Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Mitochondrial Complex V Deficiency[original query] |
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Mitochondrial DNA polymorphisms and haplogroups in Parkinson's disease and control individuals with a similar genetic background. Journal of human genetics 2008 53 (4): 349-56. Latsoudis Helen, Spanaki Cleanthe, Chlouverakis Grigoris, Plaitakis Andre |
Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage. Acta neuropathologica 2017 12 135 (3): 409-425. Flønes Irene H, Fernandez-Vizarra Erika, Lykouri Maria, Brakedal Brage, Skeie Geir Olve, Miletic Hrvoje, Lilleng Peer K, Alves Guido, Tysnes Ole-Bjørn, Haugarvoll Kristoffer, Dölle Christian, Zeviani Massimo, Tzoulis Charalamp |
Impact of a NDUFC2 Variant on the Occurrence of Acute Coronary Syndromes. Frontiers in cardiovascular medicine 2022 6 9 921244. Gallo Giovanna, Migliarino Serena, Cotugno Maria, Stanzione Rosita, Burocchi Simone, Bianchi Franca, Marchitti Simona, Autore Camillo, Volpe Massimo, Rubattu Speran |
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature. Endocrine connections 2024 8 . Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Sta |
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