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Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, Zyskind J, Popp B, Strehlow V. Roessler F, et al. Among authors: delanty n. Am J Med Genet A. 2023 Feb;191(2):469-478. doi: 10.1002/ajmg.a.63044. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36426740 Review.
Germline mosaicism in a family with MBD5 haploinsufficiency.
Bhatia M, Cavalleri GL, White M, Delanty N, Sweeney BJ, Costello DJ, Greally MT, Benson KA. Bhatia M, et al. Among authors: delanty n. Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006253. doi: 10.1101/mcs.a006253. Print 2022 Dec. Cold Spring Harb Mol Case Stud. 2022. PMID: 36396431 Free PMC article.
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: delanty n. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
Erratum to ' Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission' [Seizure Volume 106, March 2023, Pages 68-75].
Aledo-Serrano A, Battaglia G, Blenkinsop S, Delanty N, Elbendary HM, Eyal S, Guekht A, Gulcebi MI, Henshall DC, Hildebrand MS, Macrohon B, Madaan P, Mifsud J, Mills JD, Neill KH, Romagnolo A, Vezzani A, Sisodiya SM. Aledo-Serrano A, et al. Among authors: delanty n. Seizure. 2023 Oct;111:164. doi: 10.1016/j.seizure.2023.08.013. Epub 2023 Aug 26. Seizure. 2023. PMID: 37639957 No abstract available.
Folic acid in women with epilepsy: prescribing advice.
Kinney MO, Craig JJ, Delanty N. Kinney MO, et al. Among authors: delanty n. Pract Neurol. 2024 Mar 25:pn-2023-003829. doi: 10.1136/pn-2023-003829. Online ahead of print. Pract Neurol. 2024. PMID: 38527794 No abstract available.
A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.
Chen J, Ngo A, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Alvim MKM, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp B, Domin M, von Podewils F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Sinclair B, Vivash L, Kwan P, Desmond PM, Lui E, Duma GM, Bonanni P, Ballerini A, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Rüber T, Bauer T, Weber B, Caldairou B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Pardoe H, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Arienzo D, Vos SB, Ryten M, Taylor PN, Duncan JS, Whelan CD, Galovic M, Winston GP, Thomopoulos SI, Thompson PM, Sisodiya SM, Labate A, McDonald CR, Caciagli L, Bernasconi N, Bernasconi A, Larivière S, Schrader D, Bernhardt BC. Chen J, et al. Among authors: delanty n. bioRxiv [Preprint]. 2024 Mar 6:2024.03.02.583073. doi: 10.1101/2024.03.02.583073. bioRxiv. 2024. PMID: 38496668 Free PMC article. Preprint.
282 results