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Page 1
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.
Balaji L, Forbes R, Cairns A, Sampaio H, Kornberg AJ, Sanders L, Lamont P, Liang C, Jones KJ, Nowak K, O'Gorman C, Woodcock I, Briggs N, Yiu EM, Farrar MA, Kariyawasam D. Balaji L, et al. Among authors: kornberg aj. Lancet Reg Health West Pac. 2024 Nov 6;53:101237. doi: 10.1016/j.lanwpc.2024.101237. eCollection 2024 Dec. Lancet Reg Health West Pac. 2024. PMID: 39559164 Free PMC article.
Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination.
Tea F, Lopez JA, Ramanathan S, Merheb V, Lee FXZ, Zou A, Pilli D, Patrick E, van der Walt A, Monif M, Tantsis EM, Yiu EM, Vucic S, Henderson APD, Fok A, Fraser CL, Lechner-Scott J, Reddel SW, Broadley S, Barnett MH, Brown DA, Lunemann JD, Dale RC, Brilot F; Australasian and New Zealand MOG Study Group. Tea F, et al. Acta Neuropathol Commun. 2019 Sep 3;7(1):145. doi: 10.1186/s40478-019-0786-3. Acta Neuropathol Commun. 2019. PMID: 31481127 Free PMC article.
The clinical relevance of MOG antibody testing in cerebrospinal fluid.
Reynolds M, Tan I, Nguyen K, Merheb V, Lee FXZ, Trewin BP, Lerch M, Shah S, Wolfe N, Buzzard K, Lechner-Scott J, Fabis-Pedrini M, Fok A, John N, Kneebone C, Yiannikas C, Brown DA, Kermode AG, Reddel S, Dale RC, Brilot F, Ramanathan S; Australasian MOGAD Study Group. Reynolds M, et al. Ann Clin Transl Neurol. 2024 Sep;11(9):2514-2519. doi: 10.1002/acn3.52163. Epub 2024 Jul 28. Ann Clin Transl Neurol. 2024. PMID: 39073255 Free PMC article.
Spinal Muscular Atrophies: An Ongoing Diagnostic Dilemma?
Biros I I, Forshaw K, Sheffield LJ, Kornberg AJ, Forrest S. Biros I I, et al. Among authors: kornberg aj. Mol Diagn. 1997 Dec;2(4):241-249. doi: 10.1054/MODI00200241. Mol Diagn. 1997. PMID: 10462616
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 Oct 16;95(11):1054-1063. doi: 10.1136/jnnp-2024-333463. J Neurol Neurosurg Psychiatry. 2024. PMID: 38744459 Free PMC article.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: kornberg aj. Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27. Ann Clin Transl Neurol. 2024. PMID: 38544359 Free PMC article.
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Folland C, Ganesh V, Weisburd B, McLean C, Kornberg AJ, O'Donnell-Luria A, Rehm HL, Stevanovski I, Chintalaphani SR, Kennedy P, Deveson IW, Ravenscroft G. Folland C, et al. Among authors: kornberg aj. Neurol Genet. 2023 Mar 14;9(2):e200064. doi: 10.1212/NXG.0000000000200064. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090938 Free PMC article.
114 results