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

Year Number of Results
1996 1
1998 1
1999 3
2000 3
2001 2
2002 2
2003 1
2004 2
2005 2
2006 1
2007 1
2008 2
2011 4
2013 2
2014 2
2015 1
2017 1
2020 1
2024 0

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PubMed for id: 11782

31 results

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Page 1
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D; AR working group of the EuroEPINOMICS RES Consortium; Helbig I, Suls A, Balling R, Weckhuysen S, De Jonghe P, Hirst J. Hardies K, et al. Hum Mol Genet. 2015 Apr 15;24(8):2218-27. doi: 10.1093/hmg/ddu740. Epub 2014 Dec 30. Hum Mol Genet. 2015. PMID: 25552650 Free PMC article.
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. Abou Jamra R, et al. Am J Hum Genet. 2011 Jun 10;88(6):788-795. doi: 10.1016/j.ajhg.2011.04.019. Epub 2011 May 27. Am J Hum Genet. 2011. PMID: 21620353 Free PMC article.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
The AP-3 complex: a coat of many colours.
Odorizzi G, Cowles CR, Emr SD. Odorizzi G, et al. Trends Cell Biol. 1998 Jul;8(7):282-8. doi: 10.1016/s0962-8924(98)01295-1. Trends Cell Biol. 1998. PMID: 9714600 Review.
Mutagenesis of diploid mammalian genes by gene entrapment.
Lin Q, Donahue SL, Moore-Jarrett T, Cao S, Osipovich AB, Ruley HE. Lin Q, et al. Nucleic Acids Res. 2006;34(20):e139. doi: 10.1093/nar/gkl728. Epub 2006 Oct 24. Nucleic Acids Res. 2006. PMID: 17062627 Free PMC article.
31 results