Lista de obras - Michael Fahey - Dominio Público Uruguay

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

artículo científico publicado en 2016

A new dominantly inherited pure cerebellar ataxia, SCA 30.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Bizarre eye movements in a newborn

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Clinician Perspectives of Chronic Pain Management in Children and Adolescents with Cerebral Palsy and Dyskinesia

artículo científico publicado en 2020

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

artículo científico publicado en 2014

Cobb syndrome: a case report and systematic review of the literature.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Could cord blood cell therapy reduce preterm brain injury?

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

artículo científico

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico

Fat-Bone Interactions in Adults With Spina Bifida.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Fetal hypoxia-ischaemia: wrong time, wrong place

artículo científico publicado en 2019

Floppy baby

artículo científico publicado en 2015

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

artículo científico

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

artículo científico publicado en 2004

How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.

artículo científico publicado en 2006

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

scientific article published on 04 September 2018

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Investigating the impact of severe maternal SARS-CoV-2 infection on infant DNA methylation and neurodevelopment

artículo científico publicado en 2024

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

artículo científico publicado en 2020

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

artículo científico publicado en 2008

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

artículo científico publicado en 2013

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

scientific article published on 01 December 2007

Optimizing bone health in cerebral palsy across the lifespan

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Pharmacological treatments for Friedreich ataxia.

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

Preterm Hypoxic-Ischemic Encephalopathy

artículo científico publicado en 2016

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

scientific article published on 22 June 2019

Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?

artículo científico publicado en 2007

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

scientific article published on 01 October 2011

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

artículo científico publicado en 2012

Rotavirus cerebellitis: new aspects to an old foe?

scientific article published on 01 January 2012

Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.

artículo científico publicado en 2012

Saccadic trajectory in Huntington's disease

artículo científico publicado en 2006

Seizures in Children With Cerebral Palsy and White Matter Injury

artículo científico publicado en 2017

Short case: Gait examination

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

article

Stem cells: Research tools and clinical treatments ⬇️

artículo científico publicado el 1 de septiembre de 2011

Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study.

artículo científico publicado en 2012

Suicide in frontotemporal dementia and Huntington disease: analysis of family-reported pedigree data and implications for genetic healthcare for asymptomatic relatives

scientific article published on 24 November 2020

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

artículo científico publicado en 2017

The eye examination

artículo científico publicado en 2015

The genetic basis of cerebral palsy

artículo científico publicado en 2017

The neuropsychiatry of Niemann-Pick type C disease in adulthood

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Towards an understanding of cognitive function in Friedreich ataxia

artículo científico publicado en 2006

Trabecular bone score in adults with cerebral palsy

scientific article published on 05 September 2018

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia

scientific article published on 30 January 2008

Lista de obras de Michael Fahey

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

A new dominantly inherited pure cerebellar ataxia, SCA 30.

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

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

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.

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

Bizarre eye movements in a newborn

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

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

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

Clinician Perspectives of Chronic Pain Management in Children and Adolescents with Cerebral Palsy and Dyskinesia

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

Cobb syndrome: a case report and systematic review of the literature.

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

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

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

Could cord blood cell therapy reduce preterm brain injury?

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

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

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

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

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

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

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

Fat-Bone Interactions in Adults With Spina Bifida.

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

Fetal hypoxia-ischaemia: wrong time, wrong place

Floppy baby

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

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

How is disease progress in Friedreich's ataxia best measured? A study of four rating scales.

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

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

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

Investigating the impact of severe maternal SARS-CoV-2 infection on infant DNA methylation and neurodevelopment

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

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

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

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

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

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

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations.

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

Optimizing bone health in cerebral palsy across the lifespan

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

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

Pharmacological treatments for Friedreich ataxia.

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

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

Preterm Hypoxic-Ischemic Encephalopathy

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

Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?

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

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

Rotavirus cerebellitis: new aspects to an old foe?

Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.

Saccadic trajectory in Huntington's disease

Seizures in Children With Cerebral Palsy and White Matter Injury

Short case: Gait examination

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

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

Stem cells: Research tools and clinical treatments ⬇️

Subcortical volumetric reductions in adult Niemann-Pick disease type C: a cross-sectional study.

Suicide in frontotemporal dementia and Huntington disease: analysis of family-reported pedigree data and implications for genetic healthcare for asymptomatic relatives

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

The eye examination

The genetic basis of cerebral palsy

The neuropsychiatry of Niemann-Pick type C disease in adulthood

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

Towards an understanding of cognitive function in Friedreich ataxia

Trabecular bone score in adults with cerebral palsy

Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia