Declan O'Rourke Selected Research

X-linked distal Arthrogryposis multiplex congenita

1/2020

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.

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Declan O'Rourke Research Topics

Disease

5	Neoplasms (Cancer) 01/2019 - 05/2012
3	Urinary Bladder Neoplasms (Bladder Cancer) 01/2022 - 05/2012
3	Pancreatic Neoplasms (Pancreatic Cancer) 06/2021 - 09/2017
2	Intellectual Disability (Idiocy) 01/2022 - 04/2009
2	Fibrosis (Cirrhosis) 01/2022 - 01/2021
2	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 01/2021
2	Hematuria 01/2013 - 05/2012
1	Juvenile Amyotrophic Lateral Sclerosis 2 01/2022
1	Muscle Cramp (Cramp) 01/2022
1	Hereditary Spastic Paraplegia 01/2022
1	Spastic Paraparesis 01/2022
1	Hypoventilation 01/2022
1	Type 2 Diabetes Mellitus (MODY) 01/2022
1	Hearing Loss (Hearing Impairment) 01/2022
1	Neurodevelopmental Disorders 01/2022
1	Down Syndrome (Down's Syndrome) 01/2022
1	Nemaline Myopathies (Nemaline Myopathy) 01/2022
1	Infantile Spasms (West Syndrome) 01/2022
1	Hypoxia (Hypoxemia) 06/2021
1	Asthma (Bronchial Asthma) 05/2021
1	Pseudotumor Cerebri (Idiopathic Intracranial Hypertension) 05/2021
1	Disease Progression 01/2021
1	Inflammation (Inflammations) 01/2021
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2020
1	X-linked distal Arthrogryposis multiplex congenita 01/2020
1	Spinal Muscular Atrophies of Childhood (Werdnig Hoffman Disease) 01/2020
1	B-Cell Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia) 01/2019
1	Seizures (Absence Seizure) 05/2018
1	Movement Disorders (Movement Disorder) 05/2018
1	Guanidinoacetate methyltransferase deficiency 05/2018
1	Epilepsy (Aura) 01/2018
1	Hemangioma (Angioma) 03/2017
1	Pneumocystis Pneumonia (Pneumocystis carinii Pneumonia) 01/2013
1	Acute Kidney Injury (Acute Renal Failure) 01/2013
1	Angina Pectoris 09/2010
1	Ischemia 11/2006
1	Reperfusion Injury 11/2006

Drug/Important Bio-Agent (IBA)

3	Biomarkers (Surrogate Marker)IBA 01/2022 - 05/2012
3	Rose BengalIBA 06/2021 - 09/2017
3	Oxygen (Dioxygen)IBA 06/2021 - 09/2017
2	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2022
2	SteroidsIBA 05/2021 - 03/2017
2	EnzymesIBA 01/2020 - 05/2012
2	AntimetabolitesIBA 10/2018 - 09/2017
1	Amino Acids FDA Link 01/2022
1	Baclofen FDA LinkGeneric 01/2022
1	Diazepam (Valium)FDA LinkGeneric 01/2022
1	atalurenIBA 01/2022
1	Keratin-18 (Keratin 18)IBA 01/2022
1	Prednisolone (Predate)FDA LinkGeneric 01/2022
1	Keratin-8 (Keratin 8)IBA 01/2022
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2022
1	Troponin T (Troponin T1)IBA 01/2022
1	Chemokine CCL2 (Monocyte Chemoattractant Protein 1)IBA 01/2022
1	Nonsense Codon (Nonsense Mutation)IBA 01/2022
1	Interleukin-6 (Interleukin 6)IBA 01/2022
1	Transfer RNA (tRNA)IBA 01/2022
1	Reactive Oxygen Species (Oxygen Radicals)IBA 06/2021
1	polymethacrylic acid (PMAA)IBA 06/2021
1	Adrenal Cortex Hormones (Corticosteroids)IBA 05/2021
1	edasalonexentIBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2021
1	UbiquitinIBA 01/2020
1	vistusertibIBA 01/2019
1	Phosphotransferases (Kinase)IBA 01/2019
1	(5- (2,4- bis((3S)- 3- methylmorpholin- 4- yl)pyrido(2,3- d)pyrimidin- 7- yl)- 2- methoxyphenyl)methanolIBA 01/2019
1	Gemcitabine FDA Link 10/2018
1	CreatineIBA 05/2018
1	glycocyamineIBA 05/2018
1	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 05/2018
1	Phospholipids (Phosphatides)FDA LinkGeneric 09/2017
1	Fluorouracil (Carac)FDA LinkGeneric 09/2017
1	glubranIBA 03/2017
1	ethylene-vinyl alcohol copolymerIBA 03/2017
1	Dimethyl Sulfoxide (DMSO)FDA LinkGeneric 03/2017
1	Immunoglobulins (Immunoglobulin)IBA 03/2017
1	rucaparibIBA 01/2015
1	Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA 01/2015
1	Pentamidine (NebuPent)FDA LinkGeneric 01/2013
1	CreatinineIBA 01/2013
1	Nuclear Matrix-Associated ProteinsIBA 05/2012
1	ImmunosorbentsIBA 05/2012
1	nuclear matrix protein 22IBA 05/2012
1	Carcinoembryonic AntigenIBA 05/2012
1	AntigensIBA 05/2012
1	Nicorandil (SG 75)IBA 09/2010
1	EstersIBA 09/2010
1	Niacinamide (Nicotinamide)FDA LinkGeneric 09/2010
1	DNA (Deoxyribonucleic Acid)IBA 04/2009
1	Aligeron (AS 2)IBA 04/2009
1	Methylprednisolone FDA LinkGeneric 11/2006
1	NitratesIBA 11/2006

Therapy/Procedure

3	Therapeutics 10/2018 - 01/2013
2	Microbubbles 10/2018 - 09/2017
1	Mechanical Ventilators (Ventilator) 01/2022
1	Drug Therapy (Chemotherapy) 10/2018
1	Transitional Care 01/2018
1	Catheters 03/2017
1	Intravenous Administration 03/2017
1	Laparotomy 11/2006