Martin B Delatycki

Martin B Delatycki

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Martin B Delatycki

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Friedreich ataxia- pathogenesis and implications for therapies.

Neurobiol Dis 2019 Dec 5;132:104606. Epub 2019 Sep 5.

Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Oklahoma Center for Neuroscience, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.

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http://dx.doi.org/10.1016/j.nbd.2019.104606DOI Listing
December 2019

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

Clin Genet 2019 Nov 6. Epub 2019 Nov 6.

Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/cge.13666DOI Listing
November 2019

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

J Huntingtons Dis 2018 ;7(4):391-402

Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

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http://dx.doi.org/10.3233/JHD-180308DOI Listing
October 2019

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

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

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ajo.12945DOI Listing
October 2019

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

Neuromuscul Disord 2019 Oct 6;29(10):786-793. Epub 2019 Sep 6.

Centre for Neuroscience of Speech, The University of Melbourne, Victoria, Australia; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; Redenlab, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.013DOI Listing
October 2019

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

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

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

Med J Aust 2019 Oct 27;211(8):381-381.e1. Epub 2019 Sep 27.

Victorian Clinical Genetics Services, Melbourne, VIC.

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http://dx.doi.org/10.5694/mja2.50350DOI Listing
October 2019

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

Prenat Diagn 2019 Sep 9. Epub 2019 Sep 9.

Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/pd.5555DOI Listing
September 2019

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

Eur J Hum Genet 2019 Jul 8. Epub 2019 Jul 8.

Public Health Genomics, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41431-019-0426-1DOI Listing
July 2019

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

Eur J Hum Genet 2019 Jul 29. Epub 2019 Jul 29.

Public Health Genomics, School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41431-019-0475-5DOI Listing
July 2019

Probing the multifactorial source of hand dysfunction in Friedreich ataxia.

J Clin Neurosci 2019 Jun 22;64:71-76. Epub 2019 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Wellington Road, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Royal Parade, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.jocn.2019.04.009DOI Listing
June 2019

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

PLoS One 2018 31;13(12):e0209410. Epub 2018 Dec 31.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209410PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312254PMC
May 2019

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

Eur J Hum Genet 2019 May 13;27(5):669-670. Epub 2019 Feb 13.

Sydney Children's Hospital, Randwick, NSW, Australia.

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http://dx.doi.org/10.1038/s41431-019-0356-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6461974PMC
May 2019

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

Mov Disord 2019 03 9;34(3):335-343. Epub 2019 Jan 9.

Monash Biomedical Imaging, Monash University, Melbourne, Australia.

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http://dx.doi.org/10.1002/mds.27606DOI Listing
March 2019

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

Aust J Gen Pract 2019 03;48(3):106-110

PhD, FRACP, FRCPA, Clinical Geneticist, Centre for Clinical Genetics, Sydney Children@s Hospital, Randwick, NSW; Genetic Pathologist, NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW; Conjoint Professor, School of Women@s and Children@s Health, University of New South Wales, Randwick, NSW.

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http://dx.doi.org/10.31128/AJGP-10-18-4725DOI Listing
March 2019

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

Eur J Hum Genet 2019 01 5;27(1):20-21. Epub 2018 Oct 5.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Parkville, 3052, Victoria, Australia.

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http://dx.doi.org/10.1038/s41431-018-0280-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303263PMC
January 2019

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

Eur J Med Genet 2019 Jan 23:103618. Epub 2019 Jan 23.

Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2019.01.008DOI Listing
January 2019

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

Am J Hum Genet 2018 12 29;103(6):858-873. Epub 2018 Nov 29.

Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville 3052, VIC, Australia; Department of Medical Biology, The University of Melbourne, Melbourne 3010, VIC, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288141PMC
December 2018

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

J Adolesc Young Adult Oncol 2018 10 13;7(5):525-545. Epub 2018 Jul 13.

