Binaural speech processing in individuals with auditory neuropathy von Rance, G, Ryan, M.M, Carew, P, Corben, L.A, Yiu, E, Tan, J, Delatycki, M.B

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How is disease progress in Friedreich’s ataxia best measured? A study of four rating scales von Fahey, M C, Corben, L, Collins, V, Churchyard, A J, Delatycki, M B

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A functional MRI study of motor dysfunction in Friedreich's ataxia von Akhlaghi, H, Corben, L, Georgiou-Karistianis, N, Bradshaw, J, Delatycki, M.B, Storey, E, Egan, G.F

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Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia von Rance, G, Corben, L.A, Du Bourg, E, King, A, Delatycki, M.B

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Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2 von Catford, SR, O'Bryan, MK, McLachlan, RI, Delatycki, MB, Rombauts, L

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Decreased functional brain activation in Friedreich ataxia using the Simon effect task von Georgiou-Karistianis, N., Akhlaghi, H., Corben, L.A., Delatycki, M.B., Storey, E., Bradshaw, J.L., Egan, G.F.

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The Fitts task reveals impairments in planning and online control of movement in Friedreich ataxia: reduced cerebellar-cortico connectivity? von Corben, L.A, Georgiou-Karistianis, N, Bradshaw, J.L, Hocking, D.R, Churchyard, A.J, Delatycki, M.B

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Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools von Ioannou, L, Massie, J, Lewis, S, Petrou, V, Gason, A, Metcalfe, S, Aitken, MA, Bankier, A, Delatycki, MB

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Friedreich ataxia: an overview von Delatycki, Martin B, Williamson, Robert, Forrest, Susan M

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Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study von Fraser, J, Gason, A A, Wraith, J E, Delatycki, M B

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Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis von Delatycki, MB, Allen, KJ, Nisselle, AE, Collins, V, Metcalfe, S, du Sart, D, Halliday, J, Aitken, MA, Macciocca, I, Hill, V, Wakefield, A, Ritchie, A, Gason, AA, Nicoll, AJ, Powell, LW, Williamson, R

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Mutant torsinA interacts with tyrosine hydroxylase in cultured cells von O'Farrell, C.A, Martin, K.L, Hutton, M, Delatycki, M.B, Cookson, M.R, Lockhart, P.J

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Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task von Corben, L.A., Akhlaghi, H., Georgiou-Karistianis, N., Bradshaw, J.L., Egan, G.F., Storey, E., Churchyard, A.J., Delatycki, M.B.

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A comparison of three measures of upper limb function in Friedreich ataxia von Corben, L. A., Tai, G., Wilson, C., Collins, V., Churchyard, A. J., Delatycki, M. B.

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A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation von Huq, A.J., MBBS, FRACP, Pertile, M.D., PhD, Davis, A.M., MBBS, MD, Landon, H., BS, James, P.A., MbChB, FRACP, PhD, Kline, C.F., PhD, Vohra, J., MD, MBBS, FRACP, FRCP (UK), FACC, FCSANZ, Mohler, P.J., PhD, Delatycki, M.B., FRACP, PhD

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SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis von Hulsebos, TJM, Kenter, SB, Jakobs, ME, Baas, F, Chong, B, Delatycki, MB

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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene von Kennerson, Marina L, Yiu, Eppie M, Chuang, David T, Kidambi, Aditi, Tso, Shih-Chia, Ly, Carolyn, Chaudhry, Rabia, Drew, Alexander P, Rance, Gary, Delatycki, Martin B, Züchner, Stephan, Ryan, Monique M, Nicholson, Garth A

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Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome von White, S.M., Thompson, E.M., Kidd, A., Savarirayan, R., Turner, A., Amor, D., Delatycki, M.B., Fahey, M., Baxendale, A., White, S., Haan, E., Gibson, K., Halliday, J.L., Bankier, A.

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Newborn screening for mucopolysaccharidoses: opinions of patients and their families von Hayes, IM, Collins, V, Sahhar, M, Wraith, JE, Delatycki, MB

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To tell or not to tell - what to do about p.C282Y heterozygotes identified by HFE screening von Delatycki, MB, Wolthuizen, M, Aitken, MA, Hickerton, C, Metcalfe, SA, Allen, KJ

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