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Author Details

Susan Byrne
Royal College of Surgeons in Ireland
2010
76
31
Prashant Mali (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37164483Fifteen-minute consultation: Management of primary headaches in children.Arch Dis Child Educ Pract Ed2024
36860280Case report: Varicella associated neuropsychiatric syndrome (VANS) in two pediatric cases.Brain Behav Immun Health2023
35803699Fifteen-minute consultation: Diagnosing serious pathology in children with headaches presenting to the emergency department.Arch Dis Child Educ Pract Ed2023
34130600The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.Autophagy2022
36989010PRRT2- Associated Paroxysmal Kinesigenic Dyskinesia Only Evident with High-Speed Cricket Bowling.Mov Disord Clin Pract2022
35012935Challenges of implementation of the RCPCH paediatric stroke guidelines (acute management component) and how they can be overcome.Arch Dis Child2022
35338733Allergy-related outcomes at 12 months in the CORAL birth cohort of Irish children born during the first COVID 19 lockdown.Pediatr Allergy Immunol2022
34824091Paediatric tic-like presentations during the COVID-19 pandemic.Arch Dis Child2022
32404438RCPCH Stroke in Childhood Guidelines: how well are these being followed?Arch Dis Child2021
33850037Systemic Inflammation Is Associated With Neurologic Involvement in Pediatric Inflammatory Multisystem Syndrome Associated With SARS-CoV-2.Neurol Neuroimmunol Neuroinflamm2021
34021056Use of Disease-Modifying Therapies in Pediatric Relapsing-Remitting Multiple Sclerosis in the United Kingdom.Neurol Neuroimmunol Neuroinflamm2021
34089185Precision therapy in the genetic epilepsies of childhood.Dev Med Child Neurol2021
33435571CHD2-Related CNS Pathologies.Int J Mol Sci2021
33332607Pediatric Ischemic Stroke: An Infrequent Complication of SARS-CoV-2.Ann Neurol2021
31467149Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia.Pract Neurol2020
33182341Progress in the Management of Paediatric-Onset Multiple Sclerosis.Children (Basel)2020
32238909A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.Eur J Hum Genet2020
29082790Timing of administration of antenatal magnesium sulfate and umbilical cord blood magnesium levels in preterm babies.J Matern Fetal Neonatal Med2019
31380988Tackling Epilepsy With High-definition Precision Medicine: A Review.JAMA Neurol2019
29223006The Temple Star Transitional Model of Care for epilepsy; the outcome of a quality improvement project.Epilepsy Behav2018
29904861Trigeminal autonomic cephalalgias in children and adolescents.Neurol Sci2018
28748650Autopsy findings in EPG5-related Vici syndrome with antenatal onset.Am J Med Genet A2017
29049464Clustering of Neuropsychiatric Disease in First-Degree and Second-Degree Relatives of Patients With Amyotrophic Lateral Sclerosis.JAMA Neurol2017
28593402Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas.J Neurooncol2017
26927810Vici syndrome: a review.Orphanet J Rare Dis2016
27382027An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.Sci Signal2016
27343258Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.Brain2016
26917586EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Brain2016
26715604Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Brain2016
23521864White matter disease and an incomplete circle of Willis.Int J Stroke2015
26949444Crispr-mediated Gene Targeting of Human Induced Pluripotent Stem Cells.Curr Protoc Stem Cell Biol2015
26236759Earlier treatment of NMDAR antibody encephalitis in children results in a better outcome.Neurol Neuroimmunol Neuroinflamm2015
26191419Anti-N-methyl-d-aspartate receptor encephalitis: review of clinical presentation, diagnosis and treatment.BJPsych Bull2015
25846562Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.Am J Med Genet A2015
25958341SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.Neuromuscul Disord2015
25620680Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.Genomics2015
25414332Multi-kilobase homozygous targeted gene replacement in human induced pluripotent stem cells.Nucleic Acids Res2015
25550416A multidisciplinary clinic approach improves survival in ALS: a comparative study of ALS in Ireland and Northern Ireland.J Neurol Neurosurg Psychiatry2015
25053771Patterns of cerebral and cerebellar white matter degeneration in ALS.J Neurol Neurosurg Psychiatry2015
25109940N-methyl-D-aspartate receptor antibody encephalitis: how much treatment is enough?Dev Med Child Neurol2015
23973441UBQLN2 mutations are not a frequent cause of amyotrophic lateral sclerosis in Ireland.Neurobiol Aging2014
25566546Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.Neurol Neuroimmunol Neuroinflamm2014
25403753Rapid neurogenesis through transcriptional activation in human stem cells.Mol Syst Biol2014
25398338Genome editing in human stem cells.Methods Enzymol2014
24984853CRISPR/Cas9-Directed Genome Editing of Cultured Cells.Curr Protoc Mol Biol2014
24867594An exploratory spatial analysis of ALS incidence in Ireland over 17.5 years (1995-July 2013).PLoS One2014
24878480Familial cerebral amyloid angiopathy due to the Iowa mutation in an Irish family.Can J Neurol Sci2014
24641688Does early treatment improve outcomes in N-methyl-D-aspartate receptor encephalitis?Dev Med Child Neurol2014
24344910Sexual dimorphism in ALS: exploring gender-specific neuroimaging signatures.Amyotroph Lateral Scler Frontotemporal Degener2014
24479554Fecundity in ALS.Amyotroph Lateral Scler Frontotemporal Degener2014
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Collaborators

Harvard Medical School
Co-authored papers 7
University of California San Diego
Co-authored papers 3
Harvard Medical School
Co-authored papers 3
FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
Co-authored papers 3
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 3
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
Co-authored papers 2
College of Resources and Environment, Southwest University
Co-authored papers 2
Beth Israel Deaconess Medical Center and Harvard Medical School
Co-authored papers 2
Co-authored papers 2
St. Vincent's University Hospital
Co-authored papers 2
Johns Hopkins University School of Medicine
Co-authored papers 1
Tufts Medical Center
Co-authored papers 1
Baylor College of Medicine
Co-authored papers 1
Johns Hopkins School of Medicine
Co-authored papers 1
Department of Food and Nutrition, Kongju National University
Co-authored papers 1
College of Engineering, Boston University
Co-authored papers 1
St James's Hospital
Co-authored papers 1
Co-authored papers 1
Co-authored papers 1
Guys and St Thomas' NHS Trust
Co-authored papers 1
Renaissance Computing Institute, University of North Carolina at Chapel Hill
Co-authored papers 1
Co-authored papers 1
Harvard Medical School
Co-authored papers 1
University of California San Diego
Co-authored papers 1
Harvard Medical School
Co-authored papers 1
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 1
University of Texas Southwestern Medical Center
Co-authored papers 1
University of California San Diego
Co-authored papers 1
Harvard University
Co-authored papers 1