Sinéad M Murphy Selected Research

Cowchock syndrome

12/2019

Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.

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Sinéad M Murphy Research Topics

Disease

3	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 06/2012 - 03/2011
2	Ataxia (Dyssynergia) 11/2023 - 03/2017
1	Sensorineural Hearing Loss 01/2023
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2023
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023
1	Disease Progression 12/2021
1	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 10/2021
1	Carotid Stenosis (Carotid Artery Stenosis) 01/2021
1	Cowchock syndrome 12/2019
1	Peripheral Nervous System Diseases (PNS Diseases) 12/2019
1	Cerebellar Ataxia (Dysmetria) 03/2017
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 03/2017
1	Spastic ataxia Charlevoix-Saguenay type 01/2013
1	Paralysis (Palsy) 01/2013
1	Chorea (Rheumatic Chorea) 10/2012
1	Glycogen Storage Disease Type II (Pompe's Disease) 10/2012
1	Huntington Disease (Huntington's Disease) 10/2012
1	Infantile Spasms (West Syndrome) 10/2012
1	Mitochondrial Diseases (Mitochondrial Disease) 09/2012
1	Tonic Pupil 03/2011

Drug/Important Bio-Agent (IBA)

1	MethyltransferasesIBA 01/2023
1	DNA (Deoxyribonucleic Acid)IBA 01/2023
1	Biomarkers (Surrogate Marker)IBA 12/2021
1	K Cl- CotransportersIBA 10/2021
1	von Willebrand FactorIBA 01/2021
1	AntigensIBA 01/2021
1	Von Willebrand antigenIBA 01/2021
1	Apoptosis Inducing FactorIBA 12/2019
1	coenzyme Q10 (CoQ10)IBA 03/2017
1	AnoctaminsIBA 03/2017
1	LipofuscinIBA 01/2013
1	Adrenocorticotropic Hormone (ACTH)FDA Link 10/2012
1	Tetrabenazine (Nitoman)FDA Link 10/2012
1	oligomycin sensitivity-conferring protein (complex V)IBA 09/2012
1	Mitochondrial DNA (mtDNA)IBA 09/2012
1	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 09/2012
1	Small Heat-Shock ProteinsIBA 06/2012
1	Gap Junction beta-1 ProteinIBA 03/2011
1	ConnexinsIBA 03/2011
1	Myelin P0 Protein (Myelin Protein Zero)IBA 03/2011
1	5' Untranslated Regions (5' UTR)IBA 03/2011

Therapy/Procedure

1	Long-Term Care 11/2023
1	Patient Care 11/2023
1	Cochlear Implants (Cochlear Implant) 01/2023
1	Therapeutics 03/2017
1	Enzyme Replacement Therapy 10/2012