Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51625
Abstract: To investigate biomarkers of disease progression in cerebrospinal fluid (CSF) and serum in adult patients with spinal muscular atrophy (SMA). Furthermore, we assess the clinical response to nusinersen treatment in adults with SMA over a… read more here.
Keywords: adult sma; biochemical clinical; clinical biomarkers; patients treated ... See more keywords
Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Neurology"
DOI: 10.1007/s00415-025-12909-4
Abstract: Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by biallelic mutations in the SMN1 gene, leading to progressive muscle weakness due to degeneration of the anterior horn cells. Since 2017, SMA patients can… read more here.
Keywords: spinal muscular; analysis; muscular atrophy; sma patients ... See more keywords
Gray and white matter abnormalities in children with type 2 and 3 SMA: A morphological assessment
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-023-05397-z
Abstract: This study investigated the changes in brain gray and white matter structure in SMA patients and their correlation with the severity of the disease. A total of 43 SMA patients (including 22 type II and… read more here.
Keywords: gray white; white matter; gray matter; sma patients ... See more keywords
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Human Genetics"
DOI: 10.1007/s00439-019-01983-0
Abstract: Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed targeted capture and sequencing of the… read more here.
Keywords: sequencing smn2; deletion; gene; sma patients ... See more keywords
SMA mutations in SMN Tudor and C-terminal domains destabilize the protein
Sign Up to like & getrecommendations! Published in 2017 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.03.002
Abstract: BACKGROUND AND PURPOSE Most spinal muscular atrophy (SMA) patients are homozygous for survival of motor neuron 1 gene (SMN1) deletion. However, some SMA patients carry an intragenic SMN1 mutation. Such patients provide a clue to… read more here.
Keywords: smn1; sma patients; mutations smn; smn ... See more keywords
Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2022.982760
Abstract: Background and objectives Multisystem involvement in spinal muscular atrophy (SMA) is gaining prominence since different therapeutic options are emerging, making the way for new SMA phenotypes and consequent challenges in clinical care. Defective immune organs… read more here.
Keywords: pediatric adult; serum; sma; sma patients ... See more keywords
The Maximum Bite Force for Treatment Evaluation in Severely Affected Adult SMA Patients—Protocol for a Longitudinal Study
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00139
Abstract: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of motor neurons in the spinal cord, and comprises a broad clinical spectrum. With the advent of new therapies (e.g., Nusinersen) for… read more here.
Keywords: sma patients; severely affected; maximum bite; force ... See more keywords
Quality of Life in SMA Patients Under Treatment With Nusinersen
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.626787
Abstract: Background: Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with the potential to… read more here.
Keywords: sma patients; gqol; treatment; sma ... See more keywords
Cognitive Impairment in Adult Patients with 5q-Associated Spinal Muscular Atrophy
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DOI: 10.3390/brainsci11091184
Abstract: In previous studies, a below-average, average, or above-average intelligence quotient (IQ) in children with SMA was detected but, aside from a severe physical disability, the cognitive performance of adult SMA patients has not yet been… read more here.
Keywords: intelligence; sma patients; index; adult ... See more keywords
New Perspectives of Underlying Cardiomyopathy in Pediatric SMA Patients—An Age Matched Control Study
Sign Up to like & getrecommendations! Published in 2025 at "Life"
DOI: 10.3390/life15071091
Abstract: Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder primarily affecting motor neurons. Emerging evidence suggests it also involves multiple organs, including potential cardiac manifestations. This study aimed to evaluate cardiac abnormalities in pediatric SMA… read more here.
Keywords: sma; sma patients; age matched; pediatric sma ... See more keywords