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Page 1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsy.
McNicholas OC, Jiménez-Jiménez D, Oliveira JFA, Ferguson L, Bellampalli R, McLaughlin C, Chowdhury FA, Martins Custodio H, Moloney P, Mavrogianni A, Diehl B, Sisodiya SM. McNicholas OC, et al. Among authors: moloney p. Brain Commun. 2024 Sep 10;6(5):fcae269. doi: 10.1093/braincomms/fcae269. eCollection 2024. Brain Commun. 2024. PMID: 39258258 Free PMC article.
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P, Moloney PB, Ji C, Zulfiqar Ali Q, Ramesh A, Goldstein DB, Barboza K, Chandran I, Rong M, Selvarajah A, Qaiser F, Lira VST, Valiante TA, Bazil CW, Choi H, Devinsky O, Depondt C, O'Brien T, Perucca P, Sen A, Dugan P, Sands TT, Delanty N, Andrade DM. Marques P, et al. Among authors: moloney pb. Epilepsy Res. 2024 Oct;206:107425. doi: 10.1016/j.eplepsyres.2024.107425. Epub 2024 Aug 6. Epilepsy Res. 2024. PMID: 39168079
Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.
Vasseghi M, Behan C, Connolly A, Cunningham D, Dempsey E, Flynn C, Galvin M, Griffin G, Moloney P, Murphy M, Owen Y, O'Malley S, O'Rourke G, O'Sullivan O, Doherty CP. Vasseghi M, et al. Among authors: moloney p. J Rare Dis (Berlin). 2024;3(1):24. doi: 10.1007/s44162-024-00049-8. Epub 2024 Aug 19. J Rare Dis (Berlin). 2024. PMID: 39165678 Free PMC article.
Lamotrigine vs levetiracetam in female patients of childbearing age with juvenile absence epilepsy: A Bayesian reanalysis.
Cerulli Irelli E, Cocchi E, Gesche J, Peña-Ceballos J, Caraballo RH, Lattanzi S, Strigaro G, Orlando B, Moloney PB, Catania C, Ferlazzo E, Pascarella A, Casciato S, Pizzanelli C, Milano C, Giuliano L, Viola V, Mostacci B, Fortunato F, Pulitano P, Rosati E, Perulli M, Delanty N, Di Gennaro G, Gambardella A, Labate A, Operto FF, Giallonardo AT, Baykan B, Beier CP; Women with Epilepsy Treatment Options and Research (WETOR) study group; Di Bonaventura C. Cerulli Irelli E, et al. Among authors: moloney pb. Epilepsia. 2024 Oct;65(10):2897-2908. doi: 10.1111/epi.18087. Epub 2024 Aug 10. Epilepsia. 2024. PMID: 39126356
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
Danti FR, Sarmiento IJK, Moloney PB, Colangelo I, Graziola F, Garavaglia B, Zorzi G, Mencacci NE, Lubbe SJ. Danti FR, et al. Among authors: moloney pb. Mov Disord. 2024 Apr;39(4):747-749. doi: 10.1002/mds.29732. Epub 2024 Feb 21. Mov Disord. 2024. PMID: 38380600 No abstract available.
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Among authors: moloney p. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
Vagus nerve stimulation in refractory idiopathic generalised epilepsy: An Irish retrospective observational study.
Peña-Ceballos J, Moloney PB, Valentin A, O'Donnell C, Colleran N, Liggan B, Staunton-Grufferty B, Ennis P, Grogan R, Mullins G, Costello DJ, Doherty CP, Sweeney KJ, El Naggar H, Kilbride RD, Widdess-Walsh P, O'Brien D, Delanty N. Peña-Ceballos J, et al. Among authors: moloney pb. Seizure. 2023 Nov;112:98-105. doi: 10.1016/j.seizure.2023.09.019. Epub 2023 Sep 26. Seizure. 2023. PMID: 37778300 Free article.
100 results