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A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

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Year: 2009
Type: article
Source: Molecular Genetics and Metabolism
DOI: 10.1016/j.ymgme.2008.12.004
Authors: Prasanth Potluri, Antonio Davila, Eduardo Ruiz-Pesini, Dan Mishmar, Sean O’Hearn, Saege Hancock, Mariella Simon, Immo E. Scheffler, Douglas C. Wallace, Vincent Procaccio
Institutions: University of California, Irvine, Universidad de Zaragoza, Fundacion Agencia Aragonesa para la Investigacion y el Desarrollo, Centre for Biomedical Network Research on Rare Diseases, Ben-Gurion University of the Negev, University of California San Diego
Language: English

Topic: Mitochondrial Function and Pathology
Subfield: Molecular Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, U.S. Public Health Service, National Institute on Aging, National Institute of Neurological Disorders and Stroke
Awards: G1124296066, G3376850671, Adaptive Physiology of mtDNA Longevity Mutations, G5484089957, Mitochondrial Inborn Errors in Metabolism, ANT Defects in Neurodegenerative Diseases
OpenAlex ID: W2066160429
FWCI: 3.25
Cites: 43
Cited by: 102
Related to: 10
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