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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. 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.
'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. Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28. Brain. 2013. PMID: 23449775
Cardio-Oncology Recommendations for Pediatric Oncology Patients: An Australian and New Zealand Delphi Consensus.
Toro C, Felmingham B, Jessop S, Celermajer DS, Kotecha RS, Govender D, Terese Hanna DM, O'Connor M, Manudhane R, Ayer J, O'Sullivan J, Sullivan M, Costello B, La Gerche A, Walwyn T, Horvath L, Mateos MK, Fulbright J, Jadhav M, Cheung M, Eisenstat D, Elliott DA, Conyers R. Toro C, et al. JACC Adv. 2022 Dec 30;1(5):100155. doi: 10.1016/j.jacadv.2022.100155. eCollection 2022 Dec. JACC Adv. 2022. PMID: 38939459 Free PMC article. Review.
Levetiracetam for the treatment of mild cognitive impairment in Parkinson's disease: a double-blind controlled proof-of-concept trial protocol.
Dissanayaka N, Pourzinal D, Byrne GJ, Yang J, McMahon KL, Pontone GM, O'Sullivan JD, Adam R, Littleford R, Chatfield M, Lehn A, Mari Z, Bakker A. Dissanayaka N, et al. Among authors: o sullivan jd. Pilot Feasibility Stud. 2023 Nov 22;9(1):189. doi: 10.1186/s40814-023-01406-y. Pilot Feasibility Stud. 2023. PMID: 37993889 Free PMC article.
124 results