المؤلفون: Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James Polke, Robert W. Taylor, Carl Fratter

المصدر: European Journal of Human Genetics. 31:148-163

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45108d4849e41300ae18db25c79e3e42Test
https://doi.org/10.1038/s41431-022-01249-wTest

المؤلفون: Menelaos, Pipis, Seongsik, Won, Roy, Poh, James, Polke, Mariola, Skorupinska, Julian, Blake, Alexander, Rossor, Matilde, Laura, John, Svaren, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.246Test

المؤلفون: 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

المساهمون: Investigators, The 100,000 Genomes Project Pilot

المصدر: 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/NEJMoa2035790Test

مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Adolescent, Pilot Projects, Genomics, Polymerase Chain Reaction, Genome, State Medicine, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Health care, Human Phenotype Ontology, Humans, Medicine, Child, Exome sequencing, 030304 developmental biology, Family Characteristics, 0303 health sciences, Whole Genome Sequencing, Genome, Human, business.industry, Genetic Variation, Rare Diseases/diagnosis, General Medicine, Middle Aged, United Kingdom, 3. Good health, Child, Preschool, Family medicine, Medical genetics, Female, business, Bristol, 030217 neurology & neurosurgery, Rare disease

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e7a9cb72d07e6534b79e777083f769Test
https://doi.org/10.1056/nejmoa2035790Test

المؤلفون: Riccardo, Ronco, Cecilia, Perini, Riccardo, Currò, Natalia, Dominik, Stefano, Facchini, Alice, Gennari, Roberto, Simone, Skye, Stuart, Sara, Nagy, Elisa, Vegezzi, Ilaria, Quartesan, Amar, El-Saddig, Timothy, Lavin, Arianna, Tucci, Agnieszka, Szymura, Luiz Eduardo, Novis De Farias, Alexander, Gary, Megan, Delfeld, Priscilla, Kandikatla, Nifang, Niu, Sanjukta, Tