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Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG. Law R, et al. Among authors: nguyen m. Am J Hum Genet. 2014 Dec 4;95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016. Am J Hum Genet. 2014. PMID: 25480035 Free PMC article.
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M, Zimmerman D, Jiang R, Nguyen M, Weile J, Li R, Gavac M, Kishore N, Sun S, Boonen RA, Hamilton R, Dines JN, Wahl A, Reuter J, Johnson B, Fowler DM, Couch FJ, van Attikum H, Roth FP. Gebbia M, et al. Among authors: nguyen m. Am J Hum Genet. 2024 Dec 5;111(12):2675-2692. doi: 10.1016/j.ajhg.2024.10.013. Am J Hum Genet. 2024. PMID: 39642869 Free PMC article.
Cationic peptides cause memory loss through endophilin-mediated endocytosis.
Stokes EG, Vasquez JJ, Azouz G, Nguyen M, Tierno A, Zhuang Y, Galinato VM, Hui M, Toledano M, Tyler I, Shi X, Hunt RF, Aoto J, Beier KT. Stokes EG, et al. Among authors: nguyen m. Nature. 2025 Jan 15. doi: 10.1038/s41586-024-08413-w. Online ahead of print. Nature. 2025. PMID: 39814881
Longitudinal visual outcomes in idiopathic intracranial hypertension: the role of early prognostic indicators and risk stratification in disease management.
Colman BD, Sanfilippo PG, Fok A, Le Nguyen MN, Kini R, Chakrabarti R, Sheth S, Raviskanthan S, Del Porto L, Shuey N, Hutton EJ, Fielding J, White O, Fraser CL, van der Walt A. Colman BD, et al. Among authors: le nguyen mn. J Neurol. 2025 Jan 15;272(2):108. doi: 10.1007/s00415-024-12859-3. J Neurol. 2025. PMID: 39812855
6,851 results