Michael Fahey

Fetal hypoxia-ischaemia: wrong time, wrong place

Michael Fahey

Journal article  |  2019  |  Developmental Medicine & Child Neurology

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Journal of Clinical Medicine

PNPT1 (PNPase-polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic patho..

Interventions for idiopathic toe walking.

Antoni J Caserta, Verity Pacey, Michael Fahey, Kelly Gray, Raoul Hh Engelbert, Cylie M Williams

Journal article  |  2019  |  Cochrane Database of Systematic Reviews

BACKGROUND: Idiopathic toe walking (ITW) is an exclusionary diagnosis given to healthy children who persist in walking on their to..

Umbilical cord blood versus mesenchymal stem cells for inflammation-induced preterm brain injury in fetal sheep

Madison CB Paton, Beth J Allison, Michael C Fahey, Jingang Li, Amy E Sutherland, Yen Pham, Ilias Nitsos, Robert J Bischof, Timothy J Moss, Graeme R Polglase, Graham Jenkin, Suzanne L Miller, Courtney A McDonald

Journal article  |  2019  |  Pediatric Research

BACKGROUND: Chorioamnionitis and fetal inflammation are principal causes of neuropathology detected after birth, particularly in v..

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

Anne Trinh, Phillip Wong, Michael C Fahey, Justin Brown, Boyd J Strauss, Peter R Ebeling, Peter J Fuller, Frances Milat

Journal article  |  2019  |  Clinical Endocrinology

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Alastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, Michael Fahey, Richard J Leventer, Sarah McIntyre, Hilla Ben-Pazi, Mark Corbett, Xiaoyang Wang, Gareth Baynam, Darcy Fehlings, Manju A Kurian, Changlian Zhu, Kate Himmelmann, Hayley Smithers-Sheedy, Yana Wilson, Carlos Santos Ocana, Clare van Eyk, Nadia Badawi, Richard F Wintle, et al.

Journal article  |  2019  |  Journal of Child Neurology

Protect-me: a parallel-group, triple blinded, placebo-controlled randomised clinical trial protocol assessing antenatal maternal melatonin supplementation for fetal neuroprotection in early-onset fetal growth restriction.

Kirsten R Palmer, Joanne C Mockler, Miranda L Davies-Tuck, Suzanne L Miller, Stacy K Goergen, Michael C Fahey, Peter J Anderson, Katie M Groom, Euan M Wallace

Journal article  |  2019  |  BMJ Open

INTRODUCTION: Fetal growth restriction (FGR) is a serious pregnancy complication, associated with increased rates of perinatal dea..

Intranasal Delivery of Mesenchymal Stromal Cells Protects against Neonatal Hypoxic-Ischemic Brain Injury

Courtney A McDonald, Zlatikha Djuliannisaa, Maria Petraki, Madison CB Paton, Tayla R Penny, Amy E Sutherland, Margie Castillo-Melendez, Iona Novak, Graham Jenkin, Michael C Fahey, Suzanne L Miller

Journal article  |  2019  |  International Journal of Molecular Sciences

Cerebral palsy (CP) is a permanent motor disorder that results from brain injury and neuroinflammation during the perinatal period..

Human Umbilical Cord Therapy Improves Long-Term Behavioral Outcomes Following Neonatal Hypoxic Ischemic Brain Injury

Tayla R Penny, Amy E Sutherland, Jamie G Mihelakis, Madison CB Paton, Yen Pham, Joohyung Lee, Nicole M Jones, Graham Jenkin, Michael C Fahey, Suzanne L Miller, Courtney A McDonald

Journal article  |  2019  |  Frontiers in Physiology

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

Tanya L Medley, Christina Miteff, Ian Andrews, Tyson Ware, Michael Cheung, Paul Monagle, Simone Mandelstam, Alison Wray, Clair Pridmore, Christopher Troedson, Russell C Dale, Michael Fahey, Adriane Sinclair, Peter Walsh, Belinda Stojanovski, Mark T MacKay

Journal article  |  2019  |  International Journal of Stroke

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

Atul Malhotra, Margie Castillo-Melendez, Beth J Allison, Amy E Sutherland, Ilias Nitsos, Yen Pham, Anna K Alves de Alencar Rocha, Michael C Fahey, Graeme R Polease, Graham Jenkin, Suzanne L Miller

Journal article  |  2018  |  American Journal of Physiology-Regulatory, Integrative and Comparative Physiology

Fetal growth restriction (FGR) and prematurity are associated with high risk of brain injury and long-term neurological deficits. ..

