High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency von Thorburn, David R, Mootha, Vamsi K, Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J

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O.33.6 - (WIP) Telephone to Telehealth Pivot: pharmacy and medical students connect for shared decision-making: Presenter(s): Christine Hall, Idaho State University, United States;... von Kirby, Denise

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(WIP) Telephone to Telehealth Pivot: pharmacy and medical students connect for shared decision-making von Kirby, Denise

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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations von Swalwell, Helen, Kirby, Denise M, Blakely, Emma L, Mitchell, Anna, Salemi, Renato, Sugiana, Canny, Compton, Alison G, Tucker, Elena J, Ke, Bi-Xia, Lamont, Phillipa J, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W, Thorburn, David R

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Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease von Sugiana, Canny, Pagliarini, David J., McKenzie, Matthew, Kirby, Denise M., Salemi, Renato, Abu-Amero, Khaled K., Dahl, Hans-Henrik M., Hutchison, Wendy M., Vascotto, Katherine A., Smith, Stacey M., Newbold, Robert F., Christodoulou, John, Calvo, Sarah, Mootha, Vamsi K., Ryan, Michael T., Thorburn, David R.

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Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses von Gibson, Kate, Halliday, Jane L, Kirby, Denise M, Yaplito-Lee, Joy, Thorburn, David R, Boneh, Avihu

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Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations von Abramov, Andrey Y., Smulders-Srinivasan, Tora K., Kirby, Denise M., Acin-Perez, Rebeca, Enriquez, José Antonio, Lightowlers, Robert N., Duchen, Michael R., Turnbull, Douglass M.

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Approaches to Finding the Molecular Basis of Mitochondrial Oxidative Phosphorylation Disorders von Kirby, Denise M., Thorburn, David R.

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency von Kirby, Denise M, Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M, Kirk, Edwin P, Boneh, Avihu, Taylor, Robert W, Dahl, Hans-Henrik M, Ryan, Michael T, Thorburn, David R

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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency von McFarland, Robert, Kirby, Denise M., Fowler, Kerry J., Ohtake, Akira, Ryan, Michael T., Amor, David J., Fletcher, Janice M., Dixon, Joanne W., Collins, Felicity A., Turnbull, Douglass M., Taylor, Robert W., Thorburn, David R.

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Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease von Kirby, Denise M., Boneh, Avihu, Chow, C. W., Ohtake, Akira, Ryan, Michael T., Thyagarajan, Dominic, Thorburn, David R.

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Mitochondrial DNA mutations affect calcium handling in differentiated neurons von Trevelyan, Andrew J., Kirby, Denise M., Smulders-Srinivasan, Tora K., Nooteboom, Marco, Acin-Perez, Rebeca, Enriquez, José Antonio, Whittington, Miles A., Lightowlers, Robert N., Turnbull, Doug M.

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Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders von Thorburn, David R., Sugiana, Canny, Salemi, Renato, Kirby, Denise M., Worgan, Lisa, Ohtake, Akira, Ryan, Michael T.

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Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis von Marotta, Rosetta, Chin, Judy, Kirby, Denise M, Chiotis, Maria, Cook, Mark, Collins, Steven J

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Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases von Hui, Joannie, Kirby, Denise M, Thorburn, David R, Boneh, Avihu

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Mobilization and Apheresis Collection Strategies to Reduce Platelet Loss in G‐CSF Mobilized Healthy Adult Donors von Castro, Brittany, Huang, Jane, Le, Julie, Pascua, Diana, Goto, Hirona, Kirby, Denise, Lin, David

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Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions von Wilcox, Robert A., Churchyard, Andrew, Dahl, Henrik H., Hutchison, Wendy M., Kirby, Denise M., Thyagarajan, Dominic

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Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice von Sarsero, Joseph P, Li, Lingli, Holloway, Timothy P, Voullaire, Lucille, Gazeas, Sophie, Fowler, Kerry J, Kirby, Denise M, Thorburn, David R, Galle, Adam, Cheema, Surindar, Koenig, Michel, Williamson, Robert, Ioannou, Panos A

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Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates von Wilson, Callum J., Myer, Michael, Darlow, Brian A., Stanley, Thorsten, Thomson, Glen, Baumgartner, E. Regula, Kirby, Denise M., Thorburn, David R.

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Neonatal nurse staffing and delivery of clinical care in the SSBC Newborn Network von Pillay, Thillagavathie, Nightingale, Peter, Owen, Sarah, Kirby, Denise, Spencer, Andy

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