Martin Delatycki

Professor

19992020

Research output per year

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Research Output

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A comparison of self-reported and record-linked blood donation history in an Australian cohort

Bertalli, N. A., Allen, K. J., McLaren, C. E., Turkovic, L., Osborne, N. J., Constantine, C. C., Delatycki, M. B., English, D. R., Giles, G. G., Hopper, J. L., Anderson, G. J., Olynyk, J. K., Powell, L. W. & Gurrin, L. C., Oct 2011, In : Transfusion. 51, 10, p. 2189-2198 10 p.

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)

A comparison of three measures of upper limb function in Friedreich ataxia

Corben, L. A., Tai, G., Wilson, C. L., Collins, V., Churchyard, A. J. & Delatycki, M. B., 2010, In : Emergency Medicine Journal. 257, 4, p. 518 - 523 6 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

A functional MRI study of motor dysfunction in Friedreich's ataxia

Akhlaghi, H., Corben, L. A., Georgiou-Karistianis, N., Bradshaw, J. L., Delatycki, M., Storey, E. & Egan, G. F., 2012, In : Brain Research. 1471, p. 138 - 154 17 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

A longitudinal study of the Friedreich Ataxia Impact Scale

Tai, G., Yiu, E. M., Corben, L. A. & Delatycki, M., 2015, In : Journal of the Neurological Sciences. 352, 1-2 (Art. No: 13703), p. 53 - 57 5 p.

Research output: Contribution to journalArticleResearchpeer-review

6 Citations (Scopus)

A longitudinal study of the SF-36 version 2 in Friedreich ataxia

Tai, G., Corben, L. A., Yiu, E. M. & Delatycki, M. B., 1 Jul 2017, In : Acta Neurologica Scandinavica. 136, 1, p. 41-46 6 p.

Research output: Contribution to journalArticleResearchpeer-review

4 Citations (Scopus)

Analysis of the visual system in Friedreich ataxia

Seyer, L. A., Galetta, K., Wilson, J., Sakai, R., Perlman, S. L., Mathews, K. D., Wilmot, G. R., Gomez, C. M., Ravina, B., Zesiewicz, T. A., Bushara, K. O., Subramony, S. H., Ashizawa, T., Delatycki, M. B., Brocht, A. F. D., Balcer, L. J. & Lynch, D. R., Sep 2013, In : Journal of Neurology. 260, 9, p. 2362-2369 8 p.

Research output: Contribution to journalArticleResearchpeer-review

26 Citations (Scopus)

An audit of clinical service examining the uptake of genetic testing by at-risk family members

Forrest, L. E., Delatycki, M., Curnow, L., Skene, L. & Aitken, M., Jan 2012, In : Genetics in Medicine. 14, 1, p. 122-128 7 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

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

Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S. C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Züchner, S., Ryan, M. M. & Nicholson, G. A., Apr 2013, In : Human Molecular Genetics. 22, 7, p. 1404-1416 13 p., dds557.

Research output: Contribution to journalArticleResearchpeer-review

41 Citations (Scopus)

Annexin A1 expression in a pooled breast cancer series: Association with tumor subtypes and prognosis

Sobral-Leite, M., Wesseling, J., Smit, V. T. H. B. M., Nevanlinna, H., van Miltenburg, M. H., Sanders, J., Hofland, I., Blows, F. M., Coulson, P., Patrycja, G., Schellens, J. H. M., Fagerholm, R., Heikkilä, P., Aittomäki, K., Blomqvist, C., Provenzano, E., Ali, H. R., Figueroa, J., Sherman, M., Lissowska, J. & 27 others, Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Phillips, K. A., kConFab/AOCS Investigators, Couch, F. J., Olson, J. E., Vachon, C., Visscher, D., Brenner, H., Butterbach, K., Arndt, V., Holleczek, B., Hooning, M. J., Hollestelle, A., Martens, J. W. M., van Deurzen, C. H. M., van de Water, B., Broeks, A., Chang-Claude, J., Chenevix-Trench, G., Easton, D. F., Pharoah, P. D. P., García-Closas, M., de Graauw, M. & Schmidt, M. K., 2 Jul 2015, In : BMC Medicine. 13, 1, 11 p., 156.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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29 Citations (Scopus)

