D. O'Rourke

发表

Excessive Blinking and Ataxia in a Child With Occult Neuroblastoma and Voltage-Gated Potassium Channel Antibodies

M. King, A. O’Meara, A. McKeon, 2012, Pediatrics.

Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study

T. Sejersen, A. Childs, M. Walter, 2022, Journal of medical economics.

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language

M. King, C. Jakobs, G. Salomons, 2009, Developmental medicine and child neurology.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

J. Abdenur, M. Tassini, N. Dorison, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

Rasmussen's encephalitis presenting as focal cortical dysplasia

J. Madsen, A. Rotenberg, H. Lidov, 2014, Epilepsy & Behavior Case Reports.

Head bobbing due to succinic semialdehyde dehydrogenase deficiency

M. King, S. Ryan, D. O'Rourke, 2010, Neurology.

Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies

A. Poduri, M. Takeoka, C. E. El Achkar, 2017, Epilepsy & Behavior Case Reports.

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings

F. Muntoni, C. Sewry, B. Linnane, 2022, Neuromuscular Disorders.

Neurological involvement in children with hemolytic uremic syndrome

R. Cunney, R. Drew, A. Shahwan, 2021, European Journal of Pediatrics.

Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy

A. Childs, M. Prasad, T. Willis, 2021, Archives of Disease in Childhood.

Infantile onset ascending hereditary spastic paralysis

D. O'Rourke, F. Sharif, A. Eltoum, 2022, BMJ Case Reports.

Infant botulism due to C. butyricum type E toxin: a novel environmental association with pet terrapins

R. Cunney, B. Lynch, C. Cosgrove, 2014, Epidemiology and Infection.

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

M. Schroth, D. Zafeiriou, Y. Chien, 2021, Neuromuscular Disorders.

Possible toxicity following embolization of congenital giant vertex hemangioma: case report.

M. King, D. Murray, A. O'Hare, 2017, Journal of neurosurgery. Pediatrics.

Neuroimaging of Fetal Infection

M. L. Rossi, L. Tychsen, M. Recio, 2017, Journal of Pediatric Neurology.

The Temple Star Transitional Model of Care for epilepsy; the outcome of a quality improvement project

S. McNulty, S. Byrne, M. King, 2018, Epilepsy & Behavior.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

M. King, S. Lynch, D. O'Rourke, 2012, Clinical dysmorphology.

A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial

R. Finkel, K. Mathews, J. Statland, 2021, Journal of neuromuscular diseases.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

T. Hortobágyi, F. Baas, E. Aronica, 2014, Orphanet Journal of Rare Diseases.

Response to treatment and outcomes of infantile spasms in Down syndrome

M. King, S. Lynch, B. Lynch, 2022, Developmental medicine and child neurology.

Leukoencephalopathy with Anterior Temporal Cysts Due to Congenital CMV Infection Diagnosed Retrospectively

M. King, S. Ryan, D. O'Rourke, 2008, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.

N. Brown, S. Ellard, M. Broly, 2022, American journal of human genetics.

Room to improve: The diagnostic journey of Spinal Muscular Atrophy.

D. O'Rourke, Michael Carter, A. Tobin, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Infantile onset ascending hereditary spastic paralysis

D. O'Rourke, F. Sharif, A. Eltoum, 2020, BMJ Case Reports.

Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT ‐related mitochondrial disease

I. Knerr, Caoimhe Howard, D. O'Rourke, 2022, JIMD Reports.

Benign intracranial hypertension associated with inhaled corticosteroids in a child with asthma

J. Trayer, B. Elnazir, D. O'Rourke, 2021, BMJ case reports.

Excessive Blinking and Ataxia in a Child With Occult Neuroblastoma and Voltage-Gated Potassium Channel Antibodies

M. King, A. McKeon, N. Allen, 2012, Pediatrics.