Resultados de búsqueda - Glenn Anderson
- Mostrando 1 - 19 Resultados de 19
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The interaction of carbon nanotubes with an in vitro blood-brain barrier model and mouse brain in vivo por Houmam Kafa, Julie Wang, Noelia Rubio, Kerrie Venner, Glenn Anderson, Elzbieta Pach, Belén Ballesteros, Jane E. Preston, N. Joan Abbott, Khuloud T. Al‐Jamal
Publicado 2015Artigo -
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The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells por Sean David Hughes, Marta Kanabus, Glenn Anderson, Iain P. Hargreaves, Tricia Rutherford, Maura O’ Donnell, J. Helen Cross, Shamima Rahman, Simon Eaton, Simon Heales
Publicado 2014Artigo -
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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing por Mariacristina Scoto, Thomas Cullup, Sebahattin Çirak, Shu Yau, Adnan Y. Manzur, Lucy Feng, Thomas S. Jacques, Glenn Anderson, Stephen Abbs, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni
Publicado 2013Artigo -
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Human Coronavirus OC43 Associated with Fatal Encephalitis por Sofia Morfopoulou, Julianne R. Brown, E. Graham Davies, Glenn Anderson, Alex Virasami, Waseem Qasim, W.K. Chong, Michael Hubank, Vincent Plagnol, Marc Desforges, Thomas S. Jacques, Pierre J. Talbot, Judith Breuer
Publicado 2016Carta -
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Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis por Sara Mole, Glenn Anderson, Heather Band, Samuel F. Berkovic, Jonathan D. Cooper, Sophia-Martha kleine Holthaus, Tristan R. McKay, Diego L. Medina, Rahimin Affandi Abdul Rahim, Angela Schulz, Alexander J. Smith
Publicado 2018Revisão -
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Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission por Rojeen Shahni, Catherine M. Cale, Glenn Anderson, Laura D. Osellame, Sophie Hambleton, Thomas S. Jacques, Yehani Wedatilake, Jan‐Willem Taanman, Emma Chan, Waseem Qasim, Vincent Plagnol, Annapurna Chalasani, Michael R. Duchen, Kimberly Gilmour, Shamima Rahman
Publicado 2015Artigo -
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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 por Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Marian Seda, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Sérgio B. Sousa, Dagan Jenkins, Peter T. Clayton, Maria Bitner‐Glindzicz, Gudrun E. Moore, W. Mike Henne, Philip Stanier
Publicado 2018Artigo -
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Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients por Julianne R. Brown, Sofia Morfopoulou, Jonathan Hubb, Warren Emmett, Winnie Ip, Divya Shah, Tony Brooks, Simon Paine, Glenn Anderson, Alex Virasami, C. Y. William Tong, Duncan A. Clark, Vincent Plagnol, Thomas S. Jacques, Waseem Qasim, Michael Hubank, Judith Breuer
Publicado 2015Artigo -
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Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i> por Ariane Standing, Dessislava Malinova, Ying Hong, Julien Record, Dale Moulding, Michael P. Blundell, Karolin Nowak, Hannah E. Jones, Ebun Omoyinmi, Kimberly Gilmour, Alan Medlar, Horia Stanescu, Robert Kleta, Glenn Anderson, Sira Nanthapisal, Sónia Gomes, Nigel Klein, Despina Eleftheriou, Adrian J. Thrasher, Paul Brogan
Publicado 2016Artigo -
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Detailed Clinical Phenotype and Molecular Genetic Findings in <i>CLN3</i>-Associated Isolated Retinal Degeneration por Cristy A. Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert J. Kayton, Douglas A. Weeks, Glenn Anderson, Ryan D. Geraets, Camille Parker, David A. Pearce, Michel Michaelides, Robert E. MacLaren, Anthony G. Robson, Graham E. Holder, Elise Héon, F. Lucy Raymond, Anthony T. Moore, Andrew R. Webster, Mark E. Pennesi
Publicado 2017Artigo -
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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans por Federica Buonocore, Peter Kühnen, Jenifer P. Suntharalingham, Ignacio del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F. Brady, Oliver Blankenstein, Annie Procter, Paul Dimitri, J K Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W. Włodarski, Wei Chen, George Kokai, Glenn Anderson, Deborah Morrogh, Dale Moulding, Shane McKee, Charlotte M. Niemeyer, Annette Grüters, John C. Achermann
Publicado 2017Artigo -
