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Clinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelination.
J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):127-137. doi: 10.1136/jnnp-2017-316880. Epub 2017 Nov 15.
J Neurol Neurosurg Psychiatry. 2018.
PMID: 29142145
Free PMC article.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE, Bennett CA, Gill D, de Silva MG, Boggs K, Marum J, Baker N; Australian Genomics DEE Flagship; Palmer EE, Howell KB.
Scheffer IE, et al.
Dev Med Child Neurol. 2023 Jan;65(1):50-57. doi: 10.1111/dmcn.15308. Epub 2022 Jun 14.
Dev Med Child Neurol. 2023.
PMID: 35701389
Free PMC article.
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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH.
Ng BG, et al. Among authors: chelakkadan s.
J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5.
J Inherit Metab Dis. 2020.
PMID: 32681751
Free PMC article.
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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.
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