Trabecular bone score in adults with cerebral palsy

A Trinh, P Wong, MC Fahey, PR Ebeling, PJ Fuller, F Milat

Journal article  |  2018  |  Bone

Resolution of fetal second-degree atrioventricular block

Alex Newbury, Michael Fahey

Journal article  |  2018  |  Journal of Electrocardiology

Diagnosing cerebral palsy in full-term infants

Catherine Morgan, Michael Fahey, Bithi Roy, Iona Novak

Journal article  |  2018  |  Journal of Paediatrics and Child Health

More than 50% of infants with cerebral palsy (CP) are born at or near term, with the vast majority having pre- or perinatally acqu..

Onabotulinum toxin-A (Botox) for spastic equinus in cerebral palsy: a prospective kinematic study

T Hastings-Ison, M Sangeux, P Thomason, B Rawicki, M Fahey, HK Graham

Conference Proceedings  |  2018  |  Journal of Children's Orthopaedics

Twin-to-twin transfusion syndrome neurodevelopmental follow-up study (neurodevelopmental outcomes for children whose twin-to-twin transfusion syndrome was treated with placental laser photocoagulation)

Christie Bolch, Michael Fahey, Dinah Reddihough, Katrina Williams, Susan Reid, Angela Guzys, Stephen Cole, Andrew Edwards, Alison Fung, Ryan Hodges, Ricardo Palma-Dias, Mark Teoh, Susan Walker

Journal article  |  2018  |  BMC Pediatrics

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

Yael Prawer, Matthew Hunter, Sara Cronin, Ling Ling, Solange Aliaga Vera, Michael Fahey, Nikki Gelfand, Ralph Oertel, Essra Bartlett, David Francis, David Godler

Journal article  |  2018  |  Genes

Systemic and transdermal melatonin administration prevents neuropathology in response to perinatal asphyxia in newborn lambs

James DS Aridas, Tamara Yawno, Amy E Sutherland, Ilias Nitsos, Michael Ditchfield, Flora Y Wong, Rod W Hunt, Michael C Fahey, Atul Malhotra, Euan M Wallace, Graham Jenkin, Suzanne L Miller

Journal article  |  2018  |  Journal of Pineal Research

Effects of umbilical cord blood cells, and subtypes, to reduce neuroinflammation following perinatal hypoxic-ischemic brain injury

Courtney A McDonald, Tayla R Penny, Madison CB Paton, Amy E Sutherland, Lakshmi Nekkanti, Tamara Yawno, Margie Castillo-Melendez, Michael C Fahey, Nicole M Jones, Graham Jenkin, Suzanne L Miller

Journal article  |  2018  |  Journal of Neuroinflammation

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

Tanja Spencer, Sara Aldous, Gavin Williams, Michael Fahey

Journal article  |  2018  |  Brain Injury

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

Courtney A McDonald, Michael C Fahey, Graham Jenkin, Suzanne L Miller

Journal article  |  2018  |  Pediatric Research

Cerebral palsy is the most common cause of physical disability in children, and there is no cure. Umbilical cord blood (UCB) cell ..

Human Umbilical Cord Blood Therapy Protects Cerebral White Matter from Systemic LPS Exposure in Preterm Fetal Sheep

Madison CB Paton, Beth J Allison, Jingang Li, Michael C Fahey, Amy E Sutherland, Ilias Nitsos, Robert J Bischof, Justin M Dean, Timothy JM Moss, Graeme R Polglase, Graham Jenkin, Courtney A McDonald, Suzanne L Miller

Journal article  |  2018  |  Developmental Neuroscience

Fat-Bone Interactions in Adults With Spina Bifida

Anne Trinh, Phillip Wong, Anuradha Sakthivel, Michael C Fahey, Sabine Hennel, Justin Brown, Boyd J Strauss, Peter R Ebeling, Peter J Fuller, Frances Milat

