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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 21
2017 16
2018 14
2019 4
2020 17
2021 28
2022 15
2023 29
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2025 16

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275 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
Epilepsy syndromes classification.
Wirrell EC, Specchio N, Nabbout R, Pearl PL, Riney K. Wirrell EC, et al. Among authors: pearl pl. Epilepsia Open. 2025 Mar 22. doi: 10.1002/epi4.70026. Online ahead of print. Epilepsia Open. 2025. PMID: 40120083 Free article.
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.
Editorial: Seizures in brain tumors.
Mofatteh M, Arfaie S, Mashayekhi MS, Pearl PL, Das S, Cohen-Gadol A. Mofatteh M, et al. Among authors: pearl pl. Front Surg. 2024 Oct 29;11:1504572. doi: 10.3389/fsurg.2024.1504572. eCollection 2024. Front Surg. 2024. PMID: 39534693 Free PMC article. No abstract available.
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.
Creativity and its link to epilepsy.
Tokatly Latzer I, Pearl PL. Tokatly Latzer I, et al. Among authors: pearl pl. Epilepsia Open. 2024 Nov 26. doi: 10.1002/epi4.13108. Online ahead of print. Epilepsia Open. 2024. PMID: 39589388 Free article. 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.
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.
275 results