Fadie Altuame
Neurology Resident and Clinical Fellow with research in neurogenetics and infectious diseases
Summary
Work
Education
Writing
A Scoping Review of Arthropod-Borne Flavivirus Infections in Solid Organ Transplant Recipients
December 1, 2024This review examines the epidemiology, clinical characteristics, diagnostics, treatment, and outcomes of arthropod-borne flavivirus infections (like West Nile, dengue, Zika, and Japanese encephalitis viruses) in solid organ transplant recipients (SOTRs), noting higher morbidity and mortality compared to the general population.
PLXNA2 as a candidate gene in patients with intellectual disability
January 1, 2021Investigates PLXNA2 as a novel autosomal recessive intellectual disability candidate gene through combined autozygome/exome analysis in consanguineous families.
Further delineation of MYO18B‐related autosomal recessive Klippel‐Feil syndrome with myopathy and facial dysmorphism
January 1, 2021Details the natural history and updated description of clinical, radiological, and molecular findings for Klippel‐Feil syndrome 4 (KFS4) caused by MYO18B variants, which includes Klippel‐Feil anomaly, nemaline myopathy, facial dysmorphism, and short stature.
The natural history of infantile neuroaxonal dystrophy
January 1, 2020Outlines the natural history and provides a comprehensive description of infantile neuroaxonal dystrophy (INAD), a rapidly progressive neurodegenerative disorder caused by PLA2G6 variants.