Risultati della ricerca - A. Reghan Foley

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  1. 1
    Activation of AMPK by the Putative Dietary Restriction Mimetic Metformin Is Insufficient to Extend Lifespan in Drosophila

    Activation of AMPK by the Putative Dietary Restriction Mimetic Metformin Is Insufficient to Extend Lifespan in Drosophila di Cathy Slack, A. Reghan Foley, Linda Partridge

    Pubblicazione 2012
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  2. 2
    dFOXO‐independent effects of reduced insulin‐like signaling in <i>Drosophila</i>

    dFOXO‐independent effects of reduced insulin‐like signaling in <i>Drosophila</i> di Cathy Slack, Maria E. Giannakou, A. Reghan Foley, Martin Goss, Linda Partridge

    Pubblicazione 2011
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  3. 3
    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness di Anna Sárközy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni

    Pubblicazione 2020
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  4. 4
    The Ras-Erk-ETS-Signaling Pathway Is a Drug Target for Longevity

    The Ras-Erk-ETS-Signaling Pathway Is a Drug Target for Longevity di Cathy Slack, Nazif Alic, A. Reghan Foley, Melissa Cabecinha, Matthew P. Hoddinott, Linda Partridge

    Pubblicazione 2015
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  5. 5
    Mechanisms of Life Span Extension by Rapamycin in the Fruit Fly Drosophila melanogaster

    Mechanisms of Life Span Extension by Rapamycin in the Fruit Fly Drosophila melanogaster di Ivana Bjedov, Janne M. Toivonen, Fiona Kerr, Cathy Slack, Jake Jacobson, A. Reghan Foley, Linda Partridge

    Pubblicazione 2010
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  6. 6
    Regulation of Lifespan, Metabolism, and Stress Responses by the Drosophila SH2B Protein, Lnk

    Regulation of Lifespan, Metabolism, and Stress Responses by the Drosophila SH2B Protein, Lnk di Cathy Slack, Christian Werz, Daniela Wieser, Nazif Alic, A. Reghan Foley, Hugo Stocker, Dominic J. Withers, Janet M. Thornton, Ernst Hafen, Linda Partridge

    Pubblicazione 2010
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  7. 7
    Position of Glycine Substitutions in the Triple Helix of<i>COL6A1</i>,<i>COL6A2</i>, and<i>COL6A3</i>is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

    Position of Glycine Substitutions in the Triple Helix of<i>COL6A1</i>,<i>COL6A2</i>, and<i>COL6A3</i>is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies di Russell J. Butterfield, A. Reghan Foley, Jahannaz Dastgir, Stephanie Asman, Diane M. Dunn, Yaqun Zou, Ying Hu, Sandra Donkervoort, Kevin M. Flanigan, Kathryn J. Swoboda, Thomas Winder, Robert B. Weiss, Carsten G. Bönnemann

    Pubblicazione 2013
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  8. 8
    Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy

    Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy di Xilma R. Ortiz‐González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A. Reghan Foley, Diana Bharucha‐Goebel, Sudha Kilaru Kessler, Sabrina W. Yum, Peter B. Crino, Miao He, Douglas C. Wallace, Carsten G. Bönnemann

    Pubblicazione 2017
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  9. 9
    Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

    Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease di Janel O. Johnson, J. Raphael Gibbs, André Mégarbané, J. Andoni Urtizberea, Dena Hernández, A. Reghan Foley, Sampath Arepalli, Amelie Pandraud, Javier Simón‐Sánchez, Peter T. Clayton, Mary M. Reilly, Francesco Muntoni, Yevgeniya Abramzon, Henry Houlden, Andrew Singleton

    Pubblicazione 2012
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  10. 10
    Genetic regulatory variation in populations informs transcriptome analysis in rare disease

    Genetic regulatory variation in populations informs transcriptome analysis in rare disease di Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah Einson, Christina Sousa, Paul Hoffman, Sandra Donkervoort, Zhuoxun Jiang, Payam Mohassel, A. Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bönnemann, Daniel G. MacArthur, Tuuli Lappalainen

    Pubblicazione 2019
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  11. 11
    PIEZO2 mediates injury-induced tactile pain in mice and humans

    PIEZO2 mediates injury-induced tactile pain in mice and humans di Marcin Szczot, Jaquette Liljencrantz, Nima Ghitani, Arnab Barik, Ruby M. Lam, James H. Thompson, Diana Bharucha‐Goebel, Dimah Saade, Aaron Necaise, Sandra Donkervoort, A. Reghan Foley, Taylor M. Gordon, Laura Case, M. Catherine Bushnell, Carsten G. Bönnemann, Alexander T. Chesler

    Pubblicazione 2018
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  12. 12
    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease di Robert D. S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Çirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain P. Hargreaves, Cathy E. Woodward, M G Sweeney, Francesco Muntoni, Henry Houlden, Jan‐Willem Taanman, Michael G. Hanna

    Pubblicazione 2013
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  13. 13
    An ultrafast system for signaling mechanical pain in human skin

