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117 results

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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman MLC, de Jong PTVM, de Smet MD, de Wolff-Rouendaal D, Dijkman G, Pelzer N, Kolar GR, Schmidt RE, Lacey J, Joseph D, Fintak DR, Grand MG, Brunt EM, Liapis H, Hajj-Ali RA, Kruit MC, van Buchem MA, Dichgans M, Frants RR, van den Maagdenberg AMJM, Haan J, Baloh RW, Atkinson JP, Terwindt GM, Ferrari MD. Stam AH, et al. Among authors: hardy ta. Brain. 2016 Nov 1;139(11):2909-2922. doi: 10.1093/brain/aww217. Brain. 2016. PMID: 27604306 Free PMC article.
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Among authors: hardy ta. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Forearm-predominant parainfectious myositis.
Triplett J, Rigney L, Hardy TA, Barnett Y, Hayes MW, Barnett M, Reddel SW. Triplett J, et al. Among authors: hardy ta. Muscle Nerve. 2019 Feb;59(2):E7-E10. doi: 10.1002/mus.26367. Epub 2018 Dec 21. Muscle Nerve. 2019. PMID: 30376690 No abstract available.
Baló's concentric sclerosis.
Hardy TA, Miller DH. Hardy TA, et al. Lancet Neurol. 2014 Jul;13(7):740-6. doi: 10.1016/S1474-4422(14)70052-3. Lancet Neurol. 2014. PMID: 24943346 Review.
Distinguishing Susac's syndrome from multiple sclerosis.
Buzzard KA, Reddel SW, Yiannikas C, Sean Riminton D, Barnett MH, Hardy TA. Buzzard KA, et al. Among authors: hardy ta. J Neurol. 2015 Jul;262(7):1613-21. doi: 10.1007/s00415-014-7628-9. Epub 2014 Dec 30. J Neurol. 2015. PMID: 25547511 Review.
Atypical inflammatory demyelinating syndromes of the CNS.
Hardy TA, Reddel SW, Barnett MH, Palace J, Lucchinetti CF, Weinshenker BG. Hardy TA, et al. Lancet Neurol. 2016 Aug;15(9):967-981. doi: 10.1016/S1474-4422(16)30043-6. Lancet Neurol. 2016. PMID: 27478954 Review.
117 results