An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels

Yiu, E. M., Tai, G., Peverill, R. E., Lee, K. J., Croft, K. D., Mori, T. A., Scheiber-Mojdehkar, B., Sturm, B., Praschberger, M., Vogel, A. P., Rance, G., Stephenson, S. E. M., Sarsero, J. P., Stockley, C., Lee, C-Y. J., Churchyard, A., Evans-Galea, M. V., Ryan, M. M., Lockhart, P. J., Corben, L. A. & 1 others, Delatycki, M. B., 7 Apr 2015, In : Journal of Neurology. 262, 5, p. 1344-1353 10 p.

Research output: Contribution to journalArticleResearchpeer-review

38 Citations (Scopus)

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

Constantine, C. C., Anderson, G. J., Vulpe, C. D., McLaren, C. E., Bahlo, M., Yeap, H. L., Gertig, D. M., Osborne, N. J., Bertalli, N. A., Beckman, K. B., Chen, V., Matak, P., McKie, A. T., Delatycki, M. B., Olynyk, J. K., English, D. R., Southey, M. C., Giles, G. G., Hopper, J. L., Allen, K. J. & 1 others, Gurrin, L. C., 1 Oct 2009, In : British Journal of Haematology. 147, 1, p. 140-149 10 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
47 Citations (Scopus)

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype

Evans-Galea, M., Corben, L., Hasell, J., Galea, C., Fahey, M., Du Sart, D. & Delatycki, M., 2011, In : Neurogenetics. 12, 4, p. 307 - 313 7 p.

Research output: Contribution to journalArticleResearchpeer-review

11 Citations (Scopus)

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation

Huq, A. J., Pertile, M. D., Davis, A. M., Landon, H., James, P. A., Kline, C. F., Vohra, J., Mohler, P. J. & Delatycki, M. B., 1 Jun 2017, In : Heart Lung and Circulation. 26, 6, p. 612-618 7 p.

Research output: Contribution to journalArticleOtherpeer-review

5 Citations (Scopus)

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia

Kelly, M., Bagnall, R., Peverill, R. E., Donelan, L., Corben, L., Delatycki, M. & Semsarian, C., 2011, In : Journal of Molecular and Cellular Cardiology. 51, 5, p. 848 - 854 7 p.

Research output: Contribution to journalArticleResearchpeer-review

31 Citations (Scopus)

Articulatory kinematics in the dysarthria associated with Friedreich's ataxia

Folker, J. E., Murdoch, B. E., Cahill, L. M., Rosen, K. M., Delatycki, M. B., Corben, L. A. & Vogel, A. P., 2011, In : Motor Control. 15, 3, p. 376-389 14 p.

Research output: Contribution to journalArticleResearchpeer-review

4 Citations (Scopus)

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

Tai, G., Corben, L. A., Gurrin, L. C., Yiu, E. M., Churchyard, A. J., Fahey, M. C., Hoare, B. J., Downie, S. N. & Delatycki, M., 2015, In : Journal of Neurology, Neurosurgery and Psychiatry. 86, 6, p. 660 - 666 7 p.

Research output: Contribution to journalArticleResearchpeer-review

13 Citations (Scopus)

Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening

Ioannou, L., Massie, J. A., Lewis, S., Collins, V. R., McClaren, B. & Delatycki, M., 2014, In : European Journal of Human Genetics. 22, 7, p. 859 - 865 7 p.

Research output: Contribution to journalArticleResearchpeer-review

1 Citation (Scopus)

Auditory perception in individuals with friedreich's ataxia

Rance, G., Corben, L., Barker, E., Carew, P., Chisari, D., Rogers, M., Dowell, R., Jamaluddin, S., Bryson, R. & Delatycki, M. B., May 2010, In : Audiology and Neuro-Otology. 15, 4, p. 229-240 12 p.

