Publications by authors named "Michael Fahey"

100Publications

Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy: A survey study.

Neurology 2020 Oct 12. Epub 2020 Oct 12.

From the Department of Neurology (B.R.A., T.S.P.), Division of Pediatric Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO; Departments of Pediatrics and Neurology/Neurosurgery (M.S.), Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Division of Pediatric Neurology (J.L.Wilson, B.R.), Oregon Health & Science University, Portland, OR; Department of Pediatrics (Y-M.K.), Division of Pediatric Neurology, Loma Linda University School of Medicine, Loma Linda, CA; Stanford University School of Medicine (J.A.O.), Palo Alto, CA; Departments of Child Health (M.C.K.), Neurology & Genetics, University of Arizona College of Medicine, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ; Pediatric Movement Disorders Program and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Paediatrics (M.F.), Monash University, Melbourne, Australia; Department of Pediatrics (J.L.Waugh), Division of Pediatric Neurology and Department of Neurology and Neurotherapeutics, University of Texas Southwestern, Dallas, TX; Department of Neurology and Developmental Medicine (B.S.), The Kennedy Krieger Institute, Baltimore, MD; Louisiana State University Health Sciences Center New Orleans and Children's Hospital of New Orleans (A.T.), New Orleans, LA.

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http://dx.doi.org/10.1212/WNL.0000000000011036DOI Listing
October 2020

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Nat Genet 2020 Oct 28;52(10):1046-1056. Epub 2020 Sep 28.

Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.

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http://dx.doi.org/10.1038/s41588-020-0695-1DOI Listing
October 2020

Early detection of cerebral palsy in high-risk infants: Translation of evidence into practice in an Australian hospital.

J Paediatr Child Health 2020 Sep 17. Epub 2020 Sep 17.

Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.15191DOI Listing
September 2020

Prenatal cranial MR findings in fetuses with suspected CMV infection: Correlation with postnatal outcome and differential diagnostic considerations.

J Med Imaging Radiat Oncol 2020 Jul 27. Epub 2020 Jul 27.

Department of Infectious Diseases, Alfred Health, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/1754-9485.13083DOI Listing
July 2020

Occult Ingested Foreign Body: An Unusual Cause of Perimyocarditis.

J Emerg Med 2020 Jul 29. Epub 2020 Jul 29.

Department of Pediatrics, Division of Pediatric Cardiology, University of Massachusetts Medical School, Worcester, Massachusetts.

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http://dx.doi.org/10.1016/j.jemermed.2020.06.036DOI Listing
July 2020

Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.

Am J Hematol 2020 Jul 28. Epub 2020 Jul 28.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.

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http://dx.doi.org/10.1002/ajh.25946DOI Listing
July 2020

Pain in children with dyskinetic and mixed dyskinetic/spastic cerebral palsy.

Dev Med Child Neurol 2020 Nov 25;62(11):1294-1301. Epub 2020 Jul 25.

Department of Physiotherapy, Monash University, Frankston, Victoria, Australia.

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http://dx.doi.org/10.1111/dmcn.14615DOI Listing
November 2020

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.

Acta Neuropathol Commun 2020 06 29;8(1):93. Epub 2020 Jun 29.

Mitochondrial dysfunctions in neurodegeneration Unit, Division of Neuroscience, Ospedale San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1186/s40478-020-00975-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325028PMC
June 2020

Multiple doses of umbilical cord blood cells improve long-term brain injury in the neonatal rat.

Brain Res 2020 Nov 2;1746:147001. Epub 2020 Jul 2.

The Ritchie Centre, Hudson Institute of Medical Research, Clayton, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2020.147001DOI Listing
November 2020

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology 2020 05 28;94(20):e2148-e2167. Epub 2020 Apr 28.

