Yujin Qu

No 2, Ya Bao Road
Beijing, 100020, China

Last Updated: 09/26/2026

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Found 19 publications

Molecular Genetic Diagnosis of Spinal Muscular Atrophy: Clinical Utility, Challenges, and Lessons Learned from Illustrative Cases in a Single Center.

Molecular Genetic Diagnosis of Spinal Muscular Atrophy: Clinical Utility, Challenges, and Lessons Learned from Illustrative Cases in a Single Center.

Journal: Genes
Published: July 01, 2026

Clinical spectrum and ascertainment pathways in pediatric female dystrophinopathy.

Clinical spectrum and ascertainment pathways in pediatric female dystrophinopathy.

Journal: Italian journal of pediatrics
Published: May 18, 2026

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.

Journal: Italian journal of pediatrics
Published: January 21, 2025

Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.

Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.

Journal: Frontiers in neurology
Published: October 16, 2024

Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy

Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 30, 2024

Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.

Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.

Journal: Frontiers in neurology
Published: February 15, 2024

A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.

A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: November 13, 2023

Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.

Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.

Journal: Heliyon
Published: June 09, 2023

Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy.

Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy.

Journal: Neuromuscular disorders : NMD
Published: September 26, 2022

Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.

Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.

Journal: Human molecular genetics
Published: September 22, 2021

Bone mineral density and its influencing factors in Chinese children with spinal muscular atrophy types 2 and 3.

Bone mineral density and its influencing factors in Chinese children with spinal muscular atrophy types 2 and 3.

Journal: BMC musculoskeletal disorders
Published: January 18, 2021

Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay.

Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay.

Journal: Neuromuscular disorders : NMD
Published: August 12, 2020
Showing 1-12 of 19

Last Updated: 09/26/2026