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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Zilmer M, et al. Among authors: madsen cg. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Kojic M, Gawda T, Gaik M, Begg A, Salerno-Kochan A, Kurniawan ND, Jones A, Drożdżyk K, Kościelniak A, Chramiec-Głąbik A, Hediyeh-Zadeh S, Kasherman M, Shim WJ, Sinniah E, Genovesi LA, Abrahamsen RK, Fenger CD, Madsen CG, Cohen JS, Fatemi A, Stark Z, Lunke S, Lee J, Hansen JK, Boxill MF, Keren B, Marey I, Saenz MS, Brown K, Alexander SA, Mureev S, Batzilla A, Davis MJ, Piper M, Bodén M, Burne THJ, Palpant NJ, Møller RS, Glatt S, Wainwright BJ. Kojic M, et al. Among authors: madsen cg. Nat Commun. 2021 May 11;12(1):2678. doi: 10.1038/s41467-021-22888-5. Nat Commun. 2021. PMID: 33976153 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 35234644
Filadelfia, Danish Epilepsy Center, Dianalund, Denmark.
Hjalgrim H, Nederland A, Madsen C, Birk S, Madsen SR, Olofsson K, Brandt CE, Beniczky S, Rasmussen JB, Boserup L, Lyngsø LS, Vilhelmsen LL, Sand E, Kjær G, Nielsen KP, Olsen JT, Møller RS, Jeppesen JOS. Hjalgrim H, et al. Epilepsy Behav. 2017 Nov;76S:S4-S8. doi: 10.1016/j.yebeh.2017.07.020. Epub 2017 Sep 1. Epilepsy Behav. 2017. PMID: 28867575 No abstract available.
Migraine with visual aura associated with thicker visual cortex.
Gaist D, Hougaard A, Garde E, Reislev NL, Wiwie R, Iversen P, Madsen CG, Blaabjerg M, Nielsen HH, Krøigård T, Østergaard K, Kyvik KO, Hjelmborg J, Madsen K, Siebner HR, Ashina M. Gaist D, et al. Among authors: madsen k, madsen cg. Brain. 2018 Mar 1;141(3):776-785. doi: 10.1093/brain/awx382. Brain. 2018. PMID: 29360944
37 results