From the Department of Medicine (M.S.H., M.C., K.A.R., I.E.S.), The University of Melbourne, Austin Health, Heidelberg; Population Health and Immunity Division (V.E.J., T.S.S., M.B.), The Walter and Eliza Hall Institute of Medical Research; Departments of Medical Biology (V.E.J., T.S.S., M.B.) and Audiology and Speech Pathology (R.O.B., A.T.M.) and Department of Paediatrics, The Royal Children's Hospital (B.P.-F., G.P., M.H., D.J.A., I.E.S.), The University of Melbourne; Speech and Language (O.V.R., R.O.B., S.T., S.B., S.R., A.T.M.), Murdoch Children's Research Institute (M.S.H., D.J.A., I.E.S.); Victorian Clinical Genetics Services (A. Boys, M.D.), Parkville, Victoria; Department of Neurology (R.W.) and Clinical Genetics (A.M.), The Children's Hospital Westmead; Department of Paediatrics (M.F., K.S.), Monash University; Monash Children's Hospital (K.S.), Clayton, Victoria; The Wesley Hospital (D.C.), Auchenflower, Queensland; Hunter Genetics (H.G., A. Baxter), John Hunter Hospital, New Lambton Heights; Melbourne Children's Clinic (N.D.), Victoria; Griffith University (S.R.), Mount Gravatt, Queensland, Australia; UCL Great Ormond Street Institute of Child Health (F.J.L.), London, UK; Florey Institute of Neuroscience and Mental Health (A.C., I.E.S.), Parkville, Victoria; South Australian Health and Medical Research Institute (J.G.), Robinson Research Institute and Adelaide Medical School, University of Adelaide, South Australia; Language and Genetics Department (S.E.F.), Max Planck Institute for Psycholinguistics; and Donders Institute for Brain, Cognition and Behaviour (S.E.F.), Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009441DOI Listing
May 2020

The lived experience of chronic pain and dyskinesia in children and adolescents with cerebral palsy.

BMC Pediatr 2020 03 17;20(1):125. Epub 2020 Mar 17.

Neurodisability & Rehabilitation, Murdoch Children's Research Institute, 50 Flemington Rd, Parkville, 3052, Victoria, Australia.

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http://dx.doi.org/10.1186/s12887-020-2011-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076980PMC
March 2020

State of the Evidence Traffic Lights 2019: Systematic Review of Interventions for Preventing and Treating Children with Cerebral Palsy.

Curr Neurol Neurosci Rep 2020 02 21;20(2). Epub 2020 Feb 21.

Cerebral Palsy Alliance Research Institute, Discipline of Child & Adolescent Health, Faculty of Medicine & Health, The University of Sydney, PO Box 6427, Frenchs Forest, Sydney, NSW, 2086, Australia.

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http://dx.doi.org/10.1007/s11910-020-1022-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035308PMC
February 2020

Exploring health professionals' understanding of evidence-based treatment for idiopathic toe walking.

Child Care Health Dev 2020 05 30;46(3):310-319. Epub 2020 Jan 30.

Department of Health Professions, Macquarie University, Macquarie, New South Wales, Australia.

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http://dx.doi.org/10.1111/cch.12745DOI Listing
May 2020

Fetal hypoxia-ischaemia: wrong time, wrong place.

Authors:
Michael Fahey

Dev Med Child Neurol 2020 05 26;62(5):539-540. Epub 2019 Dec 26.

Department of Paediatrics, Monash University, Melbourne, Australia.

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http://dx.doi.org/10.1111/dmcn.14446DOI Listing
May 2020

Interventions for idiopathic toe walking.

Cochrane Database Syst Rev 2019 Oct 6;10:CD012363. Epub 2019 Oct 6.

Child and Family Team, Monash Health, 140-154 Sladen St, Cranbourne, Victoria, Australia, 3977.

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http://dx.doi.org/10.1002/14651858.CD012363.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778693PMC
October 2019

Adherence to Active Surveillance Protocols for Low-risk Prostate Cancer: Results of the Movember Foundation's Global Action Plan Prostate Cancer Active Surveillance Initiative.

Eur Urol Oncol 2020 02 26;3(1):80-91. Epub 2019 Sep 26.

Department of Surgery, Faculty of Medicine, Monash University, Melbourne, Victoria, Australia; Department of Urology, Monash Health, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.euo.2019.08.014DOI Listing
February 2020

Longitudinal changes in bone density in adolescents and young adults with cerebral palsy: A case for early intervention.

Clin Endocrinol (Oxf) 2019 10 10;91(4):517-524. Epub 2019 Jul 10.

