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- Late-Onset Ataxia, Chorea, Cognitive Impairment, and Insomnia: Expanding the Phenotype of IRF2BPL-Related Disease
- Salhin Alatrash, Duncan Street, Mary O’Driscoll, Amrit-Deep Samra
- J Mov Disord. 2025;18(3):274-276. Published online April 15, 2025
- DOI: https://doi.org/10.14802/jmd.25030
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- IRF2BPL mutations in rare childhood brain disorders: from genetics to pathophysiology
Mauricio Javier Sanchez-Castellanos, Albert Frank Magnusen, Manoj Kumar Pandey
Exploration of Neuroprotective Therapy.2026;[Epub] CrossRef - Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.2026;[Epub] CrossRef
- IRF2BPL mutations in rare childhood brain disorders: from genetics to pathophysiology
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