Xingyu Xia

No.12 Middle Wulumuqi Road
Shanghai, China

Last Updated: 09/26/2026

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Found 15 publications

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

Journal: Human molecular genetics

Published: November 17, 2025

Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders.

Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders.

Journal: Degenerative neurological and neuromuscular disease

Published: September 20, 2025

Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.

Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.

Journal: Journal of human genetics

Published: September 16, 2025

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Expanded spectrum of MEGF10 related myopathies: late-onset myofibrillar myopathy-like phenotype with novel variants.

Journal: Neuromuscular disorders : NMD

Published: May 26, 2025

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.

Journal: Journal of human genetics

Published: February 21, 2025

Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2.

Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2.

Journal: Brain : a journal of neurology

Published: February 20, 2025

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene.

Journal: Stem cell research

Published: July 05, 2024

4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.

4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.

Journal: The Journal of molecular diagnostics : JMD

Published: July 04, 2024

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Journal: Journal of inherited metabolic disease

Published: June 12, 2024

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Journal: Journal of medical genetics

Published: May 30, 2024

A predictive nomogram for short-term outcomes of myasthenia gravis patients treated with low-dose rituximab.

A predictive nomogram for short-term outcomes of myasthenia gravis patients treated with low-dose rituximab.

Journal: CNS neuroscience & therapeutics

Published: October 11, 2023

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Journal: JIMD reports

Published: August 04, 2023

Showing 1-12 of 15

Last Updated: 09/26/2026