Department of Endocrinology, Monash Health, Melbourne, Victoria, Australia.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cen.14052
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http://dx.doi.org/10.1111/cen.14052DOI Listing
October 2019

Consistent Biopsy Quality and Gleason Grading Within the Global Active Surveillance Global Action Plan 3 Initiative: A Prerequisite for Future Studies.

Eur Urol Oncol 2019 05 13;2(3):333-336. Epub 2018 Sep 13.

Erasmus Medical Center, Rotterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S25889311183013
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http://dx.doi.org/10.1016/j.euo.2018.08.017DOI Listing
May 2019

Beta-blocker use is an independent risk factor for thunderstorm asthma.

Emerg Med Australas 2019 12 18;31(6):955-960. Epub 2019 Mar 18.

Emergency Department, Epworth Richmond Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/1742-6723.13275DOI Listing
December 2019

Resolution of fetal second-degree atrioventricular block.

J Electrocardiol 2018 Nov - Dec;51(6):945-947. Epub 2018 Aug 17.

University of Massachusetts Medical School, Department of Pediatric Cardiology, 55 Lake Avenue North, Worcester, MA 01655, United States of America.

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https://linkinghub.elsevier.com/retrieve/pii/S00220736183048
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http://dx.doi.org/10.1016/j.jelectrocard.2018.08.020DOI Listing
October 2019

Diagnosing cerebral palsy in full-term infants.

J Paediatr Child Health 2018 10;54(10):1159-1164

School of Medicine, Paediatrics and Child Health, Sydney, New South Wales, Australia.

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http://doi.wiley.com/10.1111/jpc.14177
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http://dx.doi.org/10.1111/jpc.14177DOI Listing
October 2018

Neuropathology as a consequence of neonatal ventilation in premature growth-restricted lambs.

Am J Physiol Regul Integr Comp Physiol 2018 12 19;315(6):R1183-R1194. Epub 2018 Sep 19.

The Ritchie Centre, Hudson Institute of Medical Research , Melbourne , Australia.

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http://dx.doi.org/10.1152/ajpregu.00171.2018DOI Listing
December 2018

Delayed Presentation of Traumatic Pericardial Rupture: Diagnostic and Surgical Considerations for Treatment.

Heart Surg Forum 2018 06 14;21(4):E254-E256. Epub 2018 Jun 14.

Division of Cardiac Surgery, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1532/hsf.1977DOI Listing
June 2018

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction.

Genes (Basel) 2018 Jun 7;9(6). Epub 2018 Jun 7.

Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, 3052 Victoria, Australia.

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http://www.mdpi.com/2073-4425/9/6/287
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http://dx.doi.org/10.3390/genes9060287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027392PMC
June 2018

Systematic review of high-level mobility training in people with a neurological impairment.

Brain Inj 2018 2;32(4):403-415. Epub 2018 Feb 2.

a Victorian Paediatric Rehabilitation Service , Monash Children's Hospital , Melbourne , Australia.

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http://dx.doi.org/10.1080/02699052.2018.1429656DOI Listing
May 2019

Fat-Bone Interactions in Adults With Spina Bifida.

J Endocr Soc 2017 Oct 27;1(10):1301-1311. Epub 2017 Sep 27.

Department of Endocrinology, Monash Health, Melbourne, Victoria 3168, Australia.

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http://academic.oup.com/jes/article/1/10/1301/4201667/FatBon
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http://dx.doi.org/10.1210/js.2017-00258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686646PMC
October 2017

Umbilical cord blood cells for treatment of cerebral palsy; timing and treatment options.

Pediatr Res 2018 01 1;83(1-2):333-344. Epub 2017 Nov 1.

The Ritchie Centre, Hudson Institute of Medical Research and Department of Obstetrics and Gynaecology, Monash University, Clayton, Victoria, Australia.

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http://dx.doi.org/10.1038/pr.2017.236DOI Listing
January 2018

Ganaxolone: A New Treatment for Neonatal Seizures.

Front Cell Neurosci 2017 22;11:246. Epub 2017 Aug 22.

Ritchie Centre, Hudson Institute of Medical ResearchClayton, VIC, Australia.