1 Familial Cancer Centre, Peter MacCallum Cancer Centre , Melbourne, Australia .

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https://www.liebertpub.com/doi/10.1089/jayao.2018.0028
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http://dx.doi.org/10.1089/jayao.2018.0028DOI Listing
October 2018

Fragile X population carrier screening.

Genet Med 2018 09;20(9):1091-1092

Murdoch Childrens Research Institute, Genetics Education and Health Research, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/gim.2017.209DOI Listing
September 2018

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Neurol Genet 2018 Aug 23;4(4):e250. Epub 2018 Jul 23.

Department of Neurology (A.G.H., D.R.L.), University of Pennsylvania; Divisions of Neurology and Pediatrics (L.A.H., D.R.L.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.P.), University of California at Los Angeles; Departments of Neurology and Pediatrics (K.M.), University of Iowa; Department of Neurology (G.R.W.), Emory University, Atlanta, GA; Department of Neurology (T.Z.), University of South Florida, Tampa Bay; Department of Neurology (S.H.S.), University of Florida, Gainesville; Department of Neurology (T.A.), Houston Methodist Hospital, TX; Murdoch Children's Research Institute (M.B.D.), Melbourne, Victoria, Australia; and Department of Neurology (A.B.), University of Rochester, NY.

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http://dx.doi.org/10.1212/NXG.0000000000000250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066362PMC
August 2018

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

Neurology 2018 06 9;90(24):1087-1088. Epub 2018 May 9.

From the Department of Genetic Medicine (P.J.M.), Belfast HSC Trust; Centre for Cancer Research and Cell Biology (P.J.M.), Queens University of Belfast, UK; Victorian Clinical Genetics Services (M.D.) and Bruce Lefroy Centre (M.D.), Murdoch Children's Research Institute, Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005670DOI Listing
June 2018

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

F1000Res 2018 13;7. Epub 2018 Jun 13.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.12688/f1000research.13980.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008857PMC
June 2018

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

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

1 Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia.

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http://dx.doi.org/10.1177/0269215517736903DOI Listing
May 2018

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

J Child Neurol 2018 05 2;33(6):397-404. Epub 2018 Apr 2.

1 Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073818764941DOI Listing
May 2018

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

Gait Posture 2018 Mar 4;61:149-162. Epub 2018 Jan 4.

Bruce Lefroy Centre, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, 3052, Australia; Monash Health, 246 Clayton Road, Clayton, 3168, Australia; Monash Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University, Wellington Road, Clayton, 3800, Australia; Department of Paediatrics, The University of Melbourne, Parkville, 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2017.12.031DOI Listing
March 2018

Progress in the treatment of Friedreich ataxia.

Neurol Neurochir Pol 2018 Mar 19;52(2):129-139. Epub 2018 Feb 19.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pjnns.2018.02.003DOI Listing
March 2018

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

Lancet Haematol 2017 Dec;4(12):e607-e614

Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Monash University, Melbourne, VIC, Australia; Austin Health, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/S2352-3026(17)30214-4DOI Listing
December 2017

Dysphagia in Friedreich Ataxia.

Dysphagia 2017 10 4;32(5):626-635. Epub 2017 May 4.

Centre for Neuroscience of Speech, The University of Melbourne, 550 Swanston Street, Parkville, Melbourne, VIC, 3010, Australia.

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http://dx.doi.org/10.1007/s00455-017-9804-4DOI Listing
October 2017

Measuring Inhibition and Cognitive Flexibility in Friedreich Ataxia.

Cerebellum 2017 08;16(4):757-763

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1007/s12311-017-0848-7DOI Listing
August 2017

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

Mov Disord 2017 Aug 27;32(8):1221-1229. Epub 2017 May 27.

School of Psychological Sciences & Monash Institute of Cognitive and Clinical Neurosciences, Monash University, Melbourne, Australia.

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http://dx.doi.org/10.1002/mds.27023DOI Listing
August 2017

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

J Neurol 2017 Aug 10;264(8):1768-1776. Epub 2017 Jul 10.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Rd, Parkville, VIC, 3052, Australia.

