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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Vanderver A, et al. Among authors: pearl p. Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375884 Free PMC article.
International telemedicine consultations for neurodevelopmental disabilities.
Pearl PL, Sable C, Evans S, Knight J, Cunningham P, Lotrecchiano GR, Gropman A, Stuart S, Glass P, Conway A, Ramadan I, Paiva T, Batshaw ML, Packer RJ. Pearl PL, et al. Telemed J E Health. 2014 Jun;20(6):559-62. doi: 10.1089/tmj.2013.0275. Epub 2014 Mar 24. Telemed J E Health. 2014. PMID: 24660879
SCN8A encephalopathy: Research progress and prospects.
Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. Meisler MH, et al. Epilepsia. 2016 Jul;57(7):1027-35. doi: 10.1111/epi.13422. Epub 2016 Jun 8. Epilepsia. 2016. PMID: 27270488 Free PMC article.
Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms.
Harini C, Sharda S, Bergin AM, Poduri A, Yuskaitis CJ, Peters JM, Rakesh K, Kapur K, Pearl PL, Prabhu SP. Harini C, et al. Among authors: pearl pl. J Child Neurol. 2018 May;33(6):405-412. doi: 10.1177/0883073818760424. Epub 2018 Mar 26. J Child Neurol. 2018. PMID: 29575949
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.
Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, Novotny EJ, Gropman A, Conry JA, Berry GT, Tuchman M. Pearl PL, et al. Neurology. 2003 May 13;60(9):1413-7. doi: 10.1212/01.wnl.0000059549.70717.80. Neurology. 2003. PMID: 12743223
262 results