Xinying Yang

Beijing, China

Last Updated: 09/26/2026

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Found 11 publications

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.

Journal: Journal of neuromuscular diseases

Published: August 23, 2025

A natural history study of Chinese individuals with Duchenne muscular dystrophy: Results from 2 years of follow-up and beyond.

A natural history study of Chinese individuals with Duchenne muscular dystrophy: Results from 2 years of follow-up and beyond.

Journal: PloS one

Published: March 30, 2025

Clinical characteristics of anti-neurofascin 155 antibody-positive autoimmune nodopathy in children.

Clinical characteristics of anti-neurofascin 155 antibody-positive autoimmune nodopathy in children.

Journal: Pediatric investigation

Published: December 23, 2024

The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients.

The clinical spectrum and pathogenesis associated with KMT2B variants in Chinese pediatric patients.

Journal: Parkinsonism & related disorders

Published: June 06, 2024

S100A8/A9 as a prognostic biomarker with causal effects for post-acute myocardial infarction heart failure.

S100A8/A9 as a prognostic biomarker with causal effects for post-acute myocardial infarction heart failure.

Journal: Nature communications

Published: May 10, 2023

HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.

HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.

Journal: Neuromuscular disorders : NMD

Published: March 24, 2023

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.

Journal: Frontiers in pharmacology

Published: September 16, 2020

Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome.

Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome.

Journal: European journal of medical genetics

Published: July 13, 2020

Circulating miRNAs Related to Long-term Adverse Cardiovascular Events in STEMI Patients: A Nested Case-Control Study.

Circulating miRNAs Related to Long-term Adverse Cardiovascular Events in STEMI Patients: A Nested Case-Control Study.

Journal: The Canadian journal of cardiology

Published: November 23, 2019

S100a8/a9 Signaling Causes Mitochondrial Dysfunction and Cardiomyocyte Death in Response to Ischemic/Reperfusion Injury.

S100a8/a9 Signaling Causes Mitochondrial Dysfunction and Cardiomyocyte Death in Response to Ischemic/Reperfusion Injury.

Journal: Circulation

Published: June 22, 2019

Diagnosis of mitochondrial disorders in children with next generation sequencing

Diagnosis of mitochondrial disorders in children with next generation sequencing

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: January 14, 2016

Showing 1-11 of 11

Last Updated: 09/26/2026