Patrick F Chinnery Selected Research

Adenine Nucleotide Translocator 1

4/2007	Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
4/2005	A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

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Patrick F Chinnery Research Topics

Disease

52	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 07/2002
15	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 11/2002
13	Parkinson Disease (Parkinson's Disease) 01/2020 - 04/2005
13	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 12/2003
12	Ataxia (Dyssynergia) 01/2019 - 02/2008
11	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 02/2014 - 11/2002
8	Neoplasms (Cancer) 01/2021 - 10/2002
8	Muscular Diseases (Myopathy) 01/2018 - 11/2002
8	Neuroferritinopathy 08/2012 - 11/2002
7	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 08/2008
7	Optic Nerve Diseases (Optic Neuropathy) 11/2015 - 04/2005
6	Alzheimer Disease (Alzheimer's Disease) 01/2020 - 04/2005
6	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2018 - 10/2003
6	Movement Disorders (Movement Disorder) 01/2016 - 01/2005
5	Disease Progression 01/2019 - 02/2008
5	Dystonia (Limb Dystonia) 01/2019 - 05/2012
5	Epilepsy (Aura) 01/2018 - 11/2010
5	Cytochrome-c Oxidase Deficiency 10/2015 - 11/2002
5	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 01/2015 - 02/2008
5	Hereditary Myopathy with Early Respiratory Failure 06/2014 - 06/2012
4	Deafness (Deaf Mutism) 01/2018 - 09/2004
4	Infections 10/2017 - 12/2005
3	COVID-19 03/2022 - 12/2021
3	Ophthalmoplegia (External Ophthalmoplegia) 01/2022 - 02/2008
3	Metabolic Diseases (Metabolic Disease) 01/2022 - 09/2011
3	Rare Diseases (Rare Disease) 01/2021 - 11/2002
3	Late Onset Disorders 01/2020 - 01/2015
3	Optic Atrophy 11/2017 - 05/2012
3	Cerebellar Ataxia (Dysmetria) 12/2016 - 11/2014
3	Parkinsonian Disorders (Parkinsonism) 01/2016 - 04/2007
3	Leigh Disease (Leigh's Disease) 10/2015 - 11/2013
3	Dementia (Dementias) 03/2015 - 08/2007
3	HIV Infections (HIV Infection) 01/2015 - 11/2013
3	Cardiomyopathies (Cardiomyopathy) 01/2015 - 07/2004
3	Cognitive Dysfunction 10/2014 - 08/2007
3	Blindness (Hysterical Blindness) 09/2011 - 12/2010
3	Open-Angle Glaucoma (Glaucoma, Open Angle) 04/2005 - 02/2004
2	Nervous System Diseases (Neurological Disorders) 01/2022 - 01/2011
2	Ischemic Stroke 01/2022 - 05/2010
2	Type 2 Diabetes Mellitus (MODY) 01/2021 - 01/2014
2	Paresis (Hemiparesis) 01/2020 - 01/2014
2	Pantothenate Kinase-Associated Neurodegeneration (Hallervorden-Spatz Disease) 01/2019 - 01/2011
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2018 - 07/2014
2	Hearing Loss (Hearing Impairment) 01/2018 - 01/2016
2	Tremor (Tremors) 01/2018 - 12/2016
2	Respiratory Insufficiency (Respiratory Failure) 01/2018 - 03/2014
2	Autistic Disorder (Autism) 01/2018 - 09/2008
2	Leukoencephalopathies 01/2017 - 01/2015
2	Muscle Hypotonia (Hypotonia) 05/2016 - 01/2016
2	Neuromyelitis Optica (Devic's Disease) 01/2016 - 04/2008
2	Liver Diseases (Liver Disease) 10/2015 - 01/2011
2	Peripheral Nervous System Diseases (PNS Diseases) 10/2015 - 05/2012
2	Prion Diseases (Transmissible Spongiform Encephalopathies) 10/2015 - 04/2014
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2015 - 01/2009
2	Migraine Disorders (Migraine) 05/2014 - 11/2010
2	Headache Disorders (Headache Syndromes) 05/2014 - 11/2010
2	Bipolar Disorder (Manic Depressive Psychosis) 05/2014 - 11/2010
2	Spastic ataxia Charlevoix-Saguenay type 05/2014 - 12/2013
2	Myofibrillar Myopathy 03/2014 - 05/2009
2	Lewy Body Disease (Lewy Body Dementia) 06/2013 - 10/2012
2	Atrophy 01/2013 - 10/2012
2	Tics (Tic) 08/2012 - 10/2010
2	Chorea (Rheumatic Chorea) 08/2012 - 01/2011

Drug/Important Bio-Agent (IBA)

107	Mitochondrial DNA (mtDNA)IBA 01/2022 - 07/2002
16	Proteins (Proteins, Gene)FDA Link 01/2022 - 08/2007
10	Biomarkers (Surrogate Marker)IBA 01/2021 - 10/2012
9	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 04/2012
7	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018 - 11/2002
6	IronIBA 01/2019 - 11/2002
6	EnzymesIBA 01/2018 - 09/2008
6	ApoferritinsIBA 08/2012 - 01/2005
5	ConnectinIBA 06/2014 - 06/2012
4	coenzyme Q10 (CoQ10)IBA 11/2014 - 10/2008
4	Apolipoproteins E (ApoE)IBA 10/2014 - 02/2004
3	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2022 - 10/2015
3	Amino Acids FDA Link 12/2020 - 01/2015
3	Glucosylceramidase (Glucocerebrosidase)IBA 03/2015 - 10/2012
3	Phosphotransferases (Kinase)IBA 12/2014 - 11/2008
3	NucleosidesIBA 07/2014 - 01/2004
3	Creatine Kinase (Creatine Phosphokinase)IBA 06/2014 - 01/2011
3	Valproic Acid (Depakote)FDA LinkGeneric 05/2014 - 09/2008
2	Messenger RNA (mRNA)IBA 03/2022 - 07/2014
2	NucleotidesIBA 01/2022 - 02/2017
2	fibroblast growth factor 21IBA 01/2020 - 11/2013
2	Riboflavin (Vitamin B2)FDA LinkGeneric 11/2017 - 06/2016
2	Transfer RNA (tRNA)IBA 05/2016 - 04/2004
2	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2016 - 01/2009
2	RNA (Ribonucleic Acid)IBA 10/2015 - 01/2011
2	Prion ProteinsIBA 10/2015 - 04/2014
2	Leucine (L-Leucine)FDA Link 12/2014 - 11/2008
2	Chloride Channels (Chloride Channel)IBA 11/2014 - 01/2011
2	AnoctaminsIBA 11/2014 - 01/2011
2	CalciumIBA 09/2014 - 01/2009
2	ProteomeIBA 06/2014 - 05/2011
2	Codon (Codons)IBA 12/2013 - 04/2005
2	Tetrabenazine (Nitoman)FDA Link 08/2012 - 10/2010
2	Botulinum Toxins (Botulinum Toxin)IBA 08/2012 - 09/2006

Therapy/Procedure

12	Therapeutics 01/2022 - 10/2008
2	Critical Care (Surgical Intensive Care) 10/2015 - 06/2010
2	Ligation 05/2014 - 10/2012