Xiaona T. Fu

Beijing, China

Last Updated: 09/26/2026

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Found 21 publications

Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.

Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China.

Journal: CNS neuroscience & therapeutics

Published: June 21, 2026

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

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

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.

Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.

Journal: Journal of neuromuscular diseases

Published: July 16, 2025

Global incidence of childhood cancer by subtype in 2022: a population-based registry study.

Global incidence of childhood cancer by subtype in 2022: a population-based registry study.

Journal: EClinicalMedicine

Published: July 15, 2025

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome.

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome.

Journal: Frontiers in pediatrics

Published: April 09, 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

Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family.

Prenatal Diagnosis of Fukuyama Congenital Muscular Dystrophy by Optical Genomic Mapping in a Chinese Family.

Journal: Maternal-fetal medicine (Wolters Kluwer Health, Inc.)

Published: April 22, 2024

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

Simultaneous T1, T2, and T2* Mapping of Carotid Plaque: The SIMPLE* Technique.

Simultaneous T1, T2, and T2* Mapping of Carotid Plaque: The SIMPLE* Technique.

Journal: Radiology

Published: February 28, 2023

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Journal: Clinical genetics

Published: September 17, 2020

A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.

A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients.

Journal: Clinical genetics

Published: October 30, 2019

Showing 1-12 of 21

Last Updated: 09/26/2026