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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF. Boissé Lomax L, et al. Among authors: gandolfo lc. Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28. Brain. 2013. PMID: 23449775
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF. Corbett MA, et al. Among authors: gandolfo lc. Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549339 Free PMC article.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Lim SC, et al. Among authors: gandolfo lc. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462369 Free PMC article.
Discrete tissue microenvironments instruct diversity in resident memory T cell function and plasticity.
Christo SN, Evrard M, Park SL, Gandolfo LC, Burn TN, Fonseca R, Newman DM, Alexandre YO, Collins N, Zamudio NM, Souza-Fonseca-Guimaraes F, Pellicci DG, Chisanga D, Shi W, Bartholin L, Belz GT, Huntington ND, Lucas A, Lucas M, Mueller SN, Heath WR, Ginhoux F, Speed TP, Carbone FR, Kallies A, Mackay LK. Christo SN, et al. Among authors: gandolfo lc. Nat Immunol. 2021 Sep;22(9):1140-1151. doi: 10.1038/s41590-021-01004-1. Epub 2021 Aug 23. Nat Immunol. 2021. PMID: 34426691
Runx3 drives a CD8+ T cell tissue residency program that is absent in CD4+ T cells.
Fonseca R, Burn TN, Gandolfo LC, Devi S, Park SL, Obers A, Evrard M, Christo SN, Buquicchio FA, Lareau CA, McDonald KM, Sandford SK, Zamudio NM, Zanluqui NG, Zaid A, Speed TP, Satpathy AT, Mueller SN, Carbone FR, Mackay LK. Fonseca R, et al. Among authors: gandolfo lc. Nat Immunol. 2022 Aug;23(8):1236-1245. doi: 10.1038/s41590-022-01273-4. Epub 2022 Jul 26. Nat Immunol. 2022. PMID: 35882933
Removing unwanted variation from large-scale RNA sequencing data with PRPS.
Molania R, Foroutan M, Gagnon-Bartsch JA, Gandolfo LC, Jain A, Sinha A, Olshansky G, Dobrovic A, Papenfuss AT, Speed TP. Molania R, et al. Among authors: gandolfo lc. Nat Biotechnol. 2023 Jan;41(1):82-95. doi: 10.1038/s41587-022-01440-w. Epub 2022 Sep 15. Nat Biotechnol. 2023. PMID: 36109686 Free PMC article.
18 results