Karolina A. Gawinska-Aragon
Valencia, VC 46026, Spain
Last Updated: 09/26/2026
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Found 15 publications
Neuromuscular Symptoms of ORAI1-Related Immunodeficiency.
Journal: Journal of child neurology
Published: July 02, 2026
Adherence, Persistence, and Safety of Risdiplam in Spinal Muscular Atrophy: A Population-Based Cohort Study.
Journal: Neurology and therapy
Published: March 23, 2026
Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.
Journal: Journal of neurology
Published: February 08, 2026
Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.
Journal: NPJ genomic medicine
Published: September 17, 2025
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project.
Journal: Journal of neuromuscular diseases
Published: July 29, 2025
Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening.
Journal: Children (Basel, Switzerland)
Published: July 23, 2025
Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies.
Journal: European journal of neurology
Published: July 03, 2025
SIGMAR1 gene-related neuromuscular disorders - what do we know?
Journal: Neurologia i neurochirurgia polska
Published: May 17, 2025
Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.
Journal: Genes
Published: May 25, 2023
Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience.
Journal: Orphanet journal of rare diseases
Published: December 30, 2022
Response of plasma microRNAs to nusinersen treatment in patients with SMA.
Journal: Annals of clinical and translational neurology
Published: February 23, 2022
Last Updated: 09/26/2026