Article

Clinically Discordant Siblings with Spinal Muscular Atrophy: Insights from Patient-Specific iPSC-Derived Motor Neurons and Literature Review

2025-09-12

Abstract excerpt

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous loss of the SMN1 gene. Copy number of the nearly identical paralog, SMN2, correlates with disease severity. SMN2 is the primary modifier of SMA, with only a few other modifiers reported. We reviewed the literature of rare siblings affected by SMA that show discordance in clinical presentation despite having the same number of SMN2 co...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e69e205c-1299-5140-89fd-01480c47c1a1
DOI: 10.1101/2025.09.11.25335332

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinically Discordant Siblings with Spinal Muscular Atrophy: Insights from Patient-Specific iPSC-Derived Motor Neurons and Literature ReviewDOI 10.1101/2025.09.11.25335332Read

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophySemantic proximity Read

Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature.Semantic proximity Read

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.Semantic proximity Read

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.Semantic proximity Read

Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular AtrophySemantic proximity Read

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity Read

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

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.Semantic proximity Read

Patient-specific responses to <i>SMN2</i> splice-modifying treatments in spinal muscular atrophy fibroblastsSemantic proximity Read

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

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort.Semantic proximity Read

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