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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.
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.
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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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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Clinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelination.
Ramanathan S, Mohammad S, Tantsis E, Nguyen TK, Merheb V, Fung VSC, White OB, Broadley S, Lechner-Scott J, Vucic S, Henderson APD, Barnett MH, Reddel SW, Brilot F, Dale RC; Australasian and New Zealand MOG Study Group.
Ramanathan S, et al.
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.
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