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http://dx.doi.org/10.3389/fncel.2017.00246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5572234PMC
August 2017

Fetal brain injury in complicated monochorionic pregnancies: diagnostic yield of prenatal MRI following surveillance ultrasound and influence on prognostic counselling.

Prenat Diagn 2017 Jun 23;37(6):611-627. Epub 2017 May 23.

Department of Medical Imaging, School of Clinical Sciences, Monash University, Clayton, Victoria, Australia.

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http://dx.doi.org/10.1002/pd.5059DOI Listing
June 2017

Perinatal Brain Injury As a Consequence of Preterm Birth and Intrauterine Inflammation: Designing Targeted Stem Cell Therapies.

Front Neurosci 2017 10;11:200. Epub 2017 Apr 10.

Neurodevelopment and Neuroprotection Research Group, The Ritchie Centre, Hudson Institute of Medical Research, Monash UniversityClayton, VIC, Australia.

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http://dx.doi.org/10.3389/fnins.2017.00200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385368PMC
April 2017

Detection and assessment of brain injury in the growth-restricted fetus and neonate.

Pediatr Res 2017 Aug 17;82(2):184-193. Epub 2017 May 17.

The Ritchie Centre, Hudson Institute of Medical Research, Melbourne, Australia.

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http://dx.doi.org/10.1038/pr.2017.37DOI Listing
August 2017

Seizures in Children With Cerebral Palsy and White Matter Injury.

Pediatrics 2017 Mar 16;139(3). Epub 2017 Feb 16.

The Royal Children's Hospital, Melbourne, Victoria, Australia;

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http://dx.doi.org/10.1542/peds.2016-2975DOI Listing
March 2017

Optimizing bone health in cerebral palsy across the lifespan.

Dev Med Child Neurol 2017 02;59(2):232-233

Department of Endocrinology, Monash Health, Melbourne, Vic., Australia.

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http://dx.doi.org/10.1111/dmcn.13355DOI Listing
February 2017

The genetic basis of cerebral palsy.

Dev Med Child Neurol 2017 05 1;59(5):462-469. Epub 2017 Jan 1.

Departments of Child Health, Neurology and Genetics, University of Arizona, College of Medicine, Phoenix, AZ, USA.

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http://dx.doi.org/10.1111/dmcn.13363DOI Listing
May 2017

Preterm Hypoxic-Ischemic Encephalopathy.

Front Pediatr 2016 20;4:114. Epub 2016 Oct 20.

Monash Children's Hospital, Melbourne, VIC, Australia; The Ritchie Centre, Hudson Institute of Medical Research, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.

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http://dx.doi.org/10.3389/fped.2016.00114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5071348PMC
October 2016

Bizarre eye movements in a newborn.

J Paediatr Child Health 2016 Oct;52(10):967

West Gippsland Paediatric Group, Warragul, Australia.

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http://dx.doi.org/10.1111/jpc.1_13147DOI Listing
October 2016

Pharmacological treatments for Friedreich ataxia.

Cochrane Database Syst Rev 2016 Aug 30(8):CD007791. Epub 2016 Aug 30.

General Practice, Irish College of General Practitioners, Dunlavin, County Wicklow, Ireland.

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http://dx.doi.org/10.1002/14651858.CD007791.pub4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457808PMC
August 2016

Concise Review: Stem Cell Interventions for People With Cerebral Palsy: Systematic Review With Meta-Analysis.

Stem Cells Transl Med 2016 Aug 31;5(8):1014-25. Epub 2016 May 31.

Cerebral Palsy Alliance, The University of Sydney, Sydney, New South Wales, Australia Grace Centre for Newborn Care, Children's Hospital at Westmead, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.5966/sctm.2015-0372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4954458PMC
August 2016

Validity and calibration of the FFQ used in the Melbourne Collaborative Cohort Study.

Public Health Nutr 2016 09 14;19(13):2357-68. Epub 2016 Apr 14.

1Cancer Epidemiology Centre,Cancer Council Victoria,615 St Kilda Road,Melbourne,Victoria 3004,Australia.

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http://dx.doi.org/10.1017/S1368980016000690DOI Listing
September 2016

Does early communication mediate the relationship between motor ability and social function in children with cerebral palsy?