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http://dx.doi.org/10.1007/s00415-017-8566-0DOI Listing
August 2017

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Neuromuscul Disord 2017 Jul 5;27(7):607-615. Epub 2017 May 5.

Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.04.011DOI Listing
July 2017

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

Neurorehabil Neural Repair 2017 Jul 9;31(7):609-622. Epub 2017 Jun 9.

1 Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1177/1545968317712469DOI Listing
July 2017

Voice in Friedreich Ataxia.

J Voice 2017 Mar 5;31(2):243.e9-243.e19. Epub 2016 Aug 5.

Department of Audiology & Speech Pathology, Bloomsburg University of Pennsylvania, Bloomsburg, Pennsylvania.

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https://linkinghub.elsevier.com/retrieve/pii/S08921997163001
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http://dx.doi.org/10.1016/j.jvoice.2016.04.015DOI Listing
March 2017

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

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

Murdoch Childrens Research Institute (D.J.A., A.P.L.M., G.G., M.B.D., K.P., R.J.L., P.J.L.), Royal Children's Hospital (D.J.A., M.B.D., R.J.L.), Parkville; Department of Paediatrics (D.J.A., A.P.L.M., M.B.D., C.B., R.J.L., P.J.L.), Department of Medical Biology (R.T., M.B.), The University of Melbourne; Department of Medicine (Neuroscience) (E.S.), Central Clinical School, Monash University; and Population Health and Immunity Division (R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070413PMC
December 2016

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

J Neurol Neurosurg Psychiatry 2016 11 24;87(11):1261-1263. Epub 2016 Mar 24.

Monash Biomedical Imaging, Monash University, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1136/jnnp-2015-312665DOI Listing
November 2016

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

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

School of Psychological Sciences and Monash Institute of Cognitive and Clinical Neurosciences, Monash University, 18 Innovation Walk, Melbourne, VIC, 3800, Australia.

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http://dx.doi.org/10.1007/s00415-016-8252-7DOI Listing
November 2016

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

J Med Ethics 2016 10 8;42(10):640-2. Epub 2016 Jun 8.

Murdoch Childrens Research Institute, Parkville, Victoria, Australia Victorian Clinical Genetics Services, Parkville, Victoria, Australia University of Melbourne, Parkville, Victoria, Australia Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1136/medethics-2016-103400DOI Listing
October 2016

How should hyperferritinaemia be investigated and managed?

Eur J Intern Med 2016 Sep 23;33:21-7. Epub 2016 Jun 23.

Bruce Lefroy Centre, Murdoch Childrens Research Institute, Flemington Road, Parkville, Victoria 3052, Australia; The University of Melbourne, Parkville, Victoria 3010, Australia; Clinical Genetics, Austin Health, 145 Studley Road, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2016.05.014DOI Listing
September 2016

Progression of Friedreich ataxia: quantitative characterization over 5 years.

Ann Clin Transl Neurol 2016 09 25;3(9):684-94. Epub 2016 Jul 25.

Departments of Pediatrics and Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania; Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania.

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http://dx.doi.org/10.1002/acn3.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018581PMC
September 2016

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

J Child Neurol 2016 08 12;31(9):1161-5. Epub 2016 Apr 12.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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http://dx.doi.org/10.1177/0883073816643408DOI Listing
August 2016

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

J Huntingtons Dis 2015 ;4(3):209-17

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Australia.

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http://dx.doi.org/10.3233/JHD-150148DOI Listing
July 2016

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

J Clin Neurosci 2016 Jul 25;29:29-34. Epub 2016 Mar 25.

School of Psychological Sciences, Monash University, Clayton, VIC, Australia.

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http://dx.doi.org/10.1016/j.jocn.2016.01.011DOI Listing
July 2016

Huntington disease: More common than you think?

Neurology 2016 07 22;87(3):247-8. Epub 2016 Jun 22.

