation in uveitis by antagonizing NF-κB signaling.

Journal: Clinical immunology (Orlando, Fla.)

Published: October 10, 2022

Novel Findings of Retinal and Choroidal Features Utilizing Optical Coherence Tomography Angiography Analysis in Patients With Autoimmune Posterior Uveitis.

Novel Findings of Retinal and Choroidal Features Utilizing Optical Coherence Tomography Angiography Analysis in Patients With Autoimmune Posterior Uveitis.

Journal: Frontiers in medicine

Published: October 24, 2021

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.

Journal: Neurology India

Published: March 01, 2021

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.

Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.

Journal: Chinese medical journal

Published: September 17, 2020

MYORG Mutation Heterozygosity Is Associated With Brain Calcification.

MYORG Mutation Heterozygosity Is Associated With Brain Calcification.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 29, 2019

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.

Journal: Brain : a journal of neurology

Published: August 15, 2019

A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.

A novel homozygous SYNJ1 mutation in two siblings with typical Parkinson's disease.

Journal: Parkinsonism & related disorders

Published: August 07, 2019

Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.

Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 22, 2019

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.

Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.

Journal: Parkinsonism & related disorders

Published: January 02, 2019

LRP10 in autosomal-dominant Parkinson's disease.

LRP10 in autosomal-dominant Parkinson's disease.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 02, 2018

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia.

A Novel Homozygous CAPN1 Pathogenic Variant in a Chinese Patient with Pure Hereditary Spastic Paraplegia.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: October 31, 2018

Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.

Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 03, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026