Res Dev Disabil 2016 Jun-Jul;53-54:279-86. Epub 2016 Mar 5.

School of Psychology, The University of Queensland, Brisbane, Australia; Queensland Cerebral Palsy and Rehabilitation Research Centre, University of Queensland, Brisbane, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2016.02.013DOI Listing
January 2017

A Comparison of the Birth Characteristics of Idiopathic Toe Walking and Toe Walking Gait Due to Medical Reasons.

J Pediatr 2016 Apr 16;171:290-3. Epub 2016 Jan 16.

Department of Physiotherapy, Monash University, Frankston, Victoria, Australia; Allied Health Research Unit, Monash Health, Cheltenham, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.12.069DOI Listing
April 2016

Injection frequency of botulinum toxin A for spastic equinus: a randomized clinical trial.

Dev Med Child Neurol 2016 Jul 20;58(7):750-7. Epub 2015 Nov 20.

NHMRC-Funded Centre of Research Excellence in Cerebral Palsy, Melbourne, Vic., Australia.

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http://dx.doi.org/10.1111/dmcn.12962DOI Listing
July 2016

Short case: Gait examination.

J Paediatr Child Health 2015 Sep;51(9):845-6

Private Practice, Queensland, Australia.

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http://dx.doi.org/10.1111/jpc.12991DOI Listing
September 2015

Statin Selection in Qatar Based on Multi-indication Pharmacotherapeutic Multi-criteria Scoring Model, and Clinician Preference.

Clin Ther 2015 Dec 20;37(12):2798-810. Epub 2015 Aug 20.

Department of Pharmacy, Heart Hospital and the National Center for Cancer Care & Research, Hamad Medical Corporation, Doha, Qatar.

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https://linkinghub.elsevier.com/retrieve/pii/S01492918150096
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http://dx.doi.org/10.1016/j.clinthera.2015.07.020DOI Listing
December 2015

Early developmental brain injury/interference: moving on from cerebral palsy.

Authors:
Michael Fahey

Dev Med Child Neurol 2015 Jul;57(7):681

Department of Paediatrics, Monash University, Melbourne, Vic., Australia.

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http://dx.doi.org/10.1111/dmcn.12776DOI Listing
July 2015

Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann-Pick disease type C patients treated with miglustat.

J Neurol 2015 Sep 20;262(9):2106-14. Epub 2015 Jun 20.

Melbourne Neuropsychiatry Centre, University of Melbourne and Melbourne Health, Parkville, VIC, Australia.

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http://dx.doi.org/10.1007/s00415-015-7819-zDOI Listing
September 2015

The eye examination.

Authors:
Michael Fahey

J Paediatr Child Health 2015 Jun;51(6):571-2

Department of Paediatric Neurology, Monash Medical Centre, Melbourne, Victoria, Australia.

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http://doi.wiley.com/10.1111/jpc.12921
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http://dx.doi.org/10.1111/jpc.12921DOI Listing
June 2015

Floppy baby.

Authors:
Michael Fahey

J Paediatr Child Health 2015 Apr;51(4):355-6

Department of Paediatric Neurology, Monash Medical Centre, Melboune, Victoria, Australia; Department of Paediatrics, Monash University, Melboune, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.12871DOI Listing
April 2015

Isolated ventriculomegaly on prenatal ultrasound: what does fetal MRI add?

J Med Imaging Radiat Oncol 2015 Apr 2;59(2):154-62. Epub 2015 Mar 2.

Monash Childrens, Monash Health, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/1754-9485.12287DOI Listing
April 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Could cord blood cell therapy reduce preterm brain injury?

Front Neurol 2014 9;5:200. Epub 2014 Oct 9.

The Ritchie Centre, MIMR-PHI Institute , Clayton, VIC , Australia ; Department of Obstetrics and Gynaecology, Monash University , Clayton, VIC , Australia.

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http://journal.frontiersin.org/article/10.3389/fneur.2014.00
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http://dx.doi.org/10.3389/fneur.2014.00200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191167PMC
October 2014

Correcting for the bias caused by exposure measurement error in epidemiological studies.