    An ultrafast system for signaling mechanical pain in human skin di Saad S. Nagi, Andrew Marshall, Adarsh Makdani, Ewa Jarocka, Jaquette Liljencrantz, Mikael Ridderström, Sumaiya Shaikh, Francis O’Neill, Dimah Saade, Sandra Donkervoort, A. Reghan Foley, Jan Minde, Mats Trulsson, Jonathan Cole, Carsten G. Bönnemann, Alexander T. Chesler, M. Catherine Bushnell, Francis McGlone, Håkan Olausson

    Pubblicazione 2019
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  14. 14
    Sugar-Induced Obesity and Insulin Resistance Are Uncoupled from Shortened Survival in Drosophila

    Sugar-Induced Obesity and Insulin Resistance Are Uncoupled from Shortened Survival in Drosophila di Esther van Dam, Lucie A.G. van Leeuwen, Eliano dos Santos, Joel James, Lena Best, Claudia Lennicke, Alec Vincent, Γεώργιος Μαρίνος, A. Reghan Foley, Marcela Buricova, João Benhur Mokochinski, Holger Kramer, Wolfgang Lieb, Matthias Laudes, André Franke, Christoph Kaleta, Helena M. Cochemé

    Pubblicazione 2020
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  15. 15
    Fine-tuning autophagy maximises lifespan and is associated with changes in mitochondrial gene expression in Drosophila

    Fine-tuning autophagy maximises lifespan and is associated with changes in mitochondrial gene expression in Drosophila di Ivana Bjedov, Helena M. Cochemé, A. Reghan Foley, Daniela Wieser, Nathaniel S. Woodling, Jorge Iván Castillo-Quan, Povilas Norvaišas, Celia Lujan, Jennifer C. Regan, Janne M. Toivonen, Michael P. Murphy, Janet M. Thornton, Kerri J. Kinghorn, Thomas P. Neufeld, Filipe Cabreiro, Linda Partridge

    Pubblicazione 2020
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  16. 16
    The Role of <i>PIEZO2</i> in Human Mechanosensation

    The Role of <i>PIEZO2</i> in Human Mechanosensation di Alexander T. Chesler, Marcin Szczot, Diana Bharucha‐Goebel, Marta Čeko, Sandra Donkervoort, Claire Laubacher, Leslie H. Hayes, Katharine E. Alter, Cristiane Zampieri, C. J. Stanley, A. Micheil Innes, Jean K. Mah, Carla Grosmann, Nathaniel Bradley, David Nguyen, A. Reghan Foley, Claire E. Le Pichon, Carsten G. Bönnemann

    Pubblicazione 2016
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  17. 17
    P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

    P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye di Yaqun Zou, Sandra Donkervoort, Antti M. Salo, A. Reghan Foley, Aileen M. Barnes, Ying Hu, Elena Makareeva, M. Leach, Payam Mohassel, Jahannaz Dastgir, Matthew A. Deardorff, Ronald D. Cohn, Wendy DiNonno, Fransiska Malfait, Monkol Lek, Sergey Leikin, Joan C. Marini, Johanna Myllyharju, Carsten G. Bönnemann

    Pubblicazione 2017
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  18. 18
    Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

    Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy di Payam Mohassel, Océane Landon‐Cardinal, A. Reghan Foley, Sandra Donkervoort, Katherine Pak, Colleen E. Wahl, Robert T. Shebert, Amy Harper, Pierre Fequiere, Matthew N. Meriggioli, Camilo Toro, Daniel B. Drachman, Yves Allenbach, Olivier Benvéniste, Anthony Béhin, B. Eymard, Pascal Laforêt, Tanya Stojkovic, Andrew L. Mammen, Carsten G. Bönnemann

    Pubblicazione 2018
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  19. 19
    ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

    ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) di Xavière Lornage, Norma B. Romero, Claire A Grosgogeat, E. Malfatti, Sandra Donkervoort, Michael Mario Marchetti, Sarah Neuhaus, A. Reghan Foley, C. Labasse, Raphaël Schneider, Robert Carlier, Katherine R. Chao, Līvija Medne, Jean‐François Deleuze, David Orlikowski, Carsten G. Bönnemann, Vandana Gupta, Michel Fardeau, Johann Böhm, Jocelyn Laporte

    Pubblicazione 2019
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  20. 20
    Natural history of pulmonary function in collagen VI-related myopathies

    Natural history of pulmonary function in collagen VI-related myopathies di A. Reghan Foley, Susana Quijano‐Roy, James J. Collins, Volker Straub, Michelle McCallum, Nicolas Deconinck, Eugenio Mercuri, Marika Pane, Adele D’Amico, Enrico Bertini, Kathryn N. North, Monique M. Ryan, Pascale Richard, Valérie Allamand, Debbie Hicks, Shireen R. Lamandé, Ying Hu, Francesca Gualandi, Sungyoung Auh, Francesco Muntoni, Carsten G. Bönnemann

    Pubblicazione 2013
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