Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Letizia Vestito"'
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders characterised by incoordination from cerebellar dysfunction. Associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21493738e02250e948a0e65cdad5edff
https://doi.org/10.1101/2022.06.24.22276803
https://doi.org/10.1101/2022.06.24.22276803
Publikováno v:
Bioinformatics Advances
Animal models have long been used to study gene function and the impact of genetic mutations on phenotype. Through the research efforts of thousands of research groups, systematic curation of published literature and high-throughput phenotyping scree
Animal models have long been used to study gene function and the impact of genetic mutations on phenotype. Through the research efforts of thousands of research groups, systematic curation of published literature, and high-throughput phenotyping scre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21a4ebf63f459e04f07abb6423c72e5b
https://doi.org/10.1101/2021.06.10.447851
https://doi.org/10.1101/2021.06.10.447851
Autor:
Zhongbo Chen, Valentina Cipriani, David Zhang, Arianna Tucci, Letizia Vestito, Damian Smedley, Henry Houlden, Juan Botia, Mina Ryten
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 93:A107.3-A108
Up to 60–74% of patients with hereditary ataxia (HA) remain undiagnosed even following whole genome sequencing. We leveraged publicly-available -omics data to generate 299 genic features, capturing information about: gene structure/complexity; gene
Autor:
Letizia Vestito, Laurence Goutebroze, Nathaniel Heintz, Enrica Montalban, Albert Giralt, Kathrina Daila Neiburga, Wei Wang, Jean-Pierre Roussarie, Emmanuel Valjent, Denis Hervé, Paul Greengard, Lieng Taing, Assunta Pelosi, Angus C. Nairn, Claire Martin, Benoit de Pins, Laia Castell, Jean-Antoine Girault, Yuki Nakamura, Nicolas Le Novère
Forebrain dopaminoceptive neurons play a key role in movement, action selection, motivation, and working memory. Their activity is dysregulated in addiction, Parkinson’s disease and other conditions. To characterize the diverse dopamine target neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54286853f3ebdb354853ac871d953c24
https://doi.org/10.1101/2020.09.02.279240
https://doi.org/10.1101/2020.09.02.279240
Autor:
Miho Ishida, Philip Stanier, Daniyal J. Jafree, Emma Peskett, Claire Walsh, Jason Rihel, Cristina Alemán-Charlet, Kaitlyn M. Eckert, Sanchari Datta, Rimante Seselgyte, Thomas A. Hawkins, Marian Seda, Jeffrey G. McDonald, Hanaa Hariri, Lydia Teboul, Charalambos Demetriou, Gideon Pomeranz, Gudrun E. Moore, Letizia Vestito, Dale Bryant, W. Mike Henne, Maria Bitner-Glindzicz, Myriam Hemberger, Dagan Jenkins, Constance Maurer, Marcus Ghosh, James Cleak
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs. SCAR20 is understood to involve subcellular disruption to autophagy and lipid metabolism. Previously reported studies on the phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5088837813b63ac8b07f9923f25c772
http://hdl.handle.net/10044/1/90147
http://hdl.handle.net/10044/1/90147
Autor:
Enrica Montalban, Albert Giralt, Lieng Taing, Evelien H. S. Schut, Laura F. Supiot, Laia Castell, Yuki Nakamura, Benoit de Pins, Assunta Pelosi, Laurence Goutebroze, Pola Tuduri, Wei Wang, Katrina Daila Neiburga, Letizia Vestito, Julien Castel, Serge Luquet, Angus C. Nairn, Denis Hervé, Nathaniel Heintz, Claire Martin, Paul Greengard, Emmanuel Valjent, Frank J. Meye, Nicolas Gambardella, Jean-Pierre Roussarie, Jean-Antoine Girault
Publikováno v:
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry
Forebrain dopamine-sensitive (dopaminoceptive) neurons play a key role in movement, action selection, motivation, and working memory. Their activity is altered in Parkinson’s disease, addiction, schizophrenia, and other conditions, and drugs that s