Identifying biomarkers of spinal muscular atrophy for further development

J Glascock, BT Darras, TO Crawford… - Journal of …, 2023 - content.iospress.com
Background: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of
the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival …

[HTML][HTML] The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era

M Maretina, V Koroleva, L Shchugareva, A Glotov… - Biomedicines, 2024 - mdpi.com
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder that currently has an
approved treatment for all forms of the disease. Previously, biomarkers were primarily used …

Development of 2′-O-Methyl and LNA Antisense Oligonucleotides for SMN2 Splicing Correction in SMA Cells

M Maretina, A Il'ina, A Egorova, A Glotov, A Kiselev - Biomedicines, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease caused by
mutations in the SMN1 gene. Existing therapies demonstrate positive results on SMA …

Assessment of Nuclear Gem Quantity for Evaluating the Efficacy of Antisense Oligonucleotides in Spinal Muscular Atrophy Cells

H Al-Hilal, M Maretina, A Egorova, A Glotov… - Methods and …, 2024 - mdpi.com
Spinal muscular atrophy is a neuromuscular disorder caused by mutations in both copies of
the survival motor neuron gene 1 (SMN1), which lead to reduction in the production of the …

Quantification of the Number of Nuclear Gems as a Potential Biomarker for Spinal Muscular Atrophy

H Al-Hilal, M Maretina, A Egorova, A Glotov, A Kiselev - 2023 - preprints.org
Spinal muscular atrophy is a neuromuscular disorder caused by mutationsin both copies of
the survival motor neuron gene 1 (SMN1) which lead to reduction in the production of the …