Journal article  |  2017  |  Journal of the Endocrine Society

The Beneficial Effects of Melatonin Administration Following Hypoxia-Ischemia in Preterm Fetal Sheep

Tamara Yawno, Mawin Mahen, Jingang Li, Michael C Fahey, Graham Jenkin, Suzanne L Miller

Journal article  |  2017  |  Frontiers in Cellular Neuroscience

Early, Accurate Diagnosis and Early Intervention in Cerebral Palsy Advances in Diagnosis and Treatment

Iona Novak, Cathy Morgan, Lars Adde, James Blackman, Roslyn N Boyd, Janice Brunstrom-Hernandez, Giovanni Cioni, Diane Damiano, Johanna Darrah, Ann-Christin Eliasson, Linda S de Vries, Christa Einspieler, Michael Fahey, Darcy Fehlings, Donna M Ferriero, Linda Fetters, Simona Fiori, Hans Forssberg, Andrew M Gordon, Susan Greaves, et al.

Journal article  |  2017  |  JAMA Pediatrics

Ganaxolone : A New Treatment for Neonatal Seizures

Tamara Yawno, Suzie L Miller, Laura Bennet, Flora Wong, Jonathan J Hirst, Michael Fahey, David W Walker

Journal article  |  2017  |  Frontiers in Cellular Neuroscience

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

Atul Malhotra, Michael Ditchfield, Michael C Fahey, Margie Castillo-Melendez, Beth J Allison, Graeme R Polglase, Euan M Wallace, Ryan Hodges, Graham Jenkin, Suzanne L Miller

Journal article  |  2017  |  Pediatric Research

Fetal growth restriction (FGR) is a common complication of pregnancy and, in severe cases, is associated with elevated rates of pe..

Comparison of preterm and term equivalent age MRI for the evaluation of preterm brain injury

A Malhotra, MC Fahey, M Davies-Tuck, F Wong, E Carse, G Whiteley, M Ditchfield

Journal article  |  2017  |  Journal of Perinatology

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel CE Burton, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begona De Azua, Valentina De Giorgis, Christian GL De Goede, Isabelle Desguerre, Corinne De laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay, et al.

Journal article  |  2017  |  Neuropediatrics

We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mu..

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

Alice Robinson, Mark Teoh, Andrew Edwards, Michael Fahey, Stacy Goergen

Journal article  |  2017  |  Prenatal Diagnosis

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

Maie Walsh, Katrina M Bell, Belinda Chong, Emma Creed, Gemma R Brett, Kate Pope, Natalie P Thorne, Simon Sadedin, Peter Georgeson, Dean G Phelan, Timothy Day, Jessica A Taylor, Adrienne Sexton, Paul J Lockhart, Lynette Kiers, Michael Fahey, Ivan Macciocca, Clara L Gaff, Alicia Oshlack, Eppie M Yiu, et al.

Journal article  |  2017  |  Annals of Clinical and Translational Neurology

The genetic basis of cerebral palsy

Michael C Fahey, Alastair H Maclennan, Doris Kretzschmar, Jozef Gecz, Michael C Kruer

Journal article  |  2017  |  Developmental Medicine & Child Neurology

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

Madison CB Paton, Courtney A McDonald, Beth J Allison, Michael C Fahey, Graham Jenkin, Suzanne L Miller

Journal article  |  2017  |  Frontiers in Neuroscience

Seizures in Children With Cerebral Palsy and White Matter Injury

Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey

Journal article  |  2017  |  Pediatrics

Optimizing bone health in cerebral palsy across the lifespan

Anne Trinh, Michael C Fahey, Justin Brown, Peter J Fuller, Frances Milat

Journal article  |  2017  |  Developmental Medicine & Child Neurology

Preterm Hypoxic-ischemic encephalopathy

Krishna Revanna Gopagondanahalli, Jingang Li, Michael C Fahey, Rod W Hunt, Graham Jenkin, Suzanne L Miller, Atul Malhotra

