Soledad Monges
Hospital De Pediatría Prof. Dr. Juan P. Garrahan, Combate De Los Pozos 1881
B, Argentina
B, Argentina
Last Updated: 09/26/2026
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Found 38 publications
Peroxisomal disorder associated with ACOX1 gain-of-function mimicking neuroinflammatory disease.
Journal: Neuromuscular disorders : NMD
Published: April 02, 2026
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.
Journal: Human mutation
Published: January 25, 2026
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.
Journal: Annals of clinical and translational neurology
Published: August 22, 2025
NAXD Encephalopathy Mimicking Neuroinflammatory Disease.
Journal: American journal of medical genetics. Part A
Published: May 01, 2025
Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study.
Journal: Lancet regional health. Americas
Published: March 12, 2025
Large-scale profiling of antibody reactivity to glycolipids in patients with Guillain-Barré syndrome.
Journal: Brain : a journal of neurology
Published: November 08, 2024
A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon.
Journal: Gene
Published: May 13, 2024
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.
Journal: Annals of clinical and translational neurology
Published: February 07, 2023
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Journal: Acta neuropathologica communications
Published: June 17, 2022
Last Updated: 09/26/2026