Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Neuromuscular disorders : NMD - 1 May 2023

Bai Jinli, Qu Yujin, OuYang Shijia, Jiao Hui, Wang Yang, Li Jingjing, Huang Wenchen, Zhao Yunlong, Peng Xiaoyin, Wang Depeng, Jin Yuwei, Wang Hong, Song Fang

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by biallelic variants of the survival motor neuron 1 (SMN1) gene. In this study, our aim was to make a molecular diagnosis in two patients with SMA carrying only one SMN1 copy number. Using ultra-long read sequencing (Ultra-LRS), 1415 bp deletion and 3348 bp deletion of the SMN1 gene were identified in patient 1 and the father of patient 2,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Homozygote
Share to Motor Neurons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Mutation

Share to Neurogenetic and Muscular Disorders Research

Share to Promoter Regions, Genetic

Share to RNA modifications and cancer

Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 37023488
DOI: 10.1016/j.nmd.2023.03.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy.PMID 37023488Read ↗

Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing.Semantic proximity Read ↗

Case Report: Resolving a Diagnostic Odyssey in Spinal Muscular Atrophy Using HiFi Long-Read Whole Genome SequencingSemantic proximity Read ↗

Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.Semantic proximity Read ↗

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational studySemantic proximity Read ↗

Survival Motor Neuron Gene Copy Number Analysis by Exome Sequencing: Assisting Spinal Muscular Atrophy Diagnosis and Carrier Screening.Semantic proximity Read ↗

Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophySemantic proximity Read ↗

Long-read sequencing identifies copy-specific markers of<i>SMN</i>gene conversion in spinal muscular atrophySemantic proximity Read ↗

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counselingSemantic proximity Read ↗

Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.Semantic proximity Read ↗

High-throughput screening reveals novel mutations in spinal muscular atrophy patients.Semantic proximity Read ↗

Comprehensive Analysis of Spinal Muscular Atrophy: SMN1 Copy Number, Intragenic Mutation, and 2 + 0 Carrier Analysis by Third-Generation Sequencing.Semantic proximity Read ↗

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.