Journal article  |  2016  |  Frontiers in Pediatrics

Bizarre eye movements in a newborn

Thomas Forbes, Atul Malhotra, Michael Fahey, Chris Smith

Journal article  |  2016  |  Journal of Paediatrics and Child Health

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

Iona Novak, Karen Walker, Rod W Hunt, Euan M Wallace, Michael Fahey, Nadia Badawi

Journal article  |  2016  |  STEM CELLS Translational Medicine

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

Tandy Hastings-Ison, Christine Blackburn, Barry Rawicki, Michael Fahey, Pam Simpson, Richard Baker, Kerr Graham

Journal article  |  2016  |  Developmental Medicine & Child Neurology

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

Belinda Lipscombe, Roslyn N Boyd, Andrea Coleman, Michael Fahey, Barry Rawicki, Koa Whittingham

Journal article  |  2016  |  Research in Developmental Disabilities

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

Stephanie Baber, Joanne Michalitsis, Michael Fahey, Barry Rawicki, Terry Haines, Cylie Williams

Journal article  |  2016  |  The Journal of Pediatrics

Cord blood mononuclear cells prevent neuronal apoptosis in response to perinatal asphyxia in the newborn lamb

James DS Aridas, Courtney A McDonald, Madison CB Paton, Tamara Yawno, Amy E Sutherland, Ilias Nitsos, Yen Pham, Michael Ditchfield, Michael C Fahey, Flora Wong, Atul Malhotra, Margie Castillo-Melendez, Kishore Bhakoo, Euan M Wallace, Graham Jenkin, Suzanne L Miller

Journal article  |  2016  |  The Journal of Physiology

Musculoskeletal and Endocrine Health in Adults With Cerebral Palsy: New Opportunities for Intervention

A Trinh, P Wong, MC Fahey, J Brown, A Churchyard, BJ Strauss, PR Ebeling, PJ Fuller, F Milat

Journal article  |  2016  |  The Journal of Clinical Endocrinology & Metabolism

Pharmacological treatments for Friedreich ataxia

Mary Kearney, Richard W Orrell, Michael Fahey, Ruth Brassington, Massimo Pandolfo

Journal article  |  2016  |  Cochrane Database of Systematic Reviews

Short case: Gait examination

Michael Fahey, Don Adsett

Journal article  |  2015  |  Journal of Paediatrics and Child Health

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

Michael Fahey

Journal article  |  2015  |  Developmental Medicine & Child Neurology

The eye examination

Michael Fahey

Journal article  |  2015  |  Journal of Paediatrics and Child Health

A study of up to 12 years of follow-up of Friedreich ataxia utilising four measurement tools

Geneieve Tai, Louise A Corben, Lyle Gurrin, Eppie M Yiu, Andrew Churchyard, Michael Fahey, Brian Hoare, Sharon Downie, Martin B Delatycki

Journal article  |  2015  |  Journal of Neurology, Neurosurgery & Psychiatry

Floppy baby

Michael Fahey

Journal article  |  2015  |  Journal of Paediatrics and Child Health

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

Tejaswi Kandula, Michael Fahey, Rebecca Chalmers, Andrew Edwards, Paul Shekleton, Mark Teoh, Jenni Clark, Stacy K Goergen

Journal article  |  2015  |  Journal of Medical Imaging and Radiation Oncology

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella MA 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, et al.

Journal article  |  2015  |  American Journal of Medical Genetics Part A

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

James DS Aridas, Tamara Yawno, Amy E Sutherland, Ilias Nitsos, Michael Ditchfield, Flora Y Wong, Michael C Fahey, Atul Malhotra, Euan M Wallace, Graham Jenkin, Suzanne L Miller

Journal article  |  2014  |  Experimental Neurology

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

Tejaswi Kandula, Heidi Peters, Michael Fahey

Journal article  |  2014  |  Journal of Clinical Neuroscience

Could cord blood cell therapy reduce preterm brain injury?

