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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: paciorkowski ar. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR. McMahon KQ, et al. Among authors: paciorkowski ar. Am J Med Genet A. 2015 Dec;167A(12):3096-102. doi: 10.1002/ajmg.a.37353. Epub 2015 Sep 14. Am J Med Genet A. 2015. PMID: 26364767 Free PMC article.
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. Papandreou A, et al. Among authors: paciorkowski ar. Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029630 Free PMC article.
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR. Hansen J, et al. Among authors: paciorkowski ar. Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013. Am J Hum Genet. 2015. PMID: 25839329 Free PMC article.
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT. Silveira-Moriyama L, et al. Among authors: paciorkowski ar. Dev Med Child Neurol. 2018 Jun;60(6):559-565. doi: 10.1111/dmcn.13744. Epub 2018 Mar 30. Dev Med Child Neurol. 2018. PMID: 29600549 Free article. Review.
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN).
Gregory A, Lotia M, Jeong SY, Fox R, Zhen D, Sanford L, Hamada J, Jahic A, Beetz C, Freed A, Kurian MA, Cullup T, van der Weijden MCM, Nguyen V, Setthavongsack N, Garcia D, Krajbich V, Pham T, Woltjer R, George BP, Minks KQ, Paciorkowski AR, Hogarth P, Jankovic J, Hayflick SJ. Gregory A, et al. Among authors: paciorkowski ar. Mol Genet Genomic Med. 2019 Jul;7(7):e00736. doi: 10.1002/mgg3.736. Epub 2019 May 13. Mol Genet Genomic Med. 2019. PMID: 31087512 Free PMC article.
Expanding the neurodevelopmental phenotype of PURA syndrome.
Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR. Lee BH, et al. Among authors: paciorkowski ar. Am J Med Genet A. 2018 Jan;176(1):56-67. doi: 10.1002/ajmg.a.38521. Epub 2017 Nov 17. Am J Med Genet A. 2018. PMID: 29150892 Free PMC article.
73 results