Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment I Novak, C Morgan, L Adde, J Blackman, RN Boyd, ... JAMA pediatrics 171 (9), 897-907, 2017 | 440 | 2017 |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 321 | 2015 |
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C FA Wijburg, F Sedel, M Pineda, CJ Hendriksz, M Fahey, M Walterfang, ... Neurology 78 (20), 1560-1567, 2012 | 154 | 2012 |
Mutations in TPM3 are a common cause of congenital fiber type disproportion NF Clarke, H Kolski, DE Dye, E Lim, RLL Smith, R Patel, MC Fahey, ... Annals of neurology 63 (3), 329-337, 2008 | 153 | 2008 |
Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, ... The Lancet Neurology 8 (6), 537-544, 2009 | 144 | 2009 |
The neuropsychiatry of Niemann-Pick type C disease in adulthood M Walterfang, M Fietz, M Fahey, D Sullivan, P Leane, DI Lubman, ... The Journal of neuropsychiatry and clinical neurosciences 18 (2), 158-170, 2006 | 115 | 2006 |
Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia MC Fahey, PD Cremer, ST Aw, L Millist, MJ Todd, OB White, M Halmagyi, ... Brain 131 (4), 1035-1045, 2008 | 113 | 2008 |
Metabolic disorders and mental retardation SG Kahler, MC Fahey American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2003 | 93 | 2003 |
How is disease progress in Friedreich’s ataxia best measured? A study of four rating scales MC Fahey, L Corben, V Collins, AJ Churchyard, MB Delatycki Journal of Neurology, Neurosurgery & Psychiatry 78 (4), 411-413, 2007 | 88 | 2007 |
The genetic basis of cerebral palsy MC Fahey, AH Maclennan, D Kretzschmar, J Gecz, MC Kruer Developmental Medicine & Child Neurology 59 (5), 462-469, 2017 | 87 | 2017 |
White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study M Walterfang, M Fahey, P Desmond, A Wood, ML Seal, C Steward, ... Neurology 75 (1), 49-56, 2010 | 85 | 2010 |
Antioxidants and other pharmacological treatments for Friedreich ataxia M Kearney, RW Orrell, M Fahey, M Pandolfo Cochrane Database of systematic reviews, 2012 | 80 | 2012 |
Preterm hypoxic–ischemic encephalopathy KR Gopagondanahalli, J Li, MC Fahey, RW Hunt, G Jenkin, SL Miller, ... Frontiers in pediatrics 4, 114, 2016 | 79 | 2016 |
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome SM White, EM Thompson, A Kidd, R Savarirayan, A Turner, D Amor, ... American Journal of Medical Genetics Part A 127 (2), 118-127, 2004 | 76 | 2004 |
Australian Cerebral Palsy Child Study: protocol of a prospective population based study of motor and brain development of preschool aged children with cerebral palsy RN Boyd, R Jordan, L Pareezer, A Moodie, C Finn, B Luther, E Arnfield, ... BMC neurology 13 (1), 1-12, 2013 | 73 | 2013 |
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria SJ Turner, MS Hildebrand, S Block, J Damiano, M Fahey, S Reilly, ... American journal of medical genetics Part A 161 (9), 2321-2326, 2013 | 70 | 2013 |
The relationship between motor abilities and early social development in a preschool cohort of children with cerebral palsy K Whittingham, M Fahey, B Rawicki, R Boyd Research in developmental disabilities 31 (6), 1346-1351, 2010 | 70 | 2010 |
State of the evidence traffic lights 2019: systematic review of interventions for preventing and treating children with cerebral palsy I Novak, C Morgan, M Fahey, M Finch-Edmondson, C Galea, A Hines, ... Current neurology and neuroscience reports 20 (2), 1-21, 2020 | 66 | 2020 |
A new dominantly inherited pure cerebellar ataxia, SCA 30 E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner Journal of Neurology, Neurosurgery & Psychiatry 80 (4), 408-411, 2009 | 66 | 2009 |
Concise review: Stem cell interventions for people with cerebral palsy: Systematic review with meta‐analysis I Novak, K Walker, RW Hunt, EM Wallace, M Fahey, N Badawi Stem cells translational medicine 5 (8), 1014-1025, 2016 | 61 | 2016 |