Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Authors: Rice, Gillian I, Forte, Gabriella M A, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate E, Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L, del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M, Livingston, John H, Lourenco, Charles Marques, Marques, Wilson, Jr, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J, Temtamy, Samia A, Vassallo, Grace, Vilain, Catheline N, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P, Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, Crow, Yanick J

Source: In Lancet Neurology December 2013 12(12):1159-1169

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

Authors: Accogli, Andrea, Zaki, Maha S., Al-Owain, Mohammed, Otaif, Mansour Y., Jackson, Adam, Argilli, Emanuela, Chandler, Kate E., De Goede, Christian G. E. L., Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Mohajeri, Mahsa Sadat Asl, Ashtiani, Setareh, Au, P. Y. Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T., Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Mojarrad, Majid

Source: Brain Communications; 2023, Vol. 5 Issue 5, p1-9, 9p

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Urinary problems following acute transverse myelitis in children.

Authors: de Goede, Christian G E L

Source: Developmental Medicine & Child Neurology; Mar2002, Vol. 44 Issue 3, p212-213, 2p

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