Zhiru Lin

Hangzhou, China

Last Updated: 09/26/2026

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Found 14 publications

Brain calcification-associated JAM2 pathogenic mutations impair JAM2-JAM3 tight junction structure and the blood-brain barrier integrity.

Brain calcification-associated JAM2 pathogenic mutations impair JAM2-JAM3 tight junction structure and the blood-brain barrier integrity.

Journal: Brain pathology (Zurich, Switzerland)

Published: November 16, 2025

A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease.

A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease.

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

Published: August 08, 2025

Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.

Genetic and Phenotypic Overlap Between Primary Brain Calcification and Paroxysmal Dyskinesia.

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

Published: July 03, 2025

Correlation of MRI Markers with Clinical Features in Multiple System Atrophy.

Correlation of MRI Markers with Clinical Features in Multiple System Atrophy.

Journal: AJNR. American journal of neuroradiology

Published: April 13, 2025

The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China.

The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China.

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

Published: October 28, 2024

A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification.

A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification.

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

Published: April 28, 2024

Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.

Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: March 18, 2024

Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.

Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson's disease.

Journal: NPJ Parkinson's disease

Published: March 08, 2024

Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus.

Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus.

Journal: European journal of human genetics : EJHG

Published: November 08, 2023

Isolated Head Tremor as an Initial Presentation of Ataxia with Vitamin E Deficiency: A Case Report.

Isolated Head Tremor as an Initial Presentation of Ataxia with Vitamin E Deficiency: A Case Report.

Journal: Movement disorders clinical practice

Published: May 24, 2023

A DLB patient with complicated CAA interruptions and intermediate alleles of 43 CAG/CAA repeats in TBP.

A DLB patient with complicated CAA interruptions and intermediate alleles of 43 CAG/CAA repeats in TBP.

Journal: Acta neurologica Belgica

Published: May 09, 2023

The role of NOTCH2NLC in Parkinson's disease: A clinical, neuroimaging, and pathological study.

The role of NOTCH2NLC in Parkinson's disease: A clinical, neuroimaging, and pathological study.

Journal: European journal of neurology

Published: December 09, 2021

Showing 1-12 of 14

Last Updated: 09/26/2026