Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes von Simon, Mariella T., Eftekharian, Shaya S., Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.

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Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion von Stiles, Ashlee R., Simon, Mariella T., Stover, Alexander, Eftekharian, Shaya, Khanlou, Negar, Wang, Hanlin L., Magaki, Shino, Lee, Hane, Partynski, Kate, Dorrani, Nagmeh, Chang, Richard, Martinez-Agosto, Julian A., Abdenur, Jose E.

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ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder von Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.

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Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans von Ji, Fuyun, Sharpley, Mark S, Derbeneva, Olga, Alves, Leonardo Scherer, Qian, Pin, Wang, Yaoli, Chalkia, Dimitra, Lvova, Maria, Xu, Jiancheng, Yao, Wei, Simon, Mariella, Platt, Julia, Xu, Shiqin, Angelin, Alessia, Davila, Antonio, Huang, Taosheng, Wang, Ping H, Chuang, Lee-Ming, Moore, Lorna G, Qian, Guisheng, Wallace, Douglas C

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome von Simon, Mariella, Richard, Elodie M, Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H, Qaiser, Tanveer A, Potluri, Prasanth, Mahl, Sarah E, Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-Sheqaih, Nada, Newman, William G, Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N, Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B, Wu, Doris K, Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C, Ahmed, Zubair M, Huang, Taosheng, Riazuddin, Saima

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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation von Huang, Wei-Lin, Steenari, Maija R., Barrick, Rebekah, Simon, Mariella T., Chang, Richard, Eftekharian, Shaya S., Stover, Alexander, Schwartz, Philip H., Latini, Alexandra, Abdenur, Jose E.

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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup von Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, Wallace, Douglas C.

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Mitochondrial and ion channel gene alterations in autism von Smith, Moyra, Flodman, Pamela L., Gargus, John J., Simon, Mariella T., Verrell, Kimberley, Haas, Richard, Reiner, Gail E., Naviaux, Robert, Osann, Katherine, Spence, M. Anne, Wallace, Douglas C.

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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency von Simon, Mariella T, Ng, Bobby G, Friederich, Marisa W, Wang, Raymond Y, Boyer, Monica, Kircher, Martin, Collard, Renata, Buckingham, Kati J, Chang, Richard, Shendure, Jay, Nickerson, Deborah A, Bamshad, Michael J, Van Hove, Johan L K, Freeze, Hudson H, Abdenur, Jose E

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LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS von Huang, Wei-Lin, Simon, Mariella, Stover, Alexander, Chang, Richard, Schwartz, Philip, Abdenur, Jose E.

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LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL): NOVEL DARS2 MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS von Huang, Wei-Lin, Simon, Mariella, Stover, Alexander, Chang, Richard, Schwartz, Philip, Abdenur, Jose E.

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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss von Klein, Christopher J, Botuyan, Maria-Victoria, Wu, Yanhong, Ward, Christopher J, Nicholson, Garth A, Hammans, Simon, Hojo, Kaori, Yamanishi, Hiromitch, Karpf, Adam R, Wallace, Douglas C, Simon, Mariella, Lander, Cecilie, Boardman, Lisa A, Cunningham, Julie M, Smith, Glenn E, Litchy, William J, Boes, Benjamin, Atkinson, Elizabeth J, Middha, Sumit, B Dyck, P James, Parisi, Joseph E, Mer, Georges, Smith, David I, Dyck, Peter J

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A NEW CASE OF (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS von Huang, Wei-Lin, Chapel-Crespo, Cristel C., Bressi, Rebekah, Simon, Mariella T., Stover, Alexander, Nguyen, Daniel, Schwartz, Philip, Abdenur, Jose E.

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A NEW CASE OF SFXN4 (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS von Huang, Wei-Lin, Chapel-Crespo, Cristel C., Bressi, Rebekah, Simon, Mariella T., Stover, Alexander, Nguyen, Daniel, Schwartz, Philip, Abdenur, Jose E.

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease von Van Haute, Lindsey, Páleníková, Petra, Tang, Jia Xin, Nash, Pavel A, Simon, Mariella T, Pyle, Angela, Oláhová, Monika, Powell, Christopher A, Rebelo-Guiomar, Pedro, Stover, Alexander, Champion, Michael, Deshpande, Charulata, Baple, Emma L, Stals, Karen L, Ellard, Sian, Anselem, Olivia, Molac, Clémence, Petrilli, Giulia, Loeuillet, Laurence, Grotto, Sarah, Attie-Bitach, Tania, Abdenur, Jose E, Taylor, Robert W, Minczuk, Michal

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Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafne... von Schwartzentruber, Jeremy, Buhas, Daniela, Majewski, Jacek, Sasarman, Florin, Papillon-Cavanagh, Simon, Thiffaut, Isabelle, Sheldon, Katherine M., Massicotte, Christine, Patry, Lysanne, Simon, Mariella, Zare, Amir S., McKernan, Kevin J., Michaud, Jacques, Boles, Richard G., Deal, Cheri L., Desilets, Valerie, Shoubridge, Eric A., Samuels, Mark E.

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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency von Keshavan, Nandaki, Abdenur, Jose, Anderson, Glenn, Assouline, Zahra, Barcia, Giulia, Bouhikbar, Lamia, Chakrapani, Anupam, Cleary, Maureen, Cohen, Marta C., Feillet, François, Fratter, Carl, Hauser, Natalie, Jacques, Tom, Lam, Amanda, McCullagh, Helen, Phadke, Rahul, Rötig, Agnès, Sharrard, Mark, Simon, Mariella, Smith, Conrad, Sommerville, Ewen W., Taylor, Robert W., Yue, Wyatt W., Rahman, Shamima

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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia von Mehta, SG, Khare, M, Ramani, R, Watts, GDJ, Simon, M, Osann, KE, Donkervoort, S, Dec, E, Nalbandian, A, Platt, J, Pasquali, M, Wang, A, Mozaffar, T, Smith, CD, Kimonis, VE

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A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease von Potluri, Prasanth, Davila, Antonio, Ruiz-Pesini, Eduardo, Mishmar, Dan, O’Hearn, Sean, Hancock, Saege, Simon, Mariella, Scheffler, Immo E., Wallace, Douglas C., Procaccio, Vincent

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Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions von Zhang, Chengkang, Huang, Vincent H., Simon, Mariella, Sharma, Lokendra K., Fan, Weiwei, Haas, Richard, Wallace, Douglas C., Bai, Yidong, Huang, Taosheng

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