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Neurocognitive phenotype of isolated methylmalonic acidemia.
O'Shea CJ, Sloan JL, Wiggs EA, Pao M, Gropman A, Baker EH, Manoli I, Venditti CP, Snow J. O'Shea CJ, et al. Among authors: pao m. Pediatrics. 2012 Jun;129(6):e1541-51. doi: 10.1542/peds.2011-1715. Epub 2012 May 21. Pediatrics. 2012. PMID: 22614770 Free PMC article. Clinical Trial.
CNS manifestations in patients with telomere biology disorders.
Bhala S, Best AF, Giri N, Alter BP, Pao M, Gropman A, Baker EH, Savage SA. Bhala S, et al. Among authors: pao m. Neurol Genet. 2019 Oct 29;5(6):370. doi: 10.1212/NXG.0000000000000370. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872047 Free PMC article.
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Chien YH, et al. Among authors: pao m. Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Orphanet J Rare Dis. 2015. PMID: 26289392 Free PMC article. Review.
The Met66 allele of the functional Val66Met polymorphism in the brain-derived neurotrophic factor gene confers protection against neurocognitive dysfunction in systemic lupus erythematosus.
Oroszi G, Lapteva L, Davis E, Yarboro CH, Weickert T, Roebuck-Spencer T, Bleiberg J, Rosenstein D, Pao M, Lipsky PE, Goldman D, Lipsky RH, Illei GG. Oroszi G, et al. Among authors: pao m. Ann Rheum Dis. 2006 Oct;65(10):1330-5. doi: 10.1136/ard.2006.051623. Epub 2006 Apr 10. Ann Rheum Dis. 2006. PMID: 16606648 Free PMC article.
CD40 ligand deficiency: neurologic sequelae with radiographic correlation.
Bishu S, Madhavan D, Perez P, Civitello L, Liu S, Fessler M, Holland SM, Jain A, Pao M. Bishu S, et al. Among authors: pao m. Pediatr Neurol. 2009 Dec;41(6):419-27. doi: 10.1016/j.pediatrneurol.2009.07.003. Pediatr Neurol. 2009. PMID: 19931163 Free PMC article.
143 results