Details
Role
Clinical Geneticist
Group
Clinical Services
Top Publications
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Richards, A, van den Maagdenberg, AMJM, Jen, JC, Kavanagh, D, Bertram, P, Spitzer, D, Liszewski, MK, Barilla-LaBarca, M-L, Terwindt, GM, Kasai, Y, et al.
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Nature Genetics
39(9)
:
1068 -1070
2007
view publication
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Duncan, RE, Gillam, L, Savulescu, J, Williamson, R, Rogers, JG, Delatycki, MB.
“Holding your breath”: Interviews with young people who have undergone predictive genetic testing for Huntington disease.
American Journal of Medical Genetics Part A
143A(17)
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1984 -1989
2007
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Babady, NE, Carelle, N, Wells, RD, Rouault, TA, Hirano, M, Lynch, DR, Delatycki, MB, Wilson, RB, Isaya, G, Puccio, H.
Advancements in the pathophysiology of Friedreich’s Ataxia and new prospects for treatments.
Molecular Genetics and Metabolism
92(1-2)
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23 -35
2007
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Wilson, CL, Fahey, MC, Corben, LA, Collins, VR, Churchyard, AJ, Lamont, PJ, Delatycki, MB.
Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?.
European Journal of Neurology
14(9)
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1040 -1047
2007
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Taylor, JM, Song, YJC, Huang, Y, Farrer, MJ, Delatycki, MB, Halliday, GM, Lockhart, PJ.
Parkin Co-regulated Gene (PACRG) is regulated by the ubiquitin–proteasomal system and is present in the pathological features of parkinsonian diseases.
Neurobiology of Disease
27(2)
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238 -247
2007
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