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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.


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 Jul 13. doi: 10.1089/jayao.2018.0028. [Epub ahead of print]


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.


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.


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.


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.


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.


CORRIGENDUM: 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 Feb 1. doi: 10.1038/gim.2017.266. [Epub ahead of print]


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.


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, 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;:.


Fragile X population carrier screening.

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

Genet Med. 2017 Dec 7. doi: 10.1038/gim.2017.209. [Epub ahead of print] No abstract available.


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.


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.


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.


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.


Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.

Metcalfe SA, Martyn M, Ames A, Anderson V, Archibald AD, Couns GDG, Carter R, Cohen J, Cotter M, GenCouns M, Dang W, Delatycki MB, Donath S, Edwards S, Educ PD, Couns GDG, Forbes R, Couns GDG, Gavrila M, MedSci M, Halliday J, Hickerton C, Hill M, Couns GDG, Jacobs L, Ultrasound PD, Petrou V, Couns GDG, Plunkett L, GenCouns M, Sheffield L, Racp F, Thornton A, Couns GDG, Younie S, Econ PDH, Emery JD.

Genet Med. 2017 Dec;19(12):1346-1355. doi: 10.1038/gim.2017.67. Epub 2017 Jun 29.


Rehabilitation for Individuals With Genetic Degenerative Ataxia: A Systematic Review.

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

Neurorehabil Neural Repair. 2017 Jul;31(7):609-622. doi: 10.1177/1545968317712469. Epub 2017 Jun 9. Review.


Friedreich's ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency.

Crombie DE, Curl CL, Raaijmakers AJ, Sivakumaran P, Kulkarni T, Wong RC, Minami I, Evans-Galea MV, Lim SY, Delbridge L, Corben LA, Dottori M, Nakatsuji N, Trounce IA, Hewitt AW, Delatycki MB, Pera MF, Pébay A.

Aging (Albany NY). 2017 May 30;9(5):1440-1452. doi: 10.18632/aging.101247.


Friedreich Ataxia.

Bidichandani SI, Delatycki MB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1998 Dec 18 [updated 2017 Jun 1].


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

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

Mov Disord. 2017 Aug;32(8):1221-1229. doi: 10.1002/mds.27023. Epub 2017 May 27.


Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G.

Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.


Dysphagia in Friedreich Ataxia.

Keage MJ, Delatycki MB, Gupta I, Corben LA, Vogel AP.

Dysphagia. 2017 Oct;32(5):626-635. doi: 10.1007/s00455-017-9804-4. Epub 2017 May 4.


Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.


Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia.

Corben LA, Klopper F, Stagnitti M, Georgiou-Karistianis N, Bradshaw JL, Rance G, Delatycki MB.

Cerebellum. 2017 Aug;16(4):757-763. doi: 10.1007/s12311-017-0848-7.


Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.


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

Huq AJ, Pertile MD, Davis AM, Landon H, James PA, Kline CF, Vohra J, Mohler PJ, Delatycki MB.

Heart Lung Circ. 2017 Jun;26(6):612-618. doi: 10.1016/j.hlc.2016.09.013. Epub 2016 Nov 16.


Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

Amor DJ, Marsh AP, Storey E, Tankard R, Gillies G, Delatycki MB, Pope K, Bromhead C, Leventer RJ, Bahlo M, Lockhart PJ.

Neurol Genet. 2016 Oct 18;2(6):e114. eCollection 2016 Dec.


HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.

Warne CD, Zaloumis SG, Bertalli NA, Delatycki MB, Nicoll AJ, McLaren CE, Hopper JL, Giles GG, Anderson GJ, Olynyk JK, Powell LW, Allen KJ, Gurrin LC; HealthIron Study Investigators.

J Gastroenterol Hepatol. 2017 Apr;32(4):797-802. doi: 10.1111/jgh.13621.


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

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

Acta Neurol Scand. 2017 Jul;136(1):41-46. doi: 10.1111/ane.12693. Epub 2016 Sep 28.


Progression of Friedreich ataxia: quantitative characterization over 5 years.

Patel M, Isaacs CJ, Seyer L, Brigatti K, Gelbard S, Strawser C, Foerster D, Shinnick J, Schadt K, Yiu EM, Delatycki MB, Perlman S, Wilmot GR, Zesiewicz T, Mathews K, Gomez CM, Yoon G, Subramony SH, Brocht A, Farmer J, Lynch DR.

Ann Clin Transl Neurol. 2016 Jul 25;3(9):684-94. doi: 10.1002/acn3.332. eCollection 2016 Sep.


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

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

J Neurol. 2016 Nov;263(11):2215-2223. Epub 2016 Aug 13.


