Bilaketaren emaitzak - A. Reghan Foley
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The Ras-Erk-ETS-Signaling Pathway Is a Drug Target for Longevity nork Cathy Slack, Nazif Alic, A. Reghan Foley, Melissa Cabecinha, Matthew P. Hoddinott, Linda Partridge
Argitaratua 2015Artigo -
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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 nork 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
Argitaratua 2013Artigo -
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Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy nork 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
Argitaratua 2017Artigo -
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease nork 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
Argitaratua 2012Artigo -
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Genetic regulatory variation in populations informs transcriptome analysis in rare disease nork 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
Argitaratua 2019Artigo -
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PIEZO2 mediates injury-induced tactile pain in mice and humans nork 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
Argitaratua 2018Artigo -
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NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease nork 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
Argitaratua 2013Artigo -
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An ultrafast system for signaling mechanical pain in human skin nork 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
Argitaratua 2019Artigo -
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Sugar-Induced Obesity and Insulin Resistance Are Uncoupled from Shortened Survival in Drosophila nork 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
Argitaratua 2020Artigo -
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Fine-tuning autophagy maximises lifespan and is associated with changes in mitochondrial gene expression in Drosophila nork 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
Argitaratua 2020Artigo -
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The Role of <i>PIEZO2</i> in Human Mechanosensation nork 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
Argitaratua 2016Artigo -
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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye nork 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
Argitaratua 2017Artigo -
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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy nork 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
Argitaratua 2018Artigo -
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ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) nork 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
Argitaratua 2019Artigo -
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Natural history of pulmonary function in collagen VI-related myopathies nork 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
Argitaratua 2013Artigo
Bilaketa egiteko lanabesak:
Antzeko gaiak
Biology
Genetics
Medicine
Gene
Internal medicine
Phenotype
Mutation
Cell biology
Disease
Muscular dystrophy
Pathology
Endocrinology
Neuroscience
Anatomy
Bioinformatics
Compound heterozygosity
Exome sequencing
Computational biology
Myopathy
Amyotrophic lateral sclerosis
Biopsy
Muscle biopsy
Spinal muscular atrophy
Allele
Biochemistry
Clinical trial
Cohort
Computer science
Drosophila melanogaster
Gene expression