Research output: Contribution to journalArticleResearchpeer-review

33 Citations (Scopus)

Auditory processing deficits in children with Friedreich ataxia

Rance, G., Corben, L. & Delatycki, M., Sep 2012, In : Journal of Child Neurology. 27, 9, p. 1197-1203 7 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Automatic method of pause measurement for normal and dysarthric speech

Rosen, K., Murdoch, B., Folker, J. E., Vogel, A., Cahill, L. M., Delatycki, M. & Corben, L., Feb 2010, In : Clinical Linguistics and Phonetics. 24, 2, p. 141-154 14 p.

Research output: Contribution to journalArticleResearchpeer-review

26 Citations (Scopus)

Beyond loss of frataxin: The complex molecular pathology of friedreich ataxia

Evans-Galea, M. V., Lockhart, P. J., Galea, C., Hannan, A. J. & Delatycki, M., 2014, In : Discovery Medicine. 17, 91, p. 25 - 35 11 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Binaural speech processing in individuals with auditory neuropathy

Rance, G., Ryan, M. M., Carew, P. J., Corben, L. A., Yiu, E. M., Tan, J. & Delatycki, M. B., 13 Dec 2012, In : Neuroscience. 226, p. 227-235 9 p.

Research output: Contribution to journalArticleResearchpeer-review

19 Citations (Scopus)

"Both sides of the wheelchair": the views of individuals with, and parents of individuals with Friedreich Ataxia regarding pre-symptomatic testing of minors

Lowe, G. C., Corben, L. A., Duncan, R. E., Yoon, G. & Delatycki, M., 2015, In : Journal of Genetic Counseling. 24, 5, p. 732 - 743 12 p.

Research output: Contribution to journalArticleResearchpeer-review

3 Citations (Scopus)

Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?

Milne, S. C., Corben, L. A., Roberts, M., Murphy, A., Tai, G., Georgiou-Karistianis, N., Yiu, E. M. & Delatycki, M. B., 1 May 2018, In : Clinical Rehabilitation. 32, 5, p. 630-643 14 p.

Research output: Contribution to journalArticleResearchpeer-review

4 Citations (Scopus)

Cell and gene therapy for friedreich ataxia: progress to date

Evans-Galea, M. V., Pebay, A., Dottori, M., Corben, L. A., Ong, S. H., Lockhart, P. J. & Delatycki, M., 2014, In : Human Gene Therapy. 25, 8, p. 684 - 693 10 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Cerebello-cerebral connectivity deficits in Friedreich ataxia

Zalesky, A., Akhlaghi, H., Corben, L. A., Bradshaw, J. L., Delatycki, M., Storey, E., Georgiou-Karistianis, N. & Egan, G. F., 2014, In : Brain Structure and Function. 219, 3, p. 969 - 981 13 p.

Research output: Contribution to journalArticleResearchpeer-review

32 Citations (Scopus)

Cerebral and cerebellar grey matter atrophy in Friedreich ataxia: the IMAGE-FRDA study

Selvadurai, L. P., Harding, I. H., Corben, L. A., Stagnitti, M. R., Storey, E., Egan, G. F., Delatycki, M. B. & Georgiou-Karistianis, N., 1 Nov 2016, In : Journal of Neurology. 263, 11, p. 2215-2223 9 p.

Research output: Contribution to journalArticleResearchpeer-review

17 Citations (Scopus)

Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study

Harding, I. H., Corben, L. A., Delatycki, M. B., Stagnitti, M. R., Storey, E., Egan, G. F. & Georgiou-Karistianis, N., Aug 2017, In : Movement Disorders. 32, 8, p. 1221-1229 9 p.