Jingang Li, Courtney A McDonald, Michael C Fahey, Graham Jenkin, Suzanne L Miller

Journal article  |  2014  |  Frontiers in Neurology

The Role of Magnetic Resonance Imaging in Isolated Fetal Cerebral Ventriculomegaly

T Kandula, J Clark, M Fahey, S Goergen

Conference Proceedings  |  2013  |  ANNALS OF NEUROLOGY

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

M Walterfang, B Patenaude, LA Abel, H Kluenemann, EA Bowman, MC Fahey, P Desmond, W Kelso, D Velakoulis

Journal article  |  2013  |  American Journal of Neuroradiology

Australian Cerebral Palsy Child Study: protocol of a prospective population based study of motor and brain development of preschool aged children with cerebral palsy

Roslyn N Boyd, Rachel Jordan, Laura Pareezer, Anne Moodie, Christine Finn, Belinda Luther, Evyn Arnfield, Aaron Pym, Alex Craven, Paula Beall, Kelly Weir, Megan Kentish, Meredith Wynter, Robert Ware, Michael Fahey, Barry Rawicki, Lynne McKinlay, Andrea Guzzetta

Journal article  |  2013  |  BMC Neurology

Reported Eating Ability of Young Children With Cerebral Palsy: Is There an Association With Gross Motor Function?

Kelly A Weir, Kristie L Bell, Fiona Caristo, Robert S Ware, Peter S Davies, Michael Fahey, Barry Rawicki, Roslyn N Boyd

Journal article  |  2013  |  Archives of Physical Medicine and Rehabilitation

Evidence-based guideline for the written radiology report: Methods, recommendations and implementation challenges

Stacy K Goergen, Felicity J Pool, Tari J Turner, Jane E Grimm, Mark N Appleyard, Carmel Crock, Michael C Fahey, Michael F Fay, Nicholas J Ferris, Susan M Liew, Richard D Perry, Ann Revell, Grant M Russell, Shih-chang SC Wang, Christian Wriedt

Journal article  |  2013  |  Journal of Medical Imaging and Radiation Oncology

NIEMANN-PICK DISEASE TYPE C (NP-C) SUSPICION INDEX (SI) TOOL: FURTHER ANALYSES BY AGE AND ASSOCIATIONS BY LEADING SYMPTOMS

F Sedel, M Walterfang, M Fahey, CJ Hendriksz, M Pineda, FA Wijburg, MC Patterson, H Chadha-Boreham, SA Kolb, JE Wraith

Conference Proceedings  |  2012  |  JOURNAL OF INHERITED METABOLIC DISEASE

Governance and Assessment in a Widely Distributed Medical Education Program in Australia

Geoff Solarsh, Jennifer Lindley, Gordon Whyte, Michael Fahey, Amanda Walker

Journal article  |  2012  |  Academic Medicine

Antioxidants and other pharmacological treatments for Friedreich ataxia

Mary Kearney, Richard W Orrell, Michael Fahey, Massimo Pandolfo

Journal article  |  2012  |  The Cochrane Database of Systematic Reviews

Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C

M Walterfang, MD Macfarlane, JCL Looi, L Abel, E Bowman, MC Fahey, P Desmond, D Velakoulis

Journal article  |  2011  |  European Journal of Neurology

Picture this: brain matter changes in NP-C

M Walterfang, M Fahey, L Abel, P Desmond, D Velakoulis

Conference Proceedings  |  2011  |  European Neuropsychopharmacology

Stem cells: Research tools and clinical treatments

Michael C Fahey, Euan M Wallace

Journal article  |  2011  |  Journal of Paediatrics and Child Health

WHITE AND GRAY MATTER ALTERATIONS IN ADULTS WITH NIEMANN-PICK DISEASE TYPE C: A CROSS-SECTIONAL STUDY Reply

MA Walterfang, M Fahey, A Wood, P Desmond, D Velakoulis

Journal article  |  2011  |  Neurology

WHITE AND GRAY MATTER ALTERATIONS IN ADULTS WITH NIEMANN-PICK DISEASE TYPE C: A CROSS-SECTIONAL STUDY

M Scheel, M Abegg, LJ Lanyon, A Mattman, JJ Barton

Journal article  |  2011  |  Neurology

SUSPICION INDEX TO AID DIAGNOSIS OF NIEMANN-PICK TYPE C DISEASE (NP-C), AN AUTOSOMAL RECESSIVE NEUROVISCERAL DISORDER

FA Wijburg, F Sedel, M Pineda, CJ Hendriksz, M Fahey, M Walterfang, MC Patterson, JE Wraith

Conference Proceedings  |  2011  |  JOURNAL OF INHERITED METABOLIC DISEASE

The relationship between motor abilities and early social development in a preschool cohort of children with cerebral palsy

Koa Whittingham, Michael Fahey, Barry Rawicki, Roslyn Boyd

Journal article  |  2010  |  Research in Developmental Disabilities

Antioxidants and other pharmacological treatments for Friedreich ataxia.

