Torthaí cuardaigh - Penelope E. Bonnen

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  1. 1
    Systematic review of mortality and survival rates for APDS

    Systematic review of mortality and survival rates for APDS de réir Jennifer Hanson, Penelope E. Bonnen

    Foilsithe / Cruthaithe 2024
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  2. 2
    Haplotype and Linkage Disequilibrium Architecture for Human Cancer-Associated Genes

    Haplotype and Linkage Disequilibrium Architecture for Human Cancer-Associated Genes de réir Penelope E. Bonnen, Peggy J. Wang, Marek Kimmel, Ranajit Chakraborty, David L. Nelson

    Foilsithe / Cruthaithe 2002
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  3. 3
    <i>WDR35</i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

    <i>WDR35</i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype de réir Carlos A. Bacino, Shweta U. Dhar, Nicola Brunetti‐Pierri, Brendan Lee, Penelope E. Bonnen

    Foilsithe / Cruthaithe 2012
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  4. 4
    mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities

    mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities de réir Jun Ma, Cristian Coarfa, Xiang Qin, Penelope E. Bonnen, Aleksandar Milosavljevic, James Versalovic, Kjersti M. Aagaard

    Foilsithe / Cruthaithe 2014
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  5. 5
    Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes

    Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes de réir Vivek Appadurai, Andrea E. DeBarber, Pei-Wen Chiang, Shailendra B. Patel, Robert D. Steiner, Charles R. Tyler, Penelope E. Bonnen

    Foilsithe / Cruthaithe 2015
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  6. 6
    Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α

    Translational control of mGluR-dependent long-term depression and object-place learning by eIF2α de réir Gonzalo Viana Di Prisco, Wei‐Chien Huang, Shelly A. Buffington, Chih-Chun Hsu, Penelope E. Bonnen, Andon N. Placzek, Carmela Sidrauski, K. Krnjević, Randal J. Kaufman, Peter Walter, Mauro Costa‐Mattioli

    Foilsithe / Cruthaithe 2014
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  7. 7
    Phenotype of GABA-transaminase deficiency

    Phenotype of GABA-transaminase deficiency de réir Mary Kay Koenig, Ryan Hodgeman, James J. Riviello, Wendy K. Chung, Jennifer Bain, Claudia A. Chiriboga, Kazushi Ichikawa, Hitoshi Osaka, Megumi Tsuji, K. Michael Gibson, Penelope E. Bonnen, Phillip L. Pearl

    Foilsithe / Cruthaithe 2017
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  8. 8
    The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

    The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism de réir Arnaud Besse, Ping Chun Wu, Francesco Bruni, Taraka Donti, Brett H. Graham, William J. Craigen, Robert McFarland, Paolo Moretti, Seema R. Lalani, Kenneth L. Scott, Robert W. Taylor, Penelope E. Bonnen

    Foilsithe / Cruthaithe 2015
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  9. 9
    Identification of Variant-Specific Functions of <i>PIK3CA</i> by Rapid Phenotyping of Rare Mutations

    Identification of Variant-Specific Functions of <i>PIK3CA</i> by Rapid Phenotyping of Rare Mutations de réir Turgut Dogruluk, Yiu Huen Tsang, Maribel Espitia, Fengju Chen, Tenghui Chen, Zechen Chong, Vivek Appadurai, Armel Dogruluk, Agna Karina Eterovic, Penelope E. Bonnen, Chad J. Creighton, Ken Chen, Gordon B. Mills, Kenneth L. Scott

    Foilsithe / Cruthaithe 2015
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  10. 10
    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

    Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency de réir Patricia Fitzsimons, Charlotte L. Alston, Penelope E. Bonnen, Joanne Hughes, Ellen Crushell, Michael T. Geraghty, Martine Tétreault, Peter M.R. O’Reilly, Eilish Twomey, Yusra Sheikh, Richard Walsh, Hans R. Waterham, Sacha Ferdinandusse, Ronald J. A. Wanders, Robert W. Taylor, James Pitt, Philip Mayne

    Foilsithe / Cruthaithe 2018
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  11. 11
    Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

    Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency de réir Charlotte L. Alston, Mike T. Veling, Juliana Heidler, Lucie S. Taylor, Joseph T. Alaimo, Andrew Y. Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine, Jullianne Diaz, Eyby Leon, Philipp Wolf, Robert McFarland, Holger Prokisch, Saskia B. Wortmann, Penelope E. Bonnen, Ilka Wittig, David J. Pagliarini, Robert W. Taylor

    Foilsithe / Cruthaithe 2019
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  12. 12
    SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

    SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) de réir Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E. Bonnen, Giusy Ranucci, Christian Thiel, Beate K. Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan Himes, Zarife Kuloğlu, Emma L. Blakely, Robert W. Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F. Hoffmann, Tobias B. Haack, Christian Staufner

    Foilsithe / Cruthaithe 2018
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  13. 13
    Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

    Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance de réir Penelope E. Bonnen, John W. Yarham, Arnaud Besse, Ping Chun Wu, Eissa Faqeih, Ali Alasmari, Mohammad A.M. Saleh, Wafaa Eyaid, Alrukban Hadeel, Langping He, Frances J.D. Smith, Shu Yau, Eve M. Simcox, Satomi Miwa, Taraka Donti, Khaled K. Abu‐Amero, Lee‐Jun C. Wong, William J. Craigen, Brett H. Graham, Kenneth L. Scott, Robert McFarland, Robert W. Taylor

    Foilsithe / Cruthaithe 2013
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  14. 14
    <i> <scp>OXA</scp> 1L </i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

    <i> <scp>OXA</scp> 1L </i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect de réir Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialò, Luke E. Formosa, David A. Stroud, Madeleine Garrett, Nichola Z. Lax, Fiona Robertson, Cristina Jou, A. Nascimento, C. Ortez, C. Jimenez‐Mallebrera, Steven Hardy, Langping He, Garry K. Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J. Battersby, Penelope E. Bonnen, Michael T. Ryan, Zofia M. Chrzanowska‐Lightowlers, Robert N. Lightowlers, Robert W. Taylor

    Foilsithe / Cruthaithe 2018
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  15. 15
    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations

    Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to <i>FBXL4</i> mutations de réir Martina Huemer, Daniela Karall, Anna Schossig, José E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi‐Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles Marques Lourenço, Sabine Scholl‐Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. Wortmann, Robert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

    Foilsithe / Cruthaithe 2015
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  16. 16
    Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

    Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number de réir Kyle Thompson, Homa Majd, Cristina Dallabona, Karit Reinson, Martin S. King, Charlotte L. Alston, Langping He, Tiziana Lodi, Simon Jones, Aviva Fattal‐Valevski, Nitay Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Sanna Puusepp, Penelope E. Bonnen, Richard J. Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R.S. Kunji, Robert W. Taylor

    Foilsithe / Cruthaithe 2016
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  17. 17
    <i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

    <i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population de réir Monika Oláhová, Steven Hardy, Julie Hall, John W. Yarham, Tobias B. Haack, William C. Wilson, Charlotte L. Alston, Langping He, Erik Aznauryan, Ruth M. Brown, Garry K. Brown, Andrew A.M. Morris, Helen Mundy, Alexander Broomfield, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Dorothea Möeslinger, Johannes Koch, Georg M. Stettner, Penelope E. Bonnen, Holger Prokisch, Robert N. Lightowlers, Robert McFarland, Zofia M. Chrzanowska‐Lightowlers, Robert W. Taylor

    Foilsithe / Cruthaithe 2015
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  18. 18
    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

    De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction de réir Nadja Ehmke, Luitgard Graul‐Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra KAYA KILIÇ, Anna Floriane Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Hölger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer‐Zirnsak, Uwe Kornak

    Foilsithe / Cruthaithe 2017
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  19. 19
    Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

    Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response de réir Jennifer L. Johnson, Loredana Elena Stoica, Yuwei Liu, Ping Zhu, Abhisek Bhattacharya, Shelly A. Buffington, Redwan Huq, N. Tony Eissa, Ola Larsson, Bo Porse, Deepti Domingo, Urwah Nawaz, Renée Carroll, Lachlan A. Jolly, Tom S. Scerri, Hyung‐Goo Kim, Amanda Brignell, Matthew Coleman, Ruth Braden, Usha Kini, Victoria E. Jackson, Anne Baxter, Melanie Bahlo, Ingrid E. Scheffer, David J. Amor, Michael S. Hildebrand, Penelope E. Bonnen, Christine Beeton, Jozef Gécz, Angela Morgan, Mauro Costa‐Mattioli

    Foilsithe / Cruthaithe 2019
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  20. 20
    Mutations in<i>ELAC2</i>associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

    Mutations in<i>ELAC2</i>associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing de réir Makenzie Saoura, Christopher A. Powell, Robert Kopajtich, Ahmad Alahmad, Haya H. Al‐Balool, Buthaina Albash, Majid Alfadhel, Charlotte L. Alston, Enrico Bertini, Penelope E. Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria Alice Donati, Michela Di Nottia, Daniele Ghezzi, Amy B. Goldstein, Eric Haan, Rita Horváth, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla‐Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo‐Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W. Taylor, Louis Levinger, Michal Minczuk

    Foilsithe / Cruthaithe 2019
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