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

Year Number of Results
1993 1
2001 1
2002 3
2003 9
2004 6
2005 5
2006 6
2007 2
2008 7
2009 4
2010 3
2011 6
2012 8
2013 12
2014 12
2015 9
2016 19
2017 13
2018 14
2019 4
2020 17
2021 27
2022 14
2023 28
2024 10

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215 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
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.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Pediatric neurotransmitter diseases.
Pearl PL, Wallis DD, Gibson KM. Pearl PL, et al. Curr Neurol Neurosci Rep. 2004 Mar;4(2):147-52. doi: 10.1007/s11910-004-0029-1. Curr Neurol Neurosci Rep. 2004. PMID: 14984687 Review.
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.
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.
215 results