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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.
Published in American journal of human genetics (02.01.2020)
Published in American journal of human genetics (02.01.2020)
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Journal Article
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I.C., Feichtinger, René G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil, Bjørnstad, Alf, Henneke, Lisa, Gärtner, Jutta, Thiele, Holger, Tauchmannova, Katerina, Quaghebeur, Gerardine, Houstek, Josef, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert, Poulton, Joanna, Ryan, Michael T., Wittig, Ilka, Henneke, Marco, Taylor, Robert W.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Journal Article
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Journal Article
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
Sánchez-Caballero, Laura, Ruzzenente, Benedetta, Bianchi, Lucas, Assouline, Zahra, Barcia, Giulia, Metodiev, Metodi D., Rio, Marlène, Funalot, Benoît, van den Brand, Mariël A.M., Guerrero-Castillo, Sergio, Molenaar, Joery P., Koolen, David, Brandt, Ulrich, Rodenburg, Richard J., Nijtmans, Leo G., Rötig, Agnès
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Journal Article
In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit
Raffa, Salvatore, Scrofani, Cristina, Valente, Sabatino, Micaloni, Andrea, Forte, Maurizio, Bianchi, Franca, Coluccia, Roberta, Geurts, Aron M, Sciarretta, Sebastiano, Volpe, Massimo, Torrisi, Maria Rosaria, Rubattu, Speranza
Published in Human molecular genetics (01.12.2017)
Published in Human molecular genetics (01.12.2017)
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Journal Article
Respiratory chain deficiency in aged spinal motor neurons
Rygiel, Karolina A., Grady, John P., Turnbull, Doug M.
Published in Neurobiology of aging (01.10.2014)
Published in Neurobiology of aging (01.10.2014)
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Journal Article
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
Lebre, A S, Rio, M, Faivre d'Arcier, L, Vernerey, D, Landrieu, P, Slama, A, Jardel, C, Laforêt, P, Rodriguez, D, Dorison, N, Galanaud, D, Chabrol, B, Paquis-Flucklinger, V, Grévent, D, Edvardson, S, Steffann, J, Funalot, B, Villeneuve, N, Valayannopoulos, V, de Lonlay, P, Desguerre, I, Brunelle, F, Bonnefont, J P, Rötig, A, Munnich, A, Boddaert, N
Published in Journal of medical genetics (01.01.2011)
Published in Journal of medical genetics (01.01.2011)
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Journal Article
Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease
Rubattu, Speranza, Di Castro, Sara, Schulz, Herbert, Geurts, Aron M., Cotugno, Maria, Bianchi, Franca, Maatz, Henrike, Hummel, Oliver, Falak, Samreen, Stanzione, Rosita, Marchitti, Simona, Scarpino, Stefania, Giusti, Betti, Kura, Ada, Gensini, Gian Franco, Peyvandi, Flora, Mannucci, Pier Mannuccio, Rasura, Maurizia, Sciarretta, Sebastiano, Dwinell, Melinda R., Hubner, Norbert, Volpe, Massimo
Published in Journal of the American Heart Association (01.02.2016)
Published in Journal of the American Heart Association (01.02.2016)
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Journal Article
Superoxide production is inversely related to complex I activity in inherited complex I deficiency
Verkaart, Sjoerd, Koopman, Werner J.H., van Emst-de Vries, Sjenet E., Nijtmans, Leo G.J., van den Heuvel, Lambertus W.P.J., Smeitink, Jan A.M., Willems, Peter H.G.M.
Published in Biochimica et biophysica acta (01.03.2007)
Published in Biochimica et biophysica acta (01.03.2007)
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Journal Article
Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?
Koopman, Werner J. H, Verkaart, Sjoerd, Visch, Henk Jan, van Emst-de Vries, Sjenet, Nijtmans, Leo G. J, Smeitink, Jan A. M, Willems, Peter H. G. M
Published in American Journal of Physiology: Cell Physiology (01.07.2007)
Published in American Journal of Physiology: Cell Physiology (01.07.2007)
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Journal Article
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Fernandez-Vizarra, Erika, Berardinelli, Angela, Valente, Lucia, Tiranti, Valeria, Zeviani, Massimo
Published in Journal of medical genetics (01.03.2007)
Published in Journal of medical genetics (01.03.2007)
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Journal Article
Calcium and ATP handling in human NADH:Ubiquinone oxidoreductase deficiency
Valsecchi, Federica, Esseling, John J., Koopman, Werner J.H., Willems, Peter H.G.M.
Published in Biochimica et biophysica acta (01.12.2009)
Published in Biochimica et biophysica acta (01.12.2009)
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Journal Article
Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency
Visch, Henk-Jan, Koopman, Werner J.H., Leusink, Anouk, van Emst-de Vries, Sjenet E., van den Heuvel, Lambertus W.P.J., Willems, Peter H.G.M., Smeitink, Jan A.M.
Published in Biochimica et biophysica acta (2006)
Published in Biochimica et biophysica acta (2006)
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Journal Article
Complex I deficiency in Persian multiple sclerosis patients
Kumleh, Hassan H., Riazi, Gholam H., Houshmand, Massoud, Sanati, Mohammad H., Gharagozli, Kourosh, Shafa, Mehdi
Published in Journal of the neurological sciences (15.04.2006)
Published in Journal of the neurological sciences (15.04.2006)
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Journal Article