Mary Kearney, Richard W Orrell, Michael Fahey, Massimo Pandolfo

Journal article  |  2009  |  Cochrane Database of Systematic Reviews

BACKGROUND: Friedreich ataxia is a rare inherited, autosomal recessive, neurological disorder characterised initially by unsteadin..

Randomised trial of ascorbic add for Charcot-Marie-Tooth disease type 1A in children

J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, MM Ryan

Conference Proceedings  |  2009  |  Journal of the Neurological Sciences

RANDOMIZED TRIAL OF ASCORBIC ACID FOR CMT1A IN CHILDREN

J Burns, MM Ryan, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, RA Ouvrier

Conference Proceedings  |  2009  |  JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

A Comparison of Echocardiographic Techniques in Determination of Arterial Elasticity in the Pediatric Population

Michael Fahey, H Helen Ko, Shubhika Srivastava, Wyman W Lai, MPH Samprit Chatterjee, Ira A Parness, Irene D Lytrivi

Journal article  |  2009  |  Echocardiography

A new dominantly inherited pure cerebellar ataxia, SCA 30

E Storey, M Bahlo, M Fahey, O Sisson, CJ Lueck, RJM Gardner

Journal article  |  2009  |  Journal of Neurology, Neurosurgery and Psychiatry

Antioxidants and other pharmacological treatments for Friedreich ataxia

Mary Kearney, Richard W Orrell, Michael Fahey, Massimo Pandolfo

Journal article  |  2009  |  Cochrane database of systematic reviews (Online)

Cobb Syndrome: A Case Report and Systematic Review of the Literature

Marissa Tubridy Clark, Emma L Brooks, Winston Chong, Chris Pappas, Michael Fahey

Journal article  |  2008  |  Pediatric Neurology

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

Michael C Fahey, Phillip D Cremer, Sweet Aw, Lynette Millist, Michael J Todd, Owen B White, Michael Halmagyi, Louise A Corben, Veronica Collins, Andrew J Churchyard, Kim Tan, Lionel Kowal, Martin B Delatycki

Journal article  |  2008  |  Brain

A new autosomal dominant pure cerebellar ataxia - Maps to chromosome 4q34.3-q35.1

Elsdon Storey, Oliver Sisson, Michael C Fahey, Christian J Lueck, Melanie Bahlo, RJ McKinlay Gardner

Conference Proceedings  |  2008  |  NEUROLOGY

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

Nigel F Clarke, Hanna Kolski, Danielle E Dye, Esther Lim, Robert LL Smith, Rakesh Patel, Michael C Fahey, Remi Bellance, Norma B Romero, Edward S Johnson, Annick Labarre-Vila, Nicole Monnier, Nigel G Laing, Kathryn N North

Journal article  |  2008  |  Annals of Neurology

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Nisha Limaye, N Revencu, N Van Regemorter, M Garzon, M Bonduelle, W Chung, MD Daras, MC Fahey, C Garrett, Y Gillerot, G Gillessen-Kaesbach, A Giménez-Arnau, F Guzzetta, D Battaglia, K Heimdal, W Lissens, E Taub, L Van Maldergem, W Van Paesschen, D Wieczorek, et al.

Journal article  |  2007  |  Human genetics

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Nisha Limaye, N Revencu, N Van Regemorter, M Garzon, M Bonduelle, W Chung, MD Daras, MC Fahey, C Garrett, Y Gillerot, G Gillessen-Kaesbach, A Giménez-Arnau, F Guzzetta, D Battaglia, K Heimdal, W Lissens, E Taub, L Van Maldergem, W Van Paesschen, D Wieczorek, et al.