From Bruce Lefroy Centre (M.B.D.), Murdoch Children's Research Institute, Parkville; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Neuroscience (O.B.), Sheffield Institute for Translational Neuroscience, University of Sheffield, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002874DOI Listing
July 2016

Using human pluripotent stem cells to study Friedreich ataxia cardiomyopathy.

Int J Cardiol 2016 Jun 21;212:37-43. Epub 2016 Mar 21.

Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Australia; Ophthalmology, Department of Surgery, The University of Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.03.040DOI Listing
June 2016

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

Hum Brain Mapp 2016 Jan 27;37(1):338-50. Epub 2015 Oct 27.

School of Psychological Sciences, Monash University, Melbourne, Australia.

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http://dx.doi.org/10.1002/hbm.23034DOI Listing
January 2016

Characterization of the retinal pigment epithelium in Friedreich ataxia.

Biochem Biophys Rep 2015 Dec 11;4:141-147. Epub 2015 Sep 11.

Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital & Department of Surgery, The University of Melbourne, East Melbourne, Australia.

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http://dx.doi.org/10.1016/j.bbrep.2015.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668915PMC
December 2015

"Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.

J Genet Couns 2015 Oct 17;24(5):732-43. Epub 2015 Jan 17.

Murdoch Childrens Research Institute, Flemington Road, Parkville, VIC, Australia.

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http://link.springer.com/10.1007/s10897-014-9801-9
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http://dx.doi.org/10.1007/s10897-014-9801-9DOI Listing
October 2015

An autosomal dominant form of non-cirrhotic portal hypertension.

J Hepatol 2015 Aug 18;63(2):525-7. Epub 2015 Mar 18.

Gastroenterology and Liver Transplant Unit, Austin Hospital, Melbourne, Victoria, Australia; University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.jhep.2015.03.016DOI Listing
August 2015

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

Neurol Genet 2015 Aug 16;1(2):e16. Epub 2015 Jul 16.

Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., E.M.Y., J.C.H.S., M.B.D., P.J.L.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Australia; Bioinformatics Division (V.L., C.B., R.T., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia; Department of Neurology (M.M.R., E.M.Y., R.J.L.) and Department of Paediatrics (A.P.L.M., M.M.R., E.M.Y., M.B.D., D.J.A., R.J.L., P.J.L.), The University of Melbourne, Royal Children's Hospital, Parkville, Australia; Victorian Clinical Genetics Services (D.J.A., G.M.) and Neuroscience Research (M.M.R., R.J.L.), Murdoch Childrens Research Institute, Parkville, Australia; Department of Neurology (E.H.S.), UCSF Benioff Children's Hospital, San Francisco, CA; Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (R.T., M.B.), The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807911PMC
August 2015

Reduced mortality due to phlebotomy in moderately iron-loaded HFE haemochromatosis? The need for clinical trials.

J Hepatol 2015 Jul 1;63(1):282-3. Epub 2015 Apr 1.

QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1016/j.jhep.2015.03.028DOI Listing
July 2015

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

J Neurol Neurosurg Psychiatry 2015 Jun 11;86(6):660-6. Epub 2014 Aug 11.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia Monash Health, Clayton, Victoria, Australia Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia Department of Paediatrics, Monash University, Clayton, Victoria, Australia Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.

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http://jnnp.bmj.com/content/early/2014/08/10/jnnp-2014-30802
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-308022
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http://dx.doi.org/10.1136/jnnp-2014-308022DOI Listing
June 2015

A longitudinal study of the Friedreich Ataxia Impact Scale.

J Neurol Sci 2015 May 21;352(1-2):53-7. Epub 2015 Mar 21.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia; School of Psychological Science, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3168, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Department of Clinical Genetics, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.03.024DOI Listing
May 2015

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Neurology 2015 May 15;84(20):2029-32. Epub 2015 Apr 15.

