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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS. Morgan AT, et al. Among authors: hildebrand ms. Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314. Brain. 2023. PMID: 37977818
Cochlear implants for DFNA17 deafness.
Hildebrand MS, de Silva MG, Gardner RJ, Rose E, de Graaf CA, Bahlo M, Dahl HH. Hildebrand MS, et al. Laryngoscope. 2006 Dec;116(12):2211-5. doi: 10.1097/01.mlg.0000242089.72880.f8. Laryngoscope. 2006. PMID: 17146397
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Hildebrand MS, et al. J Med Genet. 2013 May;50(5):271-9. doi: 10.1136/jmedgenet-2012-101448. Epub 2013 Mar 6. J Med Genet. 2013. PMID: 23468209 Review.
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium; Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM. Kasperaviciute D, et al. Among authors: hildebrand ms. Brain. 2013 Oct;136(Pt 10):3140-50. doi: 10.1093/brain/awt233. Epub 2013 Sep 6. Brain. 2013. PMID: 24014518 Free PMC article.
Does variation in NIPA2 contribute to genetic generalized epilepsy?
Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Hum Genet. 2014 May;133(5):673-4. doi: 10.1007/s00439-013-1414-0. Epub 2014 Jan 10. Hum Genet. 2014. PMID: 24408008 No abstract available.
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Damiano JA, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, Oliver KL, Dahl HH, Shearer AE, Smith RJ, Hall NE, Mahmood K, Leventer RJ, Scheffer IE, Muona M, Lehesjoki AE, Korczyn AD, Herrmann H, Berkovic SF, Hildebrand MS. Damiano JA, et al. Among authors: hildebrand ms. Hum Mol Genet. 2015 Aug 15;24(16):4483-90. doi: 10.1093/hmg/ddv171. Epub 2015 May 7. Hum Mol Genet. 2015. PMID: 25954030 Free PMC article.
157 results