Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 281

1.

Psychometric properties of the Friedreich Ataxia Rating Scale.

Rummey C, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Perlman S, Farmer JM, Lynch DR.

Neurol Genet. 2019 Oct 29;5(6):371. doi: 10.1212/NXG.0000000000000371. eCollection 2019 Dec.

2.

An Instrumented Measurement Scheme for the Assessment of Upper Limb Function in Individuals with Friedreich Ataxia.

Nguyen KD, Corben LA, Pathirana PN, Horne MK, Delatycki MB, Szmulewicz DJ.

Conf Proc IEEE Eng Med Biol Soc. 2019 Jul;2019:317-320. doi: 10.1109/EMBC.2019.8857107.

PMID:
31945905
3.

Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study.

Selvadurai LP, Corben LA, Delatycki MB, Storey E, Egan GF, Georgiou-Karistianis N, Harding IH.

Hum Brain Mapp. 2020 Jan 6. doi: 10.1002/hbm.24921. [Epub ahead of print]

PMID:
31904895
4.

Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.

Xiong E, Lynch AE, Corben LA, Delatycki MB, Subramony SH, Bushara K, Gomez CM, Hoyle JC, Yoon G, Ravina B, Mathews KD, Wilmot G, Zesiewicz T, Susan Perlman M, Farmer JM, Rummey C, Lynch DR.

J Neurol Sci. 2019 Dec 24;410:116642. doi: 10.1016/j.jns.2019.116642. [Epub ahead of print]

PMID:
31901720
5.

Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA.

Shishegar R, Harding IH, Corben LA, Delatycki MB, Storey E, Egan GF, Georgiou-Karistianis N.

Cerebellum. 2020 Jan 2. doi: 10.1007/s12311-019-01094-6. [Epub ahead of print]

PMID:
31898277
6.

Health professionals' practice for young people with, or at risk of, Li-Fraumeni syndrome: An Australasian survey.

Forbes Shepherd R, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE.

J Genet Couns. 2019 Dec 23. doi: 10.1002/jgc4.1199. [Epub ahead of print]

PMID:
31872506
7.

International perspectives on the implementation of reproductive carrier screening.

Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J.

Prenat Diagn. 2019 Nov 27. doi: 10.1002/pd.5611. [Epub ahead of print] Review.

PMID:
31774570
8.

Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity.

Peverill RE, Romanelli G, Donelan L, Hassam R, Corben LA, Delatycki MB.

PLoS One. 2019 Nov 13;14(11):e0225147. doi: 10.1371/journal.pone.0225147. eCollection 2019.

9.

Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8.

Richmond CM, Leventer R, Ryan MM, Delatycki MB.

Clin Genet. 2020 Mar;97(3):516-520. doi: 10.1111/cge.13666. Epub 2019 Nov 14.

PMID:
31693170
10.

The Guttmacher-Lancet Commission on sexual and reproductive health and rights: how does Australia measure up?

Massie RJ, Delatycki MB.

Med J Aust. 2019 Oct;211(8):381-381.e1. doi: 10.5694/mja2.50350. Epub 2019 Sep 27. No abstract available.

PMID:
31630406
11.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26.

12.

Changes detected in swallowing function in Friedreich ataxia over 12 months.

Keage M, Delatycki MB, Dyer J, Corben LA, Vogel AP.

Neuromuscul Disord. 2019 Oct;29(10):786-793. doi: 10.1016/j.nmd.2019.08.013. Epub 2019 Sep 6.

PMID:
31575456
13.

Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.

Bowman-Smart H, Savulescu J, Gyngell C, Mand C, Delatycki MB.

Prenat Diagn. 2019 Sep 9. doi: 10.1002/pd.5555. [Epub ahead of print] Review.

PMID:
31499588
14.

Friedreich ataxia- pathogenesis and implications for therapies.

Delatycki MB, Bidichandani SI.

Neurobiol Dis. 2019 Dec;132:104606. doi: 10.1016/j.nbd.2019.104606. Epub 2019 Sep 5. Review.

15.

Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences.

Tiller J, Morris S, Rice T, Barter K, Riaz M, Keogh L, Delatycki MB, Otlowski M, Lacaze P.

Eur J Hum Genet. 2020 Jan;28(1):137. doi: 10.1038/s41431-019-0475-5.

16.

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

Tan TY, Lunke S, Chong B, Phelan D, Fanjul-Fernandez M, Marum JE, Kumar VS, Stark Z, Yeung A, Brown NJ, Stutterd C, Delatycki MB, Sadedin S, Martyn M, Goranitis I, Thorne N, Gaff CL, White SM.

Eur J Hum Genet. 2019 Dec;27(12):1791-1799. doi: 10.1038/s41431-019-0471-9. Epub 2019 Jul 18.

PMID:
31320747
17.

Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

Quarrell OW, Delatycki MB, Clarke AJ, Lahiri N, Craufurd D, Miedzybrodzka Z, MacLeod R, Renwick P, Tomlinson C.

J Huntingtons Dis. 2019;8(3):357-359. doi: 10.3233/JHD-190360. No abstract available.

PMID:
31282428
18.

Genetic discrimination by Australian insurance companies: a survey of consumer experiences.

Tiller J, Morris S, Rice T, Barter K, Riaz M, Keogh L, Delatycki MB, Otlowski M, Lacaze P.

Eur J Hum Genet. 2020 Jan;28(1):108-113. doi: 10.1038/s41431-019-0426-1. Epub 2019 Jul 8. Erratum in: Eur J Hum Genet. 2019 Jul 29;:.

19.

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

Delatycki MB, Laing NG, Moore SJ, Emery J, Archibald AD, Massie J, Kirk EP.

Aust J Gen Pract. 2019 Mar;48(3):106-110. doi: 10.31128/AJGP-10-18-4725.

20.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ.

Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.

21.

Probing the multifactorial source of hand dysfunction in Friedreich ataxia.

Corben LA, Yiu EM, Tai G, Milne SC, Lynch B, Delatycki MB.

J Clin Neurosci. 2019 Jun;64:71-76. doi: 10.1016/j.jocn.2019.04.009. Epub 2019 Apr 22.

PMID:
31023572
22.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ.

Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.

23.

Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians.

McLaren CE, Chen WP, Bertalli NA, Delatycki MB, Giles GG, English DR, Hopper JL, Allen KJ, Gurrin LC.

PLoS One. 2019 Mar 26;14(3):e0214196. doi: 10.1371/journal.pone.0214196. eCollection 2019.

24.

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS.

Ann Clin Transl Neurol. 2019 Feb 17;6(3):515-524. doi: 10.1002/acn3.725. eCollection 2019 Mar. Erratum in: Ann Clin Transl Neurol. 2019 Apr 17;6(4):821.

25.

Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

Delatycki MB, Laing N, Kirk E.

Eur J Hum Genet. 2019 May;27(5):669-670. doi: 10.1038/s41431-019-0356-y. Epub 2019 Feb 13. No abstract available.

PMID:
30760884
26.

'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing.

Bowman-Smart H, Savulescu J, Mand C, Gyngell C, Pertile MD, Lewis S, Delatycki MB.

Aust N Z J Obstet Gynaecol. 2019 Oct;59(5):649-655. doi: 10.1111/ajo.12945. Epub 2019 Feb 6.

27.

Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.

Wallis MJ, Boys A, Tassano E, Delatycki MB.

Eur J Med Genet. 2020 Jan;63(1):103618. doi: 10.1016/j.ejmg.2019.01.008. Epub 2019 Jan 23.

PMID:
30684669
28.

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications.

Bowman-Smart H, Savulescu J, Mand C, Gyngell C, Pertile MD, Lewis S, Delatycki MB.

J Med Ethics. 2019 Apr;45(4):231-238. doi: 10.1136/medethics-2018-105167. Epub 2019 Jan 24.

29.

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.

Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, Snyder N, Boesch S, Chin M, Delatycki MB, Giunti P, Goldsberry A, Hoyle C, McBride MG, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot GR, Zesiewicz T, Meyer C.

Ann Clin Transl Neurol. 2018 Nov 10;6(1):15-26. doi: 10.1002/acn3.660. eCollection 2019 Jan.

30.

Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.

Catford SR, O'Bryan MK, McLachlan RI, Delatycki MB, Rombauts L.

Reprod Biomed Online. 2019 Jun;38(6):961-965. doi: 10.1016/j.rbmo.2018.12.042. Epub 2019 Jan 9.

PMID:
30642639
31.

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia.

Ward PGD, Harding IH, Close TG, Corben LA, Delatycki MB, Storey E, Georgiou-Karistianis N, Egan GF.

Mov Disord. 2019 Mar;34(3):335-343. doi: 10.1002/mds.27606. Epub 2019 Jan 9.

PMID:
30624809
32.

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia.

Peverill RE, Donelan L, Corben LA, Delatycki MB.

PLoS One. 2018 Dec 31;13(12):e0209410. doi: 10.1371/journal.pone.0209410. eCollection 2018.

33.

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.

Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M.

Am J Hum Genet. 2018 Dec 6;103(6):858-873. doi: 10.1016/j.ajhg.2018.10.015. Epub 2018 Nov 29.

34.

Young People Living at Risk of Huntington's Disease: The Lived Experience.

Lewit-Mendes MF, Lowe GC, Lewis S, Corben LA, Delatycki MB.

J Huntingtons Dis. 2018;7(4):391-402. doi: 10.3233/JHD-180308.

