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Matthew J Longley Selected Research

Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)

8/2010Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
7/2009Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
12/2005Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

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Matthew J Longley Research Topics

Disease

15Mitochondrial Diseases (Mitochondrial Disease)
12/2020 - 05/2002
7Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
09/2010 - 05/2002
3Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
08/2010 - 12/2005
2Acquired Immunodeficiency Syndrome (AIDS)
05/2003 - 03/2003
1Liver Failure
01/2018
1Muscular Diseases (Myopathy)
01/2018
1Infantile onset spinocerebellar ataxia
09/2010
1Ataxia (Dyssynergia)
08/2010
1Cytochrome-c Oxidase Deficiency
06/2006
1Hypersensitivity (Allergy)
08/2003
1HIV Infections (HIV Infection)
05/2003
1Rare Diseases (Rare Disease)
01/2003

Drug/Important Bio-Agent (IBA)

13Mitochondrial DNA (mtDNA)IBA
01/2020 - 05/2002
7DNA Polymerase gammaIBA
08/2010 - 05/2002
3DNA (Deoxyribonucleic Acid)IBA
12/2020 - 05/2002
1Biomarkers (Surrogate Marker)IBA
08/2010
1Electron Transport Complex IV (Cytochrome c Oxidase)IBA
06/2006
1CopperIBA
08/2003
1Phosphotransferases (Kinase)IBA
08/2003
1Mitochondrial Proteins (Mitochondrial Protein)IBA
08/2003
1NAD (NADH)IBA
08/2003
1carbovirIBA
05/2003
12',3'-dideoxy-2',3'-didehydrothymidine monophosphateIBA
05/2003
1Antiviral Agents (Antivirals)IBA
05/2003
1NucleosidesIBA
05/2003
1Biological ProductsIBA
03/2003

Therapy/Procedure

1Therapeutics
05/2003