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aberrant sod1 aggregates in skeletal muscle target fibers in amyotrophic lateral sclerosis
Original title: “Aberrant SOD1 aggregates in skeletal muscle target fibers in amyotrophic lateral sclerosis.”
skin colonizer disrupts inflammatory and humoral immune defenses in hidradenitis suppurativa
Original title: “A skin colonizer disrupts inflammatory and humoral immune defenses in hidradenitis suppurativa.”
clinical trial designs for rare disorders a scoping review of the effectiveness of pharmacologic interventions in fragile x syndrome
Original title: “Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome.”
in vitro cellular tropism and immunomodulatory response to rvsv g zebov gp in human cells derived from tissues associated with adverse events
Original title: “In vitro cellular tropism and immunomodulatory response to rVSVΔG-ZEBOV-GP in human cells derived from tissues associated with adverse events.”
treating microsatellite unstable metastatic parathyroid carcinoma with anti pd1 therapy
Original title: “Treating microsatellite unstable metastatic parathyroid carcinoma with anti-PD1 therapy.”
bilateral healing of pseudofractures in hypophosphatasia with teriparatide a case report
Original title: “Bilateral healing of pseudofractures in hypophosphatasia with teriparatide: a case report.”
real world study of management and outcomes of patients with lysosomal acid lipase deficiency lal d in france
Original title: “Real-World Study of Management and Outcomes of Patients with Lysosomal Acid Lipase Deficiency (LAL-D) in France.”
colchicine responsive dacron hypersensitivity after bentall procedure a rare trigger of diffuse coronary artery disease
Original title: “Colchicine-Responsive Dacron Hypersensitivity After Bentall Procedure: A Rare Trigger of Diffuse Coronary Artery Disease.”
population based epidemiology of autoimmune seizures and epilepsies
Original title: “Population-Based Epidemiology of Autoimmune Seizures and Epilepsies.”
pain medication use in patients with x linked hypophosphatemia treated with burosumab a retrospective real world study
Original title: “Pain medication use in patients with X-linked hypophosphatemia treated with burosumab: a retrospective real-world study.”
adverse event following immunization with domestic bivalent human papillomavirus vaccine in hebei province china 2022 2024
Original title: “Adverse event following immunization with domestic bivalent human papillomavirus vaccine in Hebei Province, China (2022-2024).”
hyper rapid progression in salmonella associated mycotic aortic aneurysms a narrative review
Original title: “Hyper-rapid progression in Salmonella-associated mycotic aortic aneurysms: a narrative review.”
identification of novel non coding genetic variants of serum urate using whole genome sequencing in 7 339 chinese
Original title: “Identification of Novel Non-coding Genetic Variants of Serum Urate Using Whole Genome Sequencing in 7,339 Chinese.”
optic atrophy in wolfram syndrome type 1 a retrospective analysis of visual outcomes and biomarker correlates
Original title: “Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.”
herpes zoster of the nipple a rare diagnostic challenge
Original title: “Herpes Zoster of the Nipple: A Rare Diagnostic Challenge.”
patient perspectives on late onset pompe disease insights from a 2025 patient snapshot survey on diagnosis treatment and quality of life
Original title: “Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life.”
past present and emerging antifungals against fusarium and other rare non aspergillus hyalohyphomycetes a narrative review
Original title: “Past, present, and emerging antifungals against Fusarium and other rare non-aspergillus hyalohyphomycetes: a narrative review.”
reconstruction of an unguarded tricuspid orifice using a simplified sliding plasty technique
Original title: “Reconstruction of an unguarded tricuspid orifice using a simplified sliding plasty technique.”
single persistent left superior vena cava draining into the left atrium causing neonatal cyanosis a case report
Original title: “Single Persistent Left Superior Vena Cava Draining Into the Left Atrium Causing Neonatal Cyanosis: A Case Report.”
interaction between glucose levels and body mass index on the regulation of circulating sphingolipidome in humans
Original title: “The interaction between glucose levels and body mass index on the regulation of circulating sphingolipidome in humans.”