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

Year Number of Results
2001 1
2006 1
2009 2
2010 4
2011 3
2012 2
2013 4
2014 4
2015 7
2016 19
2017 17
2018 19
2019 25
2020 31
2021 30
2022 24
2023 2
2024 0

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Similar articles for PMID: 30816001

171 results

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Page 1
Recessive ITPA mutations cause an early infantile encephalopathy.
Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS. Kevelam SH, et al. Ann Neurol. 2015 Oct;78(4):649-58. doi: 10.1002/ana.24496. Epub 2015 Aug 21. Ann Neurol. 2015. PMID: 26224535
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Saitsu H, et al. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966631 Free PMC article.
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR. Handley MT, et al. PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30856165 Free PMC article.
[Early infantile epileptic encephalopathy due to ITPA mutation].
Alcón-Grases M, Ferrer-Aliaga N, Salinas-Salvador B, Pérez-Delgado R, Castejón-Ponce E, García-Jiménez MC, Izquierdo-Álvarez S, López-Pisón J. Alcón-Grases M, et al. Rev Neurol. 2020 Sep 1;71(5):197-198. doi: 10.33588/rn.7105.2020239. Rev Neurol. 2020. PMID: 32729112 Free article. Spanish.
171 results