Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.


The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page


My NCBI Filters

Results by year

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 12
2014 13
2015 9
2016 21
2017 16
2018 14
2019 4
2020 17
2021 27
2022 14
2023 11

Text availability

Article attribute

Article type

Publication date

Search Results

219 results

Results by year

Filters applied: . Clear all
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.
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.
Childhood-onset hereditary spastic paraplegia and its treatable mimics.
Ebrahimi-Fakhari D, Saffari A, Pearl PL. Ebrahimi-Fakhari D, et al. Among authors: pearl pl. Mol Genet Metab. 2022 Dec;137(4):436-444. doi: 10.1016/j.ymgme.2021.06.006. Epub 2021 Jun 24. Mol Genet Metab. 2022. PMID: 34183250 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
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.
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.
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.
219 results