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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome por Anna Thomas, Hywel Williams, Núria Setó‐Salvia, Chiara Bacchelli, Dagan Jenkins, Mary E. O’Sullivan, Konstantinos Mengrelis, Miho Ishida, Louise Ocaka, Estelle Chanudet, Chela James, Francesco Lescai, Glenn Anderson, Deborah Morrogh, Mina Ryten, Andrew Duncan, Yun Jin Pai, Jorge Saraiva, Fabiana Ramos, Bernadette Farren, Dawn E. Saunders, Bertrand Vernay, Paul Gissen, Anna Straatmaan-Iwanowska, Frank Baas, Nicholas Wood, Joshua Hersheson, Henry Houlden, Jane A. Hurst, Richard H. Scott, Maria Bitner‐Glindzicz, Gudrun E. Moore, Sérgio B. Sousa, Philip Stanier
Publicado 2014Artigo -
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Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA por Daan H.H.M. Viering, Karl P. Schlingmann, Marguerite Hureaux, Tom Nijenhuis, Andrew Mallett, Melanie Chan, André P. van Beek, Albertien M. van Eerde, Jean-Marie Coulibaly, Marion Vallet, Stéphane Decramer, Sandra Pelletier, Günter Klaus, Martin Kömhoff, Rolf Beetz, Chirag Patel, Mohan Shenoy, Eric J. Steenbergen, Glenn Anderson, Ernie M.H.F. Bongers, Carsten Bergmann, Daan M. Panneman, Richard J. Rodenburg, Robert Kleta, Pascal Houillier, Martin Konrad, Rosa Vargas‐Poussou, Nine V.A.M. Knoers, Detlef Böckenhauer, Jeroen H. F. de Baaij
Publicado 2021Artigo -
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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) por Samuel F. Berkovic, John F. Staropoli, Stirling Carpenter, Karen Oliver, Stanislav Kmoch, Glenn Anderson, John A. Damiano, Michael S. Hildebrand, Katherine B. Sims, Susan L. Cotman, Melanie Bahlo, Katherine R. Smith, Maxime Cadieux‐Dion, Patrick Cossette, Ivana Jedličková, Anna Přistoupilová, Sara Mole, Umberto Aguglia, Danielle M Andrade, Francesca Bisulli, Sylvia Boesch, Laura Canafoglia, Hans‐Henrik M. Dahl, Rainer Ehling, Silvana Franceschetti, Antonio Gambardella, Michael Gonzales, Renate Kalnins, Anthony E. Lang, Eliza Lewandowska, Laura Licchetta, Tiago Mestre, Michela Morbin, Chantal F. Morel, Klary E. Niezen‐Koning, Filippo M. Santorelli, Alessandro Simonati, Paolo Tinuper
Publicado 2016Artigo -
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<i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect por Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda Haberlandt, Glenn Anderson, Esther Leshinsky‐Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo D. Garnica, Noelle R. Danylchuk, Thomas Andrew Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine M. Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Ong, Santosh Mordekar, Michael Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo Maegawa, Abdel Aouacheria, Janet Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick
Publicado 2018Artigo -
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Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... por Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann
Publicado 2020Artigo -
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Genomic investigations of unexplained acute hepatitis in children por Sofia Morfopoulou, Sarah Buddle, Oscar Enrique Torres Montaguth, Laura Atkinson, José Afonso Guerra‐Assunção, Mahdi Moradi Marjaneh, Riccardo Zennezini Chiozzi, Nathaniel Storey, Luis Campos, J. Ciaran Hutchinson, John R. Counsell, Gabriele Pollara, Sunando Roy, Cristina Venturini, Juan F. Antinao Diaz, Ala’a Siam, Luke J. Tappouni, Zeinab Asgarian, Joanne Ng, Killian S. Hanlon, Alexander Lennon, Andrew McArdle, Agata Czap, Joshua Rosenheim, Catarina Andrade, Glenn Anderson, Jack C. D. Lee, Rachel Williams, Charlotte A. Williams, Helena J. Tutill, Nadua Bayzid, Luz Marina Martin Bernal, Hannah Macpherson, Kylie-Ann Montgomery, Catherine Moore, Kate Templeton, Claire Neill, Matthew T. G. Holden, Rory Gunson, Samantha J. Shepherd, Priyen Shah, Samantha Cooray, Marie Voice, M.A. Steele, Colin G. Fink, Thomas E. Whittaker, Giorgia Santilli, Paul Gissen, Benedikt B. Kaufer, Jana Reich, Julien Andréani, Peter Simmonds, Dimah K. Alrabiah, Sergi Castellano, Primrose Chikowore, Miranda Odam, Tommy Rampling, Catherine Houlihan, Katja Höschler, Tiina Talts, Cristina Celma, Suam Gonzalez, Eileen Gallagher, Ruth Simmons, Conall Watson, Sema Mandal, Maria Zambon, Meera Chand, James Hatcher, Surjo De, J. Kenneth Baillie, Malcolm G. Semple, Evangelos Bellos, Claire Broderick, Samuel Channon‐Wells, Tisham De, Giselle D’Souza, Leire Estramiana Elorrieta, Diego Estrada‐Rivadeneyra, Rachel Galassini, Dominic Habgood-Coote, Shea Hamilton, Heather Jackson, James Kavanagh, Mahdi Moradi Marjaneh, Stephanie Menikou, Samuel Nichols, Ruud Nijman, Harsita Patel, Ivana Pennisi, Oliver Powell, Ruth Reid, Ortensia Vito, Elizabeth Whittaker, Clare Wilson, Rebecca Womersley, Amina Abdulla, Sarah Darnell, Sobia Mustafa, Pantelis Georgiou
Publicado 2023Artigo
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