Publications by authors named "Declan O'Rourke"

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Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort.
Susan Harvey, Nicholas M Allen, Susan Byrne, Bryan Lynch, Niamh McSweeney, Declan O'Rourke

Eur J Paediatr Neurol· March 2025

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Autosomal recessive -related disorder: comprehensive analysis of phenotypic variability and genetic mutations.
Sara Nagy, Alistair T Pagnamenta, Elisa Cali, Hilde M H Braakman, Juerd Wijntjes, Declan O'Rourke

Brain Commun· October 2024

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Stratifying risk of disease in haematuria patients using machine learning techniques to improve diagnostics.
Anna Drożdż, Brian Duggan, Mark W Ruddock, Cherith N Reid, Mary Jo Kurth, Declan O'Rourke

Front Oncol· May 2024

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Relationship Between Electroencephalography and Seizure Outcome in Typical Absence Seizures in Children.
Susan Harvey, Claire Thompson, Odette O'Flaherty, Louise Scott, Siobhan O'Malley, Declan O'Rourke

Pediatr Neurol· November 2023

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Ultrasound targeted microbubble destruction using docetaxel and Rose Bengal loaded Microbubbles for targeted Chemo-Sonodynamic therapy treatment of prostate cancer.
Thomas McKaig, Keiran Logan, Heather Nesbitt, Bridgeen Callan, Stephanie McKeown, Declan O'Rourke

Eur J Pharm Biopharm· November 2023

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Autonomic instability, arrhythmia and visual impairment in a new presentation of -related mitochondrial disease.
Caoimhe Howard, Arundhati Dev-Borman, John Stokes, Declan O'Rourke, Ciara Gillespie

JIMD Rep· March 2023

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Room to improve: The diagnostic journey of Spinal Muscular Atrophy.
Michael Carter, Andrea Tobin, Lucy Coy, Denise McDonald, Martina Hennessy, Declan O'Rourke

Eur J Paediatr Neurol· January 2023

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Clinical features and predictive biomarkers for bladder cancer in patients with type 2 diabetes presenting with haematuria.
Claire L Tonry, Raymond M Evans, Mark W Ruddock, Brian Duggan, Oonagh McCloskey, Declan O'Rourke

Diabetes Metab Res Rev· September 2022

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Biomarkers to assess the risk of bladder cancer in patients presenting with haematuria are gender-specific.
Brian Duggan, Declan O'Rourke, Neil Anderson, Cherith N Reid, Joanne Watt

Front Oncol· September 2022

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Bilateral paediatric optic nerve sheath meningioma.
Daire John Hurley, Shane Whitlow, Declan O'Rourke, Ian Flitcroft

BMJ Case Rep· August 2022

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Response to treatment and outcomes of infantile spasms in Down syndrome.
Susan Harvey, Nicholas M Allen, Mary D King, Bryan Lynch, Sally A Lynch, Declan O'Rourke

Dev Med Child Neurol· June 2022

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Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study.
Erik Landfeldt, Rongrong Zhang, Anne-Marie Childs, Jessika Johannsen, Declan O'Rourke

J Med Econ· June 2022

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Challenging times: Delivering gene therapies and an opportunity for shared learning.
Cormac Kennedy, Edel O'Dea, Derval Reidy, Jeremy Towns, Maria Pigott, Declan O'Rourke

Br J Clin Pharmacol· May 2022

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Declan O'Rourke

Am J Hum Genet· April 2022

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Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
Alberto A Zambon, François Abel, Barry Linnane, Declan O'Rourke, Rahul Phadke

Neuromuscul Disord· March 2022

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Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Vasantha Lakshmi Gowda, Miguel Fernandez, Manish Prasad, Anne-Marie Childs, Imelda Hughes, Declan O'Rourke

Arch Dis Child· February 2022

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Neurological involvement in children with hemolytic uremic syndrome.
Caoimhe Costigan, Tara Raftery, Anne G Carroll, Dermot Wildes, Claire Reynolds, Declan J O'Rourke

Eur J Pediatr· February 2022

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Infantile onset ascending hereditary spastic paralysis.
Ali Eltoum, Declan O'Rourke, Farhana Sharif

BMJ Case Rep· January 2022

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A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.
Richard S Finkel, Craig M McDonald, H Lee Sweeney, Erika Finanger, Erin Neil Knierbein, Declan O'Rourke

J Neuromuscul Dis· November 2021

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Exploiting a Rose Bengal-bearing, oxygen-producing nanoparticle for SDT and associated immune-mediated therapeutic effects in the treatment of pancreatic cancer.
Dean Nicholas, Heather Nesbitt, Sian Farrell, Keirin Logan, Eva McMullin, Declan O'Rourke

Eur J Pharm Biopharm· June 2021

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Benign intracranial hypertension associated with inhaled corticosteroids in a child with asthma.
James Trayer, Declan O'Rourke, Lorraine Cassidy, Basil Elnazir

BMJ Case Rep· May 2021

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X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.
Niamh Shaughnessy, Eva B Forman, Declan O'Rourke, Sally Ann Lynch, Bryan Lynch

Neuromuscul Disord· January 2020

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AKT/mTORC2 Inhibition Activates FOXO1 Function in CLL Cells Reducing B-Cell Receptor-Mediated Survival.
Emilio Cosimo, Anuradha Tarafdar, Michael W Moles, Ailsa K Holroyd, Natasha Malik, Declan O'Rourke

Clin Cancer Res· March 2019

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An early analysis of the cost-effectiveness of a diagnostic classifier for risk stratification of haematuria patients (DCRSHP) compared to flexible cystoscopy in the diagnosis of bladder cancer.
Andrew J Sutton, John V Lamont, R Mark Evans, Kate Williamson, Declan O'Rourke

PLoS One· February 2019

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Gemcitabine loaded microbubbles for targeted chemo-sonodynamic therapy of pancreatic cancer.
Heather Nesbitt, Yingjie Sheng, Sukanta Kamila, Keiran Logan, Keith Thomas, Declan O'Rourke

J Control Release· June 2018

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