Αποτελέσματα αναζήτησης - Compton, Alison G.

Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology από Frazier, Ann E., Thorburn, David R., Compton, Alison G.

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HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV από Hock, Daniella H., Reljic, Boris, Ang, Ching-Seng, Muellner-Wong, Linden, Mountford, Hayley S., Compton, Alison G., Ryan, Michael T., Thorburn, David R., Stroud, David A.

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Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases από Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John

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Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy από Compton, Alison G., Albrecht, Douglas E., Seto, Jane T., Cooper, Sandra T., Ilkovski, Biljana, Jones, Kristi J., Challis, Daniel, Mowat, David, Ranscht, Barbara, Bahlo, Melanie, Froehner, Stanley C., North, Kathryn N.

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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: distinguishing a dual diagnosis from a hypomorphic protein-truncating variant από Lake, Nicole J., Formosa, Luke E., Stroud, David A., Ryan, Michael T., Calvo, Sarah E., Mootha, Vamsi K., Morar, Bharti, Procopis, Peter G, Christodoulou, John, Compton, Alison G., Thorburn, David R.

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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations από 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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Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10 από Helman, Guy, Compton, Alison G., Hock, Daniella H., Walkiewicz, Marzena, Brett, Gemma R., Pais, Lynn, Tan, Tiong Y., De Paoli-Iseppi, Ricardo, Clark, Michael B., Christodoulou, John, White, Susan M., Thorburn, David R., Stroud, David A., Stark, Zornitza, Simons, Cas

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Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies από Akesson, Lauren S., Rius, Rocio, Brown, Natasha J., Rosenbaum, Jeremy, Donoghue, Sarah, Stormon, Michael, Chai, Charmaine, Bordador, Esmeralda, Guo, Yiran, Hakonarson, Hakon, Compton, Alison G., Thorburn, David R., Amarasekera, Sumudu, Marum, Justine, Monaco, Alisha, Lee, Crystle, Chong, Belinda, Lunke, Sebastian, Stark, Zornitza, Christodoulou, John

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Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing από Calvo, Sarah E., Compton, Alison G., Hershman, Steven G., Lim, Sze Chern, Lieber, Daniel S., Tucker, Elena J., Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B., Christodoulou, John, Fletcher, Janice M., Bruno, Damien L, Goldblatt, Jack, DiMauro, Salvatore, Thorburn, David R., Mootha, Vamsi K.

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Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes από Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.

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Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation από Tucker, Elena J., Hershman, Steven G., Köhrer, Caroline, Belcher-Timme, Casey A., Patel, Jinal, Goldberger, Olga A., Christodoulou, John, Silberstein, Jonathon M., McKenzie, Matthew, Ryan, Michael T., Compton, Alison G., Jaffe, Jacob D., Carr, Steven A., Calvo, Sarah E., RajBhandary, Uttam L., Thorburn, David R., Mootha, Vamsi K.

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A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome από Lim, Sze Chern, Smith, Katherine R., Stroud, David A., Compton, Alison G., Tucker, Elena J., Dasvarma, Ayan, Gandolfo, Luke C., Marum, Justine E., McKenzie, Matthew, Peters, Heidi L., Mowat, David, Procopis, Peter G., Wilcken, Bridget, Christodoulou, John, Brown, Garry K., Ryan, Michael T., Bahlo, Melanie, Thorburn, David R.

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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants από Rius, Rocio, Van Bergen, Nicole J., Compton, Alison G., Riley, Lisa G., Kava, Maina P., Balasubramaniam, Shanti, Amor, David J., Fanjul-Fernandez, Miriam, Cowley, Mark J., Fahey, Michael C., Koenig, Mary K., Enns, Gregory M., Sadedin, Simon, Wilson, Meredith J., Tan, Tiong Y., Thorburn, David R., Christodoulou, John

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

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Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression από Tucker, Elena J., Wanschers, Bas F. J., Szklarczyk, Radek, Mountford, Hayley S., Wijeyeratne, Xiaonan W., van den Brand, Mariël A. M., Leenders, Anne M., Rodenburg, Richard J., Reljić, Boris, Compton, Alison G., Frazier, Ann E., Bruno, Damien L., Christodoulou, John, Endo, Hitoshi, Ryan, Michael T., Nijtmans, Leo G., Huynen, Martijn A., Thorburn, David R.

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Lessons learned from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program από Cloney, Thomas, Gallacher, Lyndon, Pais, Lynn, Tan, Natalie B., Yeung, Alison, Stark, Zornitza, Brown, Natasha J, McGillivray, George, Delatycki, Martin B, de Silva, Michelle G., Downie, Lilian, Stutterd, Chloe A., Elliott, Justine, Compton, Alison G., Lovgren, Alysia, Oertel, Ralph, Francis, David, Bell, Katrina, Sadedin, Simon, Lim, Sze Chern, Helman, Guy, Simons, Cas, MacArthur, Daniel G., Thorburn, David R, O’Donnell-Luria, Anne, Christodoulou, John, White, Susan M., Tan, Tiong Yang

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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype από 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.

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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome από Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Bodaert, Nathalie, Assouline, Zahra, Sherpa, Mingma D., Schadt, Eric E., Houten, Sander M., Byrnes, James, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Haude, Katrina, Zhang, Zhancheng, Retterer, Kyle, Bai, Renkui, Calvo, Sarah E., Mootha, Vamsi K., Christodoulou, John, Rötig, Agnes, Filipovska, Aleksandra, Cristian, Ingrid, Falk, Marni J., Metodiev, Metodi D., Thorburn, David R.

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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome από Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Boddaert, Nathalie, Assouline, Zahra, Sherpa, Mingma D., Schadt, Eric E., Houten, Sander M., Byrnes, James, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Haude, Katrina, Zhang, Zhancheng, Retterer, Kyle, Bai, Renkui, Calvo, Sarah E., Mootha, Vamsi K., Christodoulou, John, Rötig, Agnes, Filipovska, Aleksandra, Cristian, Ingrid, Falk, Marni J., Metodiev, Metodi D., Thorburn, David R.

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Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis από Hayhurst, Hannah, de Coo, Irenaeus F. M., Piekutowska‐Abramczuk, Dorota, Alston, Charlotte L., Sharma, Sunil, Thompson, Kyle, Rius, Rocio, He, Langping, Hopton, Sila, Ploski, Rafal, Ciara, Elzbieta, Lake, Nicole J., Compton, Alison G., Delatycki, Martin B., Verrips, Aad, Bonnen, Penelope E., Jones, Simon A., Morris, Andrew A., Shakespeare, David, Christodoulou, John, Wesol‐Kucharska, Dorota, Rokicki, Dariusz, Smeets, Hubert J. M., Pronicka, Ewa, Thorburn, David R., Gorman, Grainne S., McFarland, Robert, Taylor, Robert W., Ng, Yi Shiau

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