Research output: Contribution to journalArticleResearchpeer-review

8 Citations (Scopus)

Characterization of the retinal pigment epithelium in Friedreich ataxia

Crombie, D. E., Van Bergen, N. J., Davidson, K. C., Anjomani-Virmouni, S., McKelvie, P. A., Chrysostomou, V., Conquest, A., Corben, L. A., Pook, M. A., Kulkarni, T., Trounce, I. A., Pera, M. F., Delatycki, M. & Pebay, A., 2015, In : Biochemistry and Biophysics Reports. 4, p. 141 - 147 7 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
File
3 Citations (Scopus)

Clinical and genetic study of Friedreich ataxia in an Australian population

Delatycki, M. B., Damien, B. B., Gardner, R. J., Nicholson, G. A., Nassif, N., Storey, E., Macmillan, J. C., Collins, V., Williamson, R. S. B. & Forrest, S. M., 1999, In : American Journal of Medical Genetics. p. 168 - 174 7 p.

Research output: Contribution to journalArticleResearchpeer-review

110 Citations (Scopus)

Clinical features of Friedreich ataxia

Delatycki, M. B. & Corben, L. A., Sep 2012, In : Journal of Child Neurology. 27, 9, p. 1133-1137 5 p.

Research output: Contribution to journalArticleResearchpeer-review

72 Citations (Scopus)

Cognitive deficits in Friedreich ataxia correlate with micro-structural changes in dentatorubral tract

Akhlaghi, H., Yu, J., Corben, L. A., Georgiou-Karistianis, N., Bradshaw, J. L., Storey, E., Delatycki, M. & Egan, G. F., 2014, In : Cerebellum. 13, 2, p. 187 - 198 12 p.

Research output: Contribution to journalArticleResearchpeer-review

27 Citations (Scopus)

Common data elements for clinical research in Friedreich's ataxia

Lynch, D. R., Pandolfo, M., Schulz, J. B., Perlman, S. L., Delatycki, M. B., Payne, R. M., Shaddy, R., Fischbeck, K. H., Farmer, J. M., Kantor, P., Raman, S. V., Hunegs, L., Odenkirchen, J., Miller, K. & Kaufmann, P., Feb 2013, In : Movement Disorders. 28, 2, p. 190-195 6 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia

Galea, C., Huq, A., Lockhart, P. J., Tai, G., Corben, L., Yiu, E. M., Gurrin, L. C., Lynch, D. R., Gelbard, S., Durr, A., Pousset, F., Parkinson, M., Labrum, R., Giunti, P., Perlman, S. L., Delatycki, M. & Evans-Galea, M. V., 2016, In : Annals of Neurology. 79, 3, p. 485-495 11 p.

Research output: Contribution to journalArticleResearchpeer-review

34 Citations (Scopus)

Cost-effectiveness of carrier screening for cystic fibrosis in Australia

Norman, R., van Gool, K., Hall, J., Delatycki, M. & Massie, J. A., Jul 2012, In : Journal of Cystic Fibrosis. 11, 4, p. 281-287 7 p.

Research output: Contribution to journalArticleResearchpeer-review

16 Citations (Scopus)

Current practice and attitudes of australian obstetricians toward population-based carrier screening for inherited conditions

Stark, Z., Massie, J. A., McClaren, B., Ioannou, L., Cousens, N. E., Lewis, S., Metcalfe, S. & Delatycki, M. B., Apr 2013, In : Twin Research and Human Genetics. 16, 2, p. 601-607 7 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

Decreased functional brain activation in Friedreich ataxia using the Simon effect task

Georgiou-Karistianis, N., Akhlaghi, H., Corben, L. A., Delatycki, M., Storey, E., Bradshaw, J. L. & Egan, G. F., 2012, In : Brain and Cognition. 79, 3, p. 200 - 208 9 p.

Research output: Contribution to journalArticleResearchpeer-review

22 Citations (Scopus)

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

Wilson, G. R., Wang, H. X., Egan, G. F., Robinson, P. J., Delatycki, M. B., O'Bryan, M. K. & Lockhart, P. J., 2010, In : Human Molecular Genetics. 19, 8 (Art. No. ddq031), p. 1593 - 1602 10 p.