PMID:
30372686
35.

Presymptomatic testing of those at 25% risk of autosomal dominant neurodegenerative disease- testing team beware.

Delatycki MB.

Eur J Hum Genet. 2019 Jan;27(1):20-21. doi: 10.1038/s41431-018-0280-6. Epub 2018 Oct 5. No abstract available.

36.

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Hamedani AG, Hauser LA, Perlman S, Mathews K, Wilmot GR, Zesiewicz T, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Lynch DR.

Neurol Genet. 2018 Jul 23;4(4):e250. doi: 10.1212/NXG.0000000000000250. eCollection 2018 Aug.

37.

A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome?

Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE.

J Adolesc Young Adult Oncol. 2018 Oct;7(5):525-545. doi: 10.1089/jayao.2018.0028. Epub 2018 Jul 13.

PMID:
30004834
38.

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

Bahlo M, Bennett MF, Degorski P, Tankard RM, Delatycki MB, Lockhart PJ.

F1000Res. 2018 Jun 13;7. pii: F1000 Faculty Rev-736. doi: 10.12688/f1000research.13980.1. eCollection 2018. Review.

39.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG.

Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.

PMID:
29781137
40.

Ameliorating the age at onset and disease progression in Huntington disease.

Morrison PJ, Delatycki MB.

Neurology. 2018 Jun 12;90(24):1087-1088. doi: 10.1212/WNL.0000000000005670. Epub 2018 May 9. No abstract available.

PMID:
29743206
41.

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

Ejaz R, Chen S, Isaacs CJ, Carnevale A, Wilson J, George K, Delatycki MB, Perlman SL, Mathews KD, Wilmot GR, Hoyle JC, Subramony SH, Zesiewicz T, Farmer JM, Lynch DR, Yoon G.

J Child Neurol. 2018 May;33(6):397-404. doi: 10.1177/0883073818764941. Epub 2018 Apr 2.

PMID:
29607705
42.

Progress in the treatment of Friedreich ataxia.

Tai G, Corben LA, Yiu EM, Milne SC, Delatycki MB.

Neurol Neurochir Pol. 2018 Mar;52(2):129-139. doi: 10.1016/j.pjnns.2018.02.003. Epub 2018 Feb 19. Review.

PMID:
29499876
43.

Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Kumar VS, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ.

Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266.

PMID:
29388943
44.

Psychometric properties of outcome measures evaluating decline in gait in cerebellar ataxia: A systematic review.

Milne SC, Murphy A, Georgiou-Karistianis N, Yiu EM, Delatycki MB, Corben LA.

Gait Posture. 2018 Mar;61:149-162. doi: 10.1016/j.gaitpost.2017.12.031. Epub 2018 Jan 4. Review.

PMID:
29351857
45.

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, McDonald Z, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ.

Genet Med. 2018 Apr;20(5):513-523. doi: 10.1038/gim.2017.134. Epub 2017 Oct 26. Erratum in: Genet Med. 2018 Feb 01;:.

PMID:
29261177
46.

Fragile X population carrier screening.

Metcalfe SA, Delatycki MB, Cohen J, Archibald AD, Emery JD.

Genet Med. 2018 Sep;20(9):1091-1092. doi: 10.1038/gim.2017.209. No abstract available.

PMID:
29215647
47.

Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial.

Ong SY, Gurrin LC, Dolling L, Dixon J, Nicoll AJ, Wolthuizen M, Wood EM, Anderson GJ, Ramm GA, Allen KJ, Olynyk JK, Crawford D, Ramm LE, Gow P, Durrant S, Powell LW, Delatycki MB.

Lancet Haematol. 2017 Dec;4(12):e607-e614. doi: 10.1016/S2352-3026(17)30214-4.

PMID:
29195602
48.

The kids are OK: it is discrimination not same-sex parents that harms children.

Knight KW, Stephenson SE, West S, Delatycki MB, Jones CA, Little MH, Patton GC, Sawyer SM, Skinner SR, Telfer MM, Wake M, North KN, Oberklaid F.

Med J Aust. 2017 Nov 6;207(9):374-375. No abstract available.

PMID:
29092695
49.

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

Milne SC, Corben LA, Roberts M, Murphy A, Tai G, Georgiou-Karistianis N, Yiu EM, Delatycki MB.

Clin Rehabil. 2018 May;32(5):630-643. doi: 10.1177/0269215517736903. Epub 2017 Oct 26.

PMID:
29072092
50.

How does performance of the Friedreich Ataxia Functional Composite compare to rating scales?

Tai G, Yiu EM, Delatycki MB, Corben LA.

J Neurol. 2017 Aug;264(8):1768-1776. doi: 10.1007/s00415-017-8566-0. Epub 2017 Jul 10.

PMID:
28695363

Supplemental Content

Loading ...
Support Center