Hong-fu Y. Li

88 Jiefang Road
Hangzhou, 310009, China

Last Updated: 09/26/2026

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Found 62 publications

Pathogenicity Classification of TARDBP Variants of Uncertain Significance: An Integrative Clinical Characterization and Functional Validation.

Pathogenicity Classification of TARDBP Variants of Uncertain Significance: An Integrative Clinical Characterization and Functional Validation.

Journal: Cells

Published: April 30, 2026

Preclinical evidence for icariin in Alzheimer's disease: Methodological quality, efficacy, and mechanisms.

Preclinical evidence for icariin in Alzheimer's disease: Methodological quality, efficacy, and mechanisms.

Journal: Ageing research reviews

Published: March 27, 2026

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

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

Published: November 10, 2025

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.

Journal: Annals of clinical and translational neurology

Published: April 02, 2025

Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.

Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.

Journal: Annals of medicine

Published: October 01, 2024

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

Single-Nucleus RNA Sequencing Reveals the Spatiotemporal Dynamics of Disease-Associated Microglia in Amyotrophic Lateral Sclerosis.

Single-Nucleus RNA Sequencing Reveals the Spatiotemporal Dynamics of Disease-Associated Microglia in Amyotrophic Lateral Sclerosis.

Journal: Research (Washington, D.C.)

Published: June 23, 2024

Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.

Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.

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

Published: December 03, 2023

Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.

Genetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.

Journal: Pediatric neurology

Published: October 03, 2023

Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.

Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.

Journal: Neuroscience bulletin

Published: June 27, 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

Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia.

Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia.

Journal: Clinical genetics

Published: July 11, 2022

Showing 1-12 of 62

Last Updated: 09/26/2026