Respirology 2014 Oct 14;19(7):979-84. Epub 2014 Aug 14.

School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia; The Victorian Centre for Biostatistics (ViCBiostat), Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/resp.12356DOI Listing
October 2014

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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June 2015

Detecting brain injury in neonatal hypoxic ischemic encephalopathy: closing the gap between experimental and clinical research.

Exp Neurol 2014 Nov 28;261:281-90. Epub 2014 Jul 28.

The Ritchie Centre, MIMR-PHI Institute, Clayton, Victoria, Australia; Department of Obstetrics and Gynaecology, Monash University, Clayton, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.expneurol.2014.07.009DOI Listing
November 2014

Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: value of early diagnosis and treatment.

J Clin Neurosci 2014 Oct 17;21(10):1815-7. Epub 2014 May 17.

Women's and Children's Program, Monash Medical Centre, Clayton, VIC, Australia; Department of Paediatrics, Monash University, Clayton, VIC, Australia.

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http://dx.doi.org/10.1016/j.jocn.2013.12.030DOI Listing
October 2014

Human autoimmunity after lymphocyte depletion is caused by homeostatic T-cell proliferation.

Proc Natl Acad Sci U S A 2013 Dec 26;110(50):20200-5. Epub 2013 Nov 26.

Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3864306PMC
December 2013

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.

Am J Med Genet A 2013 Sep 5;161A(9):2321-6. Epub 2013 Aug 5.

Department of Paediatrics, The Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36055DOI Listing
September 2013

Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C.

Mol Genet Metab 2013 Jan 28;108(1):85-9. Epub 2012 Nov 28.

Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2012.11.009DOI Listing
January 2013

Reported eating ability of young children with cerebral palsy: is there an association with gross motor function?

Arch Phys Med Rehabil 2013 Mar 24;94(3):495-502. Epub 2012 Oct 24.

Queensland Cerebral Palsy and Rehabilitation Research Centre, School of Medicine, The University of Queensland, Queensland, Australia.

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http://dx.doi.org/10.1016/j.apmr.2012.10.007DOI Listing
March 2013

Pharmacy practice in Qatar: challenges and opportunities.

South Med Rev 2011 Dec 2;4(2):92-6. Epub 2011 Dec 2.

College of Pharmacy, Qatar University, Doha, Qatar.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471181PMC
December 2011

Governance and assessment in a widely distributed medical education program in Australia.

Acad Med 2012 Jun;87(6):807-14

Bendigo Regional Clinical School and North Victorian Rural Medical Education Network, School of Rural Health, Monash University, Melbourne, Australia.

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June 2012

Antioxidants and other pharmacological treatments for Friedreich ataxia.

Cochrane Database Syst Rev 2012 Apr 18(4):CD007791. Epub 2012 Apr 18.

General Practice, Irish College of General Practitioners, Dunlavin, County Wicklow, Ireland.

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April 2012

Rotavirus cerebellitis: new aspects to an old foe?

Pediatr Neurol 2012 Jan;46(1):48-50

Women's and Children's Program, Monash Medical Centre, Clayton, Victoria, Australia.

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January 2012

Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome.

Am J Med Genet A 2011 Oct;155A(10):2512-5

Genetic Health Services Victoria, Royal Children’s Hospital, Parkville, Australia.

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October 2011

Stem cells: research tools and clinical treatments.

J Paediatr Child Health 2011 Sep;47(9):672-5

Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02172.xDOI Listing
September 2011

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Neurogenetics 2011 Nov 10;12(4):307-13. Epub 2011 Aug 10.

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

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http://link.springer.com/10.1007/s10048-011-0296-3
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November 2011

Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders?

Dev Med Child Neurol 2011 Mar;53(3):226-32

Department of Developmental Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03810.xDOI Listing
March 2011

The role of PCA3 testing in patients with a raised prostate-specific antigen level after Greenlight photoselective vaporization of the prostate.

J Endourol 2010 Nov 21;24(11):1821-4. Epub 2010 Oct 21.

Department of Urology, Broomfield Hospital, Mid Essex Hospital NHS Trust, Chelmsford, England.

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http://www.liebertpub.com/doi/10.1089/end.2010.0196
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November 2010