檢索結果 - Alison G. Compton

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  1. 1
    Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

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

    出版 2017
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  2. 2
    Leigh syndrome: One disorder, more than 75 monogenic causes

    Leigh syndrome: One disorder, more than 75 monogenic causes 由 Nicole J. Lake, Alison G. Compton, Shamima Rahman, David R. Thorburn

    出版 2015
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  3. 3
    Next-generation sequencing in molecular diagnosis: <i>NUBPL</i> mutations highlight the challenges of variant detection and interpretation

    Next-generation sequencing in molecular diagnosis: <i>NUBPL</i> mutations highlight the challenges of variant detection and interpretation 由 Elena J. Tucker, Masakazu Mimaki, Alison G. Compton, Matthew McKenzie, Michael T. Ryan, David R. Thorburn

    出版 2011
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  4. 4
    HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV

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

    出版 2020
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  5. 5
    Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

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

    出版 2008
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  6. 6
    Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease

    Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease 由 Jordan J. Crameri, Catherine S. Palmer, Tegan Stait, Thomas D. Jackson, Matthew Lynch, Adriane Sinclair, Leah E. Frajman, Alison G. Compton, David Coman, David R. Thorburn, Ann E. Frazier, Diana Stojanovski

    出版 2024
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  7. 7
    Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

    Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome 由 Lisa G. Riley, Sandra T. Cooper, Peter F. Hickey, Joëlle Rudinger‐Thirion, Matthew McKenzie, Alison G. Compton, Sze Chern Lim, David R. Thorburn, Michael T. Ryan, Richard Giegé, Melanie Bahlo, John Christodoulou

    出版 2010
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  8. 8
    Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

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

    出版 2011
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  9. 9
    Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

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

    出版 2012
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  10. 10
    The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

    The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease 由 Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy, André E. Minoche, Clare Puttick, David R. Thorburn, Rocío Rius, Alison G. Compton, Minal Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E. Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M. Sue, Shanti Balasubramaniam, John Christodoulou

    出版 2020
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  11. 11
    A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

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

    出版 2014
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  12. 12
    Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic <i>MRPL39</i> variants as a cause of pediatric onset mitochondrial disease

    Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic <i>MRPL39</i> variants as a cause of pediatric onset mitochondrial disease 由 Sumudu S. C. Amarasekera, Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo, Sabine Grønborg, Emma Krzesinski, David J. Amor, Michael Fahey, Cas Simons, Flemming Wibrand, Vamsi K. Mootha, Monkol Lek, Sebastian Lunke, Zornitza Stark, Elsebet Østergaard, John Christodoulou, David R. Thorburn, David A. Stroud, Alison G. Compton

    出版 2023
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  13. 13
    High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

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

    出版 2010
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  14. 14
    Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

    Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation 由 Elena J. Tucker, Steven G. Hershman, Caroline Köhrer, Casey A. Belcher-Timme, Jinal Patel, Olga Goldberger, John Christodoulou, Jonathon M. Silberstein, Matthew McKenzie, Michael T. Ryan, Alison G. Compton, Jacob D. Jaffe, Steven A. Carr, Sarah E. Calvo, Uttam L. RajBhandary, David R. Thorburn, Vamsi K. Mootha

    出版 2011
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  15. 15
    Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

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

    出版 2013
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  16. 16
    Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

    Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency 由 Shabnam Bakhshalizadeh, Daniella H. Hock, Nicole A. Siddall, Brianna L. Kline, Rajini Sreenivasan, Katrina M. Bell, Franca Casagranda, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Niya Narayanan, Dukhabandhu Naik, Varun Suryadevara, Alison G. Compton, Sumudu S. C. Amarasekera, Ridam Kapoor, Sylvie Jaillard, Andrea Simpson, Gorjana Robevska, Jocelyn van den Bergen, Svenja Pachernegg, Katie L. Ayers, David R. Thorburn, David A. Stroud, Gary R. Hime, Andrew Sinclair, Elena J. Tucker

    出版 2023
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  17. 17
    Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

    Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype 由 Charlotte L. Alston, Alison G. Compton, Luke E. Formosa, Valentina Strecker, Monika Oláhová, Tobias B. Haack, Joél Smet, Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, David Cassiman, Nadine Romain, John W. Yarham, Langping He, Boél De Paepe, Arnaud Vanlander, Sara Seneca, René G. Feichtinger, Rafał Płoski, Dariusz Rokicki, Ewa Pronicka, Ronald G. Haller, Johan L.K. Van Hove, Melanie Bahlo, Johannes A. Mayr, Rudy Van Coster, Holger Prokisch, Ilka Wittig, Michael T. Ryan, David R. Thorburn, Robert W. Taylor

    出版 2016
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  18. 18
    Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

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

    出版 2017
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  19. 19
    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

    Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 由 Peter R. Baker, Marisa W. Friederich, Michael A. Swanson, Tamim H. Shaikh, Kaustuv Bhattacharya, Gunter Scharer, Joseph K. Aicher, Geralyn Creadon‐Swindell, Elizabeth A. Geiger, Kenneth N. Maclean, Wang‐Tso Lee, Charu Deshpande, Mary-Louise Freckmann, Ling-Yu Shih, Melissa Wasserstein, Malene Bøgehus Rasmussen, Allan M. Lund, Peter Procopis, Jessie M. Cameron, Brian H. Robinson, Garry K. Brown, Ruth M. Brown, Alison G. Compton, Carol L. Dieckmann, Renata Collard, Curtis R. Coughlin, Elaine Spector, Michael F. Wempe, Johan L.K. Van Hove

    出版 2013
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  20. 20
    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

    ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism 由 Radha Desai, Ann E. Frazier, Romina Durigon, Harshil Patel, Aleck W.E. Jones, Ilaria Dalla Rosa, Nicole J. Lake, Alison G. Compton, Hayley S. Mountford, Elena J. Tucker, Alice Mitchell, Deborah Jackson, Abdul Karim Sesay, Miriam Di Re, Lambert P. van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne‐Marie W. Turner, P. Ian Andrews, Jan Smeitink, Johannes N. Spelbrink, Simon Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian Holt, David R. Thorburn, Antonella Spinazzola

    出版 2017
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