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Genetic Variability in Oxidative Stress, Inflammatory, and Neurodevelopmental Pathways: Impact on the Susceptibility and Course of Spinal Muscular Atrophy.

Cellular and molecular neurobiology - 27 Oct 2024

Barbo Maruša, Koritnik Blaž, Leonardis Lea, Blagus Tanja, Dolžan Vita, Ravnik-Glavač Metka

Abstract excerpt

The spinal muscular atrophy (SMA) phenotype strongly correlates with the SMN2 gene copy number. However, the severity and progression of the disease vary widely even among affected individuals with identical copy numbers. This study aimed to investigate the impact of genetic variability in oxidative stress, inflammatory, and neurodevelopmental pathways on SMA susceptibility and clinical progression. Genotyping...

Topics

Humans
Oxidative Stress
Female
Male
Genetic Predisposition to Disease
Muscular Atrophy, Spinal
Polymorphism, Single Nucleotide
Inflammation
Child, Preschool
Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Variation

Infant

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Open in PubMed Open full text

Identifiers

PMID: 39463208
DOI: 10.1007/s10571-024-01508-y
PMCID: PMC11513727

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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