Research output: Contribution to journalArticleResearchpeer-review

36 Citations (Scopus)

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

Bruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D., Delatycki, M., Gardner, R. J. M., Hunter, M., James, P. A., Kannu, P., McGillivray, G., Pachter, N., Peters, H., Rieubland, C., Savarirayan, R., Scheffer, I. E., Sheffield, L., Tan, T., White, S. M., Yeung, A. & 7 others, Bowman, Z., Ngo, C., Choy, K. W., Cacheux, V., Wong, L., Amor, D. J. & Slater, H. R., Feb 2009, In : Journal of Medical Genetics. 46, 2, p. 123-131 9 p.

Research output: Contribution to journalArticleResearchpeer-review

50 Citations (Scopus)

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

Holloway, T. P., Rowley, S. M., Delatycki, M. B. & Sarsero, J. P., Mar 2011, In : BioTechniques. 50, 3, p. 182-186 5 p.

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15

Ganesamoorthy, D., Bruno, D. L., Schoumans, J., Storey, E., Delatycki, M. B., Zhu, D., Wei, M., Nicholson, G. A., McKinley Gardner, R. J. & Slater, H., 2009, In : Clinical Chemistry. 55, 7, p. 1415 - 1418 4 p.

Research output: Contribution to journalArticleResearchpeer-review

27 Citations (Scopus)

"Did you find that out in time?": New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely

Hickerton, C. L., Aitken, M., Hodgson, J. & Delatycki, M. B., Feb 2012, In : American Journal of Medical Genetics Part A. 158 A, 2, p. 373-383 11 p.

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)

Differentiating impairment levels in temporal versus spatial aspects of linguopalatal contacts in Friedreich's ataxia

Folker, J. E., Murdoch, B. E., Cahill, L. M., Rosen, K., Delatycki, M. B., Corben, L. A. & Vogel, A., 2010, In : Motor Control. 14, 4, p. 490 - 508 19 p.

Research output: Contribution to journalArticleResearchpeer-review

5 Citations (Scopus)

Differentiating profiles of speech impairments in Friedreich's ataxia: A perceptual and instrumental approach

Folker, J. E., Murdoch, B. E., Rosen, K. M., Cahill, L. M., Delatycki, M. B., Corben, L. A. & Vogel, A. P., Jan 2012, In : International Journal of Language and Communication Disorders. 47, 1, p. 65-76 12 p.

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

Disruption to higher order processes in Friedreich ataxia

Fielding, J., Corben, L., Cremer, P., Millist, L., White, O. B. & Delatycki, M., 2010, In : Neuropsychologia. 48, 1, p. 235 - 242 8 p.

Research output: Contribution to journalArticleResearchpeer-review

31 Citations (Scopus)

Dysarthria in Friedreich's ataxia: A perceptual analysis

Folker, J. E., Murdoch, B., Cahill, L. M., Delatycki, M., Corben, L. & Vogel, A., Apr 2010, In : Folia Phoniatrica et Logopaedica. 62, 3, p. 97-103 7 p.

Research output: Contribution to journalArticleResearchpeer-review

39 Citations (Scopus)

Dysphagia in Friedreich Ataxia

Keage, M. J., Delatycki, M. B., Gupta, I., Corben, L. A. & Vogel, A. P., 4 Oct 2017, In : Dysphagia. 32, 5, p. 626-635 10 p.

Research output: Contribution to journalArticleResearchpeer-review

9 Citations (Scopus)

Ethical dilemmas associated with genetic testing: Which are most commonly seen and how are they managed?

McLean, N., Delatycki, M. B., Macciocca, I. & Duncan, R. E., May 2013, In : Genetics in Medicine. 15, 5, p. 345-353 9 p.

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools

Ioannou, L., Massie, J., Lewis, S., Petrou, V., Gason, A., Metcalfe, S., Aitken, M., Bankier, A. & Delatycki, M., 2010, In : Clinical Genetics. 78, 1, p. 21 - 31 11 p.

Research output: Contribution to journalArticleResearchpeer-review

29 Citations (Scopus)