From the Departments of Neurology (R.J.L., A.S.H.), Neurosurgery (W.M.), and Anatomical Pathology (D.M.), The Royal Children's Hospital, Melbourne; Department of Pediatrics (R.J.L., A.S.H., M.B.D., D.J.A., P.J.L.), The University of Melbourne; Bioinformatics Division (T.S., M.B.), The Walter and Eliza Hall Institute of Medical Research, Melbourne; Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., G.G., M.B.D., D.J.A., P.J.L.), Murdoch Childrens Research Institute (R.J.L., A.S.H.), Melbourne; Clinical Genetics (M.B.D.), Austin Health, Melbourne, Australia; and Shriners Hospital Pediatric Research Center (P.C.), Temple University, Philadelphia, PA.

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http://www.neurology.org/content/84/20/2029.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000159
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http://dx.doi.org/10.1212/WNL.0000000000001594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442098PMC
May 2015

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

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

Natural history of HFE simple heterozygosity for C282Y and H63D: a prospective 12-year study.

J Gastroenterol Hepatol 2015 Apr;30(4):719-25

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jgh.12804DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782752PMC
April 2015

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

J Paediatr Child Health 2015 Mar 13;51(3):271-9. Epub 2014 Jun 13.

Department of Obstetrics and Gynaecology, QEII Research Institute for Mothers and Infants, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.12632DOI Listing
March 2015

Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A.

Neurology 2015 Feb 9;84(6):569-74. Epub 2015 Jan 9.

From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001236DOI Listing
February 2015

Tay-Sachs disease: current perspectives from Australia.

Appl Clin Genet 2015 21;8:19-25. Epub 2015 Jan 21.

Department of Clinical Genetics, Austin Health, Heidelberg, Australia ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Australia.

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http://dx.doi.org/10.2147/TACG.S49628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309774PMC
February 2015

Nasality in Friedreich ataxia.

Clin Linguist Phon 2015 Jan 10;29(1):46-58. Epub 2014 Sep 10.

Speech Neuroscience Unit, The University of Melbourne , Parkville, VIC , Australia .

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http://dx.doi.org/10.3109/02699206.2014.954734DOI Listing
January 2015

Sensitivity of spatiotemporal gait parameters in measuring disease severity in Friedreich ataxia.

Cerebellum 2014 Dec;13(6):677-88

Physiotherapy Department, Kingston Centre, Monash Health, Cheltenham, VIC, Australia.

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http://dx.doi.org/10.1007/s12311-014-0583-2DOI Listing
December 2014

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Ann Neurol 2014 Oct 30;76(4):509-21. Epub 2014 Aug 30.

Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.24248DOI Listing
October 2014

Cell and gene therapy for Friedreich ataxia: progress to date.

Hum Gene Ther 2014 Aug 19;25(8):684-93. Epub 2014 Jun 19.

1 Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute , Parkville Victoria 3052, Australia .

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http://dx.doi.org/10.1089/hum.2013.180DOI Listing
August 2014

Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study.

J Neurol Sci 2014 Aug 2;343(1-2):138-43. Epub 2014 Jun 2.

Monash Biomedical Imaging, Monash University, Clayton, Victoria 3800, Australia; School of Psychological Sciences, Monash University, Clayton, Victoria 3800, Australia.

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http://dx.doi.org/10.1016/j.jns.2014.05.057DOI Listing
August 2014

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Int J Stroke 2014 Aug;9(6):E26-7

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Vic., Australia; Department of Medical Biology, The University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1111/ijs.12306DOI Listing
August 2014

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.

Mov Disord 2014 Jun 3;29(7):940-3. Epub 2014 Jan 3.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia; Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia; School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia.

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http://dx.doi.org/10.1002/mds.25795DOI Listing
June 2014

Saccade reprogramming in Friedreich ataxia reveals impairments in the cognitive control of saccadic eye movement.

Brain Cogn 2014 Jun 19;87:161-7. Epub 2014 Apr 19.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia; Clinical Genetics, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1016/j.bandc.2014.03.018DOI Listing
June 2014

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.

Discov Med 2014 Jan;17(91):25-35

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia and Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.

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January 2014