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Page 1
MNS1 variant associated with situs inversus and male infertility.
Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL. Leslie JS, et al. Among authors: jones hf. Eur J Hum Genet. 2020 Jan;28(1):50-55. doi: 10.1038/s41431-019-0489-z. Epub 2019 Sep 18. Eur J Hum Genet. 2020. PMID: 31534215 Free PMC article.
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, Kennedy J, Chioza BA, Ames RM, Cross HE, Puffenberger EG, Harries L, Baple EL, Crosby AH. Ammous Z, et al. PLoS Genet. 2021 Sep 27;17(9):e1009803. doi: 10.1371/journal.pgen.1009803. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34570759 Free PMC article.
International consensus definitions for infection-triggered encephalopathy syndromes.
Sakuma H, Thomas T, Debinski C, Eyre M, Han VX, Jones HF, Kawano G, Lee VW, Malone S, Matsuishi T, Mohammad SS, Mori T, Nishida H, Nosadini M, Takanashi JI, Mizuguchi M, Lim M, Dale RC. Sakuma H, et al. Among authors: jones hf. Dev Med Child Neurol. 2025 Feb;67(2):195-207. doi: 10.1111/dmcn.16067. Epub 2024 Aug 14. Dev Med Child Neurol. 2025. PMID: 39143740 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.
HLA and KIR genetic association and NK cells in anti-NMDAR encephalitis.
Peris Sempere V, Luo G, Muñiz-Castrillo S, Pinto AL, Picard G, Rogemond V, Titulaer MJ, Finke C, Leypoldt F, Kuhlenbäumer G; GENERATE study group; Jones HF, Dale RC, Binks S, Irani SR, Bastiaansen AE, de Vries JM, de Bruijn MAAM, Roelen DL, Kim TJ, Chu K, Lee ST, Kanbayashi T, Pollock NR, Kichula KM, Mumme-Monheit A, Honnorat J, Norman PJ, Mignot E. Peris Sempere V, et al. Among authors: jones hf. Front Immunol. 2024 Jul 10;15:1423149. doi: 10.3389/fimmu.2024.1423149. eCollection 2024. Front Immunol. 2024. PMID: 39050850 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 Oct 16;95(11):1054-1063. doi: 10.1136/jnnp-2024-333463. J Neurol Neurosurg Psychiatry. 2024. PMID: 38744459 Free PMC article.
69 results