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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 2
1990 1
1993 1
1999 1
2001 3
2002 6
2003 10
2004 8
2005 7
2006 6
2007 6
2008 8
2009 9
2010 3
2011 6
2012 8
2013 13
2014 13
2015 9
2016 22
2017 16
2018 14
2019 4
2020 17
2021 28
2022 14
2023 29
2024 12

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249 results

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Page 1
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Among authors: pearl pl. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: pearl pl. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Treatable inherited metabolic epilepsies.
Latzer IT, Pearl PL. Latzer IT, et al. Among authors: pearl pl. Epilepsy Behav. 2024 Feb;151:109621. doi: 10.1016/j.yebeh.2024.109621. Epub 2024 Jan 17. Epilepsy Behav. 2024. PMID: 38237465 Review.
Child neurology, COVID-19, and crisis in society.
Pearl PL. Pearl PL. Dev Med Child Neurol. 2020 Oct;62(10):1113. doi: 10.1111/dmcn.14624. Dev Med Child Neurol. 2020. PMID: 33448361 Free article. No abstract available.
Landau-Kleffner syndrome.
Rotenberg J, Pearl PL. Rotenberg J, et al. Among authors: pearl pl. Arch Neurol. 2003 Jul;60(7):1019-21. doi: 10.1001/archneur.60.7.1019. Arch Neurol. 2003. PMID: 12873863 No abstract available.
The genetics of the epilepsies.
El Achkar CM, Olson HE, Poduri A, Pearl PL. El Achkar CM, et al. Among authors: pearl pl. Curr Neurol Neurosci Rep. 2015 Jul;15(7):39. doi: 10.1007/s11910-015-0559-8. Curr Neurol Neurosci Rep. 2015. PMID: 26008807 Review.
Epilepsy Syndromes in Childhood.
Pearl PL. Pearl PL. Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):186-209. doi: 10.1212/CON.0000000000000568. Continuum (Minneap Minn). 2018. PMID: 29432243 Review.
Monoamine neurotransmitter deficiencies.
Pearl PL. Pearl PL. Handb Clin Neurol. 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4. Handb Clin Neurol. 2013. PMID: 23622404 Review.
249 results