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1.
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Goergen SK, Pool FJ, Turner TJ, Grimm JE, Appleyard MN, Crock C, Fahey MC, Fay MF, Ferris NJ, Liew SM, Perry RD, Revell A, Russell GM, Wang SC, Wriedt C. Evidence-based guideline for the written radiology report: Methods, recommendations and implementation challenges. J Med Imaging Radiat Oncol. 2013 Feb; 57(1):1-7.
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2.
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Abel LA, Bowman EA, Velakoulis D, Fahey MC, Desmond P, Macfarlane MD, Looi JC, Adamson CL, Walterfang M. Saccadic eye movement characteristics in adult niemann-pick type C disease: relationships with disease severity and brain structural measures. PLoS One. 2012; 7(11):e50947.
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3.
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Walterfang M, Abel LA, Desmond P, Fahey MC, Bowman EA, Velakoulis D. Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C. Mol Genet Metab. 2013 Jan; 108(1):85-9.
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4.
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Solarsh G, Lindley J, Whyte G, Fahey M, Walker A. Governance and assessment in a widely distributed medical education program in Australia. Acad Med. 2012 Jun; 87(6):807-14.
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5.
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Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA. Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C. Neurology. 2012 May 15; 78(20):1560-7.
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6.
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Walterfang M, Macfarlane MD, Looi JC, Abel L, Bowman E, Fahey MC, Desmond P, Velakoulis D. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C. Eur J Neurol. 2012 Mar; 19(3):462-7.
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7.
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White SM, Fahey M. Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. Am J Med Genet A. 2011 Oct; 155A(10):2512-5.
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8.
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Fahey MC, Wallace EM. Stem cells: Research tools and clinical treatments. J Paediatr Child Health. 2011 Sep; 47(9):672-5.
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9.
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Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB. A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype. Neurogenetics. 2011 Nov; 12(4):307-13.
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10.
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Walterfang M, Fahey M, Abel L, Fietz M, Wood A, Bowman E, Reutens D, Velakoulis D. Size and shape of the corpus callosum in adult niemann-pick type C reflects state and trait illness variables. AJNR Am J Neuroradiol. 2011 Aug; 32(7):1340-6.
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11.
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Leonard JM, Cozens AL, Reid SM, Fahey MC, Ditchfield MR, Reddihough DS. Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders? Dev Med Child Neurol. 2011 Mar; 53(3):226-32.
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12.
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Whittingham K, Fahey M, Rawicki B, Boyd R. The relationship between motor abilities and early social development in a preschool cohort of children with cerebral palsy. Res Dev Disabil. 2010 Nov-Dec; 31(6):1346-51.
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13.
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Walterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, Adamson C, Kokkinos C, Fietz M, Velakoulis D. White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. Neurology. 2010 Jul 6; 75(1):49-56.
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14.
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Corben LA, Delatycki MB, Bradshaw JL, Horne MK, Fahey MC, Churchyard AJ, Georgiou-Karistianis N. Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction. J Neurol. 2010 May; 257(5):782-91.
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15.
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Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM. Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 2009 Jun; 8(6):537-44.
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16.
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Clark MT, Brooks EL, Chong W, Pappas C, Fahey M. Cobb syndrome: a case report and systematic review of the literature. Pediatr Neurol. 2008 Dec; 39(6):423-5.
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17.
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Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry. 2009 Apr; 80(4):408-11.
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18.
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Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008 Mar; 63(3):329-37.
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19.
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Fahey MC, Cremer PD, Aw ST, Millist L, Todd MJ, White OB, Halmagyi M, Corben LA, Collins V, Churchyard AJ, Tan K, Kowal L, Delatycki MB. Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. Brain. 2008 Apr; 131(Pt 4):1035-45.
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20.
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Wilson CL, Fahey MC, Corben LA, Collins VR, Churchyard AJ, Lamont PJ, Delatycki MB. Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important? Eur J Neurol. 2007 Sep; 14(9):1040-7.
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21.
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Walterfang MA, O'Donovan J, Fahey MC, Velakoulis D. The neuropsychiatry of adrenomyeloneuropathy. CNS Spectr. 2007 Sep; 12(9):696-701.
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22.
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Fahey MC, Corben LA, Collins V, Churchyard AJ, Delatycki MB. The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia. Neurology. 2007 Feb 27; 68(9):705-6.
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23.
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Fahey MC, Corben L, Collins V, Churchyard AJ, Delatycki MB. How is disease progress in Friedreich's ataxia best measured? A study of four rating scales. J Neurol Neurosurg Psychiatry. 2007 Apr; 78(4):411-3.
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24.
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Fielding J, Georgiou-Karistianis N, Millist L, Fahey M, White O. Saccadic trajectory in Huntington's disease. J Int Neuropsychol Soc. 2006 Jul; 12(4):455-64.
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25.
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Corben LA, Georgiou-Karistianis N, Fahey MC, Storey E, Churchyard A, Horne M, Bradshaw JL, Delatycki MB. Towards an understanding of cognitive function in Friedreich ataxia. Brain Res Bull. 2006 Jul 31; 70(3):197-202.
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26.
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Snape KM, Fahey MC, McGillivray G, Gupta P, Milewicz DM, Delatycki MB. Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. Clin Dysmorphol. 2006 Apr; 15(2):95-9.
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27.
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Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, Velakoulis D. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci. 2006; 18(2):158-70.
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28.
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Fahey MC, Knight MA, Shaw JH, Gardner RJ, du Sart D, Lockhart PJ, Delatycki MB, Gates PC, Storey E. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. J Neurol Neurosurg Psychiatry. 2005 Dec; 76(12):1720-2.
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29.
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Vinton A, Fahey MC, O'Brien TJ, Shaw J, Storey E, Gardner RJ, Mitchell PJ, Du Sart D, King JO. Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent. Am J Med Genet A. 2005 Jul 15; 136(2):201-4.
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30.
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MacLennan SC, Fahey MC, Lawson JA. Pharyngeal-cervical-brachial variant Guillain-Barré syndrome in a child. J Child Neurol. 2004 Aug; 19(8):626-7.
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31.
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White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet A. 2004 Jun 1; 127A(2):118-27.
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32.
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Kahler SG, Fahey MC. Metabolic disorders and mental retardation. Am J Med Genet C Semin Med Genet. 2003 Feb 15; 117C(1):31-41.
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