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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Van Bergen NJ, et al. Among authors: troedson c. Brain. 2020 Jan 1;143(1):112-130. doi: 10.1093/brain/awz374. Brain. 2020. PMID: 31794024 Free PMC article.
Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Misra S, Peters G, Barnes E, Ardern-Holmes S, Webster R, Troedson C, Mohammad SS, Gill D, Menezes M, Gupta S, Procopis P, Antony J, Kurian MA, Dale RC. Misra S, et al. Among authors: troedson c. Neurol Genet. 2019 Oct 23;5(6):e367. doi: 10.1212/NXG.0000000000000367. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872051 Free PMC article.
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids.
Yan J, Kothur K, Innes EA, Han VX, Jones HF, Patel S, Tsang E, Webster R, Gupta S, Troedson C, Menezes MP, Antony J, Ardern-Holmes S, Tantsis E, Mohammad S, Wienholt L, Pires AS, Heng B, Guillemin GJ, Guller A, Gill D, Bandodkar S, Dale RC. Yan J, et al. Among authors: troedson c. EBioMedicine. 2022 Oct;84:104280. doi: 10.1016/j.ebiom.2022.104280. Epub 2022 Sep 26. EBioMedicine. 2022. PMID: 36174397 Free PMC article.
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.
Yan J, Kothur K, Mohammad S, Chung J, Patel S, Jones HF, Keating BA, Han VX, Webster R, Ardern-Holmes S, Antony J, Menezes MP, Tantsis E, Gill D, Gupta S, Kandula T, Sampaio H, Farrar MA, Troedson C, Andrews PI, Pillai SC, Heng B, Guillemin GJ, Guller A, Bandodkar S, Dale RC. Yan J, et al. Among authors: troedson c. EBioMedicine. 2023 May;91:104589. doi: 10.1016/j.ebiom.2023.104589. Epub 2023 Apr 27. EBioMedicine. 2023. PMID: 37119734 Free PMC article.
Oral corticosteroid dosage and taper duration at onset in myelin oligodendrocyte glycoprotein antibody-associated disease influences time to first relapse.
Trewin BP, Dale RC, Qiu J, Chu M, Jeyakumar N, Dela Cruz F, Andersen J, Siriratnam P, Ma KKM, Hardy TA, van der Walt A, Lechner-Scott J, Butzkueven H, Broadley SA, Barnett MH, Reddel SW, Brilot F, Kalincik T, Ramanathan S; Australasian MOGAD Study Group. Trewin BP, et al. J Neurol Neurosurg Psychiatry. 2024 May 16:jnnp-2024-333463. doi: 10.1136/jnnp-2024-333463. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38744459 Free article.
Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome.
Pillai SC, Hacohen Y, Tantsis E, Prelog K, Merheb V, Kesson A, Barnes E, Gill D, Webster R, Menezes M, Ardern-Holmes S, Gupta S, Procopis P, Troedson C, Antony J, Ouvrier RA, Polfrit Y, Davies NW, Waters P, Lang B, Lim MJ, Brilot F, Vincent A, Dale RC. Pillai SC, et al. Among authors: troedson c. Pediatrics. 2015 Apr;135(4):e974-84. doi: 10.1542/peds.2014-2702. Pediatrics. 2015. PMID: 25802349
40 results