Journal article  |  2007  |  Human genetics

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Nisha Limaye, N Revencu, N Van Regemorter, M Garzon, M Bonduelle, W Chung, MD Daras, MC Fahey, C Garrett, Y Gillerot, G Gillessen-Kaesbach, A Giménez-Arnau, F Guzzetta, D Battaglia, K Heimda, W Lissens, E Taub, L Van Maldergem, W Van Paesschen, D Wieczorek, et al.

Journal article  |  2007  |  Human genetics

Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Nisha Limaye, N Revencu, N Van Regemorter, M Garzon, M Bonduelle, W Chung, MD Daras, MC Fahey, C Garrett, Y Gillerot, G Gillessen-Kaesbach, A Giménez-Arnau, F Guzzetta, D Battaglia, K Heimdal, W Lissens, E Taub, L Van Maldergem, W Van Paesschen, D Wieczorek, et al.

Journal article  |  2007  |  Human genetics

TPM3 is a recurrent cause of congenital fibre type disproportion and is associated with a consistent phenotype

N Clarke, H Kolski, D Dye, E Lim, R Smith, R Patel, M Fahey, N Laing, K North

Conference Proceedings  |  2007  |  Neuromuscular Disorders

The neuropsychiatry of adrenomyeloneuropathy

Mark A Walterfang, John O'Donovan, Michael C Fahey, Dennis Velakoulis

Journal article  |  2007  |  CNS Spectrums

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 article  |  2007  |  Journal of Neurology, Neurosurgery and Psychiatry

The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia

MC Fahey, LA Corben, V Collins, AJ Churchyard, MB Delatycki

Journal article  |  2007  |  Neurology

Towards an understanding of cognitive function in Friedreich ataxia

Louise A Corben, Nellie Georgiou-Karistianis, Michael C Fahey, Elsdon Storey, Andrew Churchyard, Malcolm Horne, John L Bradshaw, Martin B Delatycki

Journal article  |  2006  |  Brain Research Bulletin

The sleep disturbance scale for children (Bruni) does not predict hypoventilation during sleep in Duchenne Muscular Dystrophy

Adrienne Moline, Bruce Williamson, Arthur Teng, Grant Betts, Robyn Pedersen, Michael Fahey, Heather Johnston

Conference Proceedings  |  2006  |  NEUROMUSCULAR DISORDERS

The neuropsychiatry of Niemann-Pick type C disease in adulthood

Mark Walterfang, Michael Fietz, Michael Fahey, Danny Sullivan, Pamela Leane, Dan I Lubman, Dennis Velakoulis

Journal article  |  2006  |  Journal of Neuropsychiatry and Clinical Neurosciences

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

MC Fahey, MA Knight, JH Shaw, RJM Gardner, D du Sart, PJ Lockhart, MB Delatycki, PC Gates, E Storey

Journal article  |  2005  |  Journal of Neurology, Neurosurgery and Psychiatry

Assessment of motor processing in Friedreich Ataxia

LA Corben, N Gcorgiou-Karistianis, JL Bradshaw, MC Fahey, V Collins, MB Delatycki

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Friedreich Ataxia: disease progression, natural history and tools to measure disease severity

MC Fahey, L Corben, A Churchyard, MB Delatycki

Conference Proceedings  |  2005  |  JOURNAL OF THE NEUROLOGICAL SCIENCES

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent

A Vinton, MC Fahey, TJ O'Brien, J Shaw, E Storey, RJM Gardner, PJ Mitchell, D Du Sart, JO King

Journal article  |  2005  |  American Journal of Medical Genetics

Friedreich ataxia

MB Delatycki, MC Fahey, L Corben, A Churchyard

Book Chapter  |  2005

Pharyngeal-cervical-brachial variant Guillain-Barre syndrome in a child

SC MacLennan, MC Fahey, JA Lawson

Journal article  |  2004  |  Journal of Child Neurology

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, MB Delatycki, M Fahey, A Baxendale, S White, E Haan, K Gibson, JL Halliday, A Bankier

Journal article  |  2004  |  American Journal of Medical Genetics