Voice in Friedreich Ataxia.

Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, Awan SN.

J Voice. 2017 Mar;31(2):243.e9-243.e19. doi: 10.1016/j.jvoice.2016.04.015. Epub 2016 Aug 5.


How should hyperferritinaemia be investigated and managed?

Ong SY, Nicoll AJ, Delatycki MB.

Eur J Intern Med. 2016 Sep;33:21-7. doi: 10.1016/j.ejim.2016.05.014. Epub 2016 Jun 23. Review.


Huntington disease: More common than you think?

Delatycki MB, Bandmann O.

Neurology. 2016 Jul 19;87(3):247-8. doi: 10.1212/WNL.0000000000002874. Epub 2016 Jun 22. No abstract available.


Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

Stark Z, Wallace J, Gillam L, Burgess M, Delatycki MB.

J Med Ethics. 2016 Oct;42(10):640-2. doi: 10.1136/medethics-2016-103400. Epub 2016 Jun 8.


Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

Shinnick JE, Schadt K, Strawser C, Wilcox N, Perlman SL, Wilmot GR, Gomez CM, Mathews KD, Yoon G, Zesiewicz T, Hoyle C, Subramony SH, Yiu EM, Delatycki MB, Brocht AF, Farmer JM, Lynch DR.

J Child Neurol. 2016 Aug;31(9):1161-5. doi: 10.1177/0883073816643408. Epub 2016 Apr 12.


Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ.

Neurol Genet. 2015 Jul 16;1(2):e16. doi: 10.1212/NXG.0000000000000014. eCollection 2015 Aug.


Gastrocnemius and soleus spasticity and muscle length in Friedreich's ataxia.

Milne SC, Corben LA, Yiu E, Delatycki MB, Georgiou-Karistianis N.

J Clin Neurosci. 2016 Jul;29:29-34. doi: 10.1016/j.jocn.2016.01.011. Epub 2016 Mar 25.


Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy.

Crombie DE, Pera MF, Delatycki MB, Pébay A.

Int J Cardiol. 2016 Jun 1;212:37-43. doi: 10.1016/j.ijcard.2016.03.040. Epub 2016 Mar 21. Review.


Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study.

Harding IH, Raniga P, Delatycki MB, Stagnitti MR, Corben LA, Storey E, Georgiou-Karistianis N, Egan GF.

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1261-1263. doi: 10.1136/jnnp-2015-312665. Epub 2016 Mar 24. No abstract available.


Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV.

Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595.


Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study.

Harding IH, Corben LA, Storey E, Egan GF, Stagnitti MR, Poudel GR, Delatycki MB, Georgiou-Karistianis N.

Hum Brain Mapp. 2016 Jan;37(1):338-50. doi: 10.1002/hbm.23034. Epub 2015 Oct 27.


"I'm scared of being like mum": The Experience of Adolescents Living in Families with Huntington Disease.

Mand CM, Gillam L, Duncan RE, Delatycki MB.

J Huntingtons Dis. 2015;4(3):209-17. doi: 10.3233/JHD-150148.


Characterization of the retinal pigment epithelium in Friedreich ataxia.

Crombie DE, Van Bergen N, Davidson KC, Anjomani Virmouni S, Mckelvie PA, Chrysostomou V, Conquest A, Corben LA, Pook MA, Kulkarni T, Trounce IA, Pera MF, Delatycki MB, Pébay A.

Biochem Biophys Rep. 2015 Sep 11;4:141-147. doi: 10.1016/j.bbrep.2015.09.003. eCollection 2015 Dec.


Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ.

Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12.


Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Thompson ER, Gorringe KL, Rowley SM, Wong-Brown MW, McInerny S, Li N, Trainer AH, Devereux L, Doyle MA, Li J, Lupat R, Delatycki MB; LifePool Investigators, Mitchell G, James PA, Scott RJ, Campbell IG.

Breast Cancer Res. 2015 Aug 19;17:111. doi: 10.1186/s13058-015-0627-7.


Should HFE p.C282Y homozygotes with moderately elevated serum ferritin be treated? A randomised controlled trial comparing iron reduction with sham treatment (Mi-iron).

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

BMJ Open. 2015 Aug 12;5(8):e008938. doi: 10.1136/bmjopen-2015-008938.


Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication.

Hodgson J, Metcalfe S, Gaff C, Donath S, Delatycki MB, Winship I, Skene L, Aitken M, Halliday J.

Eur J Hum Genet. 2016 Mar;24(3):356-60. doi: 10.1038/ejhg.2015.122. Epub 2015 Jul 1.


Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ.

Ann Clin Transl Neurol. 2015 May;2(5):575-80. doi: 10.1002/acn3.191. Epub 2015 Mar 12.

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