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32 results

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Page 1
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, van Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER. Lee S, et al. Among authors: menzies l. Hum Mol Genet. 2023 Nov 3;32(22):3123-3134. doi: 10.1093/hmg/ddad079. Hum Mol Genet. 2023. PMID: 37166351 Free PMC article. Review.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: menzies l. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056. Brain. 2024. PMID: 38456468 Free PMC article.
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?
Eriksson MH, Prentice F, Piper RJ, Wagstyl K, Adler S, Chari A, Booth J, Moeller F, Das K, Eltze C, Cooray G, Perez Caballero A, Menzies L, McTague A, Shavel-Jessop S, Tisdall MM, Cross JH, Martin Sanfilippo P, Baldeweg T. Eriksson MH, et al. Among authors: menzies l. Brain. 2024 Aug 1;147(8):2791-2802. doi: 10.1093/brain/awae121. Brain. 2024. PMID: 38643018 Free PMC article.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: menzies l. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data?
Eriksson MH, Ripart M, Piper RJ, Moeller F, Das KB, Eltze C, Cooray G, Booth J, Whitaker KJ, Chari A, Martin Sanfilippo P, Perez Caballero A, Menzies L, McTague A, Tisdall MM, Cross JH, Baldeweg T, Adler S, Wagstyl K. Eriksson MH, et al. Among authors: menzies l. Epilepsia. 2023 Aug;64(8):2014-2026. doi: 10.1111/epi.17637. Epub 2023 Jun 16. Epilepsia. 2023. PMID: 37129087 Free PMC article.
32 results