关注
Michael Fahey
Michael Fahey
在 monash.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
14682017
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, 1-21, 2020
8382020
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
5722015
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
2052017
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
1932012
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
1752008
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
1732009
Preterm hypoxic–ischemic encephalopathy
KR Gopagondanahalli, J Li, MC Fahey, RW Hunt, G Jenkin, SL Miller, ...
Frontiers in pediatrics 4, 114, 2016
1602016
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ...
Jama 323 (24), 2503-2511, 2020
1502020
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
1502008
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
1402006
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ...
Nature genetics 52 (10), 1046-1056, 2020
1262020
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
1182004
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
1152010
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
1122007
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
1082016
Genetic or other causation should not change the clinical diagnosis of cerebral palsy
AH MacLennan, S Lewis, A Moreno-De-Luca, M Fahey, RJ Leventer, ...
Journal of child neurology 34 (8), 472-476, 2019
1072019
Metabolic disorders and mental retardation
SG Kahler, MC Fahey
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2003
1062003
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy
KB Howell, S Eggers, K Dalziel, J Riseley, S Mandelstam, CT Myers, ...
Epilepsia 59 (6), 1177-1187, 2018
1032018
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, 1-12, 2013
1032013
系统目前无法执行此操作,请稍后再试。
文章 1–20