Huaxia Luo

No.5 Le Yuan Road
Beijing, 100034, China

Last Updated: 09/26/2026

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Found 26 publications

Circular RNA in human brain: Systematic review of synaptic functions and disease associations.

Circular RNA in human brain: Systematic review of synaptic functions and disease associations.

Journal: International journal of biological macromolecules

Published: September 22, 2025

A novel mouse model for LAMA2-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype.

A novel mouse model for LAMA2-related muscular dystrophy with analysis of molecular pathogenesis and clinical phenotype.

Journal: eLife

Published: September 17, 2025

CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.

CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.

Journal: Pediatric investigation

Published: August 22, 2025

Expert consensus on clinical genome sequencing interpretation and reporting.

Expert consensus on clinical genome sequencing interpretation and reporting.

Journal: Yi chuan = Hereditas

Published: March 11, 2025

Proteome-Wide and Immune Cell Phenotype Mendelian Randomization Highlights Immune Involvement in Genetic Generalized Epilepsy.

Proteome-Wide and Immune Cell Phenotype Mendelian Randomization Highlights Immune Involvement in Genetic Generalized Epilepsy.

Journal: Brain and behavior

Published: March 02, 2025

Mechanistic Insights into Drug-Induced Guillain-Barré Syndrome: A Large-Cohort Analysis of the FAERS Database.

Mechanistic Insights into Drug-Induced Guillain-Barré Syndrome: A Large-Cohort Analysis of the FAERS Database.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: March 01, 2025

Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights.

Deep sequencing reveals SLC35A2 somatic variants in MOGHE: molecular and clinical insights.

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

Published: February 17, 2025

Pathogen Adaptation of HLA Alleles and Its Correlation with Autoimmune Diseases in the Han Chinese.

Pathogen Adaptation of HLA Alleles and Its Correlation with Autoimmune Diseases in the Han Chinese.

Journal: Genomics, proteomics & bioinformatics

Published: November 25, 2024

Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).

Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).

Journal: Acta neuropathologica

Published: November 03, 2024

SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome.

SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome.

Journal: Functional & integrative genomics

Published: October 28, 2024

RNA sequencing facilitates the identification of genetic causes of Duchenne muscular dystrophy and proposes a stepwise DMD diagnostic procedure.

RNA sequencing facilitates the identification of genetic causes of Duchenne muscular dystrophy and proposes a stepwise DMD diagnostic procedure.

Journal: Gene

Published: May 28, 2024

Lama1 upregulation prolongs the lifespan of the dyH/dyH mouse model of LAMA2-related congenital muscular dystrophy.

Lama1 upregulation prolongs the lifespan of the dyH/dyH mouse model of LAMA2-related congenital muscular dystrophy.

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

Published: May 12, 2024

Showing 1-12 of 26

Last Updated: 09/26/2026