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Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM. Horga A, et al. Among authors: bremner f. Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31119193 Free PMC article.
Neurology and the histiocytoses: a case of Rosai-Dorfman-Destombes disease.
Carroll AS, Doherty CM, Blake J, Hunt SJ, Hoskote C, McNicholl F, Phadke R, Sheehy O, Bremner FD, D'Sa S, McNamara C, Reilly MM. Carroll AS, et al. Among authors: bremner fd. Pract Neurol. 2022 May 9:practneurol-2022-003398. doi: 10.1136/practneurol-2022-003398. Online ahead of print. Pract Neurol. 2022. PMID: 35534197
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Among authors: bremner f. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.
Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM. Stevens JC, et al. Among authors: bremner f. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6. doi: 10.1136/jnnp-2012-303634. Epub 2012 Nov 3. J Neurol Neurosurg Psychiatry. 2013. PMID: 23123642 No abstract available.
111 results