Publications by authors named "Michael C Fahey"

47Publications

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

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

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

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

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

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

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

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

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

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

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

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

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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http://dx.doi.org/10.1007/s10048-011-0296-3DOI Listing
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

Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction.

J Neurol 2010 May 3;257(5):782-91. Epub 2009 Dec 3.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, 10th Floor, Flemington Road, Parkville, VIC 3052, Australia.

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http://dx.doi.org/10.1007/s00415-009-5410-1DOI Listing
May 2010

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 6;8(6):537-44. Epub 2009 May 6.

Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, and Institute for Neuromuscular Research, Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/S1474-4422(09)70108-5DOI Listing
June 2009

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Ann Neurol 2008 Mar;63(3):329-37

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ana.21308DOI Listing
March 2008

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia.

Brain 2008 Apr 30;131(Pt 4):1035-45. Epub 2008 Jan 30.

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

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http://dx.doi.org/10.1093/brain/awm323DOI Listing
April 2008

The neuropsychiatry of adrenomyeloneuropathy.

CNS Spectr 2007 Sep;12(9):696-701

Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1017/s1092852900021532DOI Listing
September 2007

Towards an understanding of cognitive function in Friedreich ataxia.

Brain Res Bull 2006 Jul 21;70(3):197-202. Epub 2006 Jun 21.

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

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http://dx.doi.org/10.1016/j.brainresbull.2006.06.001DOI Listing
July 2006

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability.

Clin Dysmorphol 2006 Apr;15(2):95-9

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

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http://dx.doi.org/10.1097/01.mcd.0000203633.86190.2dDOI Listing
April 2006

Pharyngeal-cervical-brachial variant Guillain-Barré syndrome in a child.

J Child Neurol 2004 Aug;19(8):626-7

Department of Neurology, Sydney Children's Hospital, Australia.

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http://dx.doi.org/10.1177/088307380401900812DOI Listing
August 2004

Metabolic disorders and mental retardation.

Am J Med Genet C Semin Med Genet 2003 Feb;117C(1):31-41

Genetic Health Services, Victoria/Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia.

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http://doi.wiley.com/10.1002/ajmg.c.10018
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http://dx.doi.org/10.1002/ajmg.c.10018DOI Listing
February 2003