Chinnery, Patrick F.

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

DESGESCO (Dementia Genetics Spanish Consortium), E. (. D. E. D. B., van der Lee, S. J., biobank), E. (. D. E. D., IFGC (International FTD-Genomics Consortium), I. (. I. P. D. G. C., IPDGC (The International Parkinson Disease Genomics Consortium), Dementia), R.-F. (. A. M. F. I. F.-T., (NBB), N. B. B., The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Conway, O. J., Jansen, I., et al. (2019) · Acta Neuropathologica

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 120

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Peall, K. J., Smith, D. J., Kurian, M. A., Wardle, M., Waite, A. J., Hedderly, T., Lin, J.-P., Smith, M., Whone, A., Pall, H., et al. (2013) · Brain

Deep Brain Stimulation and Movement DisordersGenetic Neurodegenerative Diseases

Cited by 116

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease

Nicolas, G., Acuña‐Hidalgo, R., Keogh, M. J., Quenez, O., Steehouwer, M., Lelieveld, S., Rousseau, S., Richard, A., Oud, M. S., Marguet, F., et al. (2018) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 81

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

Pyle, A., Hudson, G., Wilson, I. J., Coxhead, J., Smertenko, T., Herbert, M., Santibanez-Koref, M., & Chinnery, P. F. (2015) · PLOS Genetics

Forensic and Genetic ResearchMitochondrial Function and Pathology

Cited by 77

High prevalence of focal and multi-focal somatic genetic variants in the human brain

Keogh, M. J., Wei, W., Aryaman, J., Walker, L., van den Ameele, J., Coxhead, J., Wilson, I., Bashton, M., Beck, J., West, J., et al. (2018) · Nature Communications

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 74

Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

Cai, N., Gomez-Duran, A., Yonova-Doing, E., Kundu, K., Burgess, A. I., Golder, Z. J., Calabrese, C., Bonder, M. J., Camacho, M., Lawson, R. A., et al. (2021) · Nature Medicine

Mitochondrial Function and PathologyGenetic Associations and Epidemiology

Cited by 73

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

Bartsakoulia, M., Pyle, A., Troncoso-Chandía, D., Vial-Brizzi, J., Paz-Fiblas, M. V., Duff, J., Griffin, H., Boczonadi, V., Lochmüller, H., Kleinle, S., et al. (2018) · Human Molecular Genetics

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 68

Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction

Wood, G. K., Sargent, B. F., Ahmad, Z.-U.-A., Tharmaratnam, K., Dunai, C., Egbe, F. N., Martin, N. H., Facer, B., Pendered, S. L., Rogers, H. C., et al. (2025) · Nature Medicine

Long-Term Effects of COVID-19Infectious Encephalopathies and Encephalitis

Cited by 67

Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions

Bargiela, D., Burr, S. P., & Chinnery, P. F. (2018) · Trends in Endocrinology & Metabolism

Cancer, Hypoxia, and MetabolismEpigenetics and DNA Methylation

Cited by 60

POLG1 in idiopathic Parkinson disease

Tiangyou, W., Hudson, G., Ghezzi, D., Ferrari, G., Zeviani, M., Burn, D. J., & Chinnery, P. F. (2006) · Neurology

Parkinson's Disease Mechanisms and TreatmentsDeep Brain Stimulation and Movement Disorders

Cited by 50

Neuroferritinopathy: a new inborn error of iron metabolism

Keogh, M. J., Jonas, P., Coulthard, A., Chinnery, P. F., & Burn, J. (2012) · Neurogenetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 49

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation

Kwiatkowski, A., Ryckewaert, G., Jissendi Tchofo, P., Moreau, C., Vuillaume, I., Chinnery, P. F., Destée, A., Defebvre, L., & Devos, D. (2012) · Parkinsonism & Related Disorders

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 41

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

DeStefano, A. L., Latourelle, J., Lew, M. F., Suchowersky, O., Klein, C., Golbe, L. I., Mark, M. H., Growdon, J. H., Wooten, G. F., Watts, R., et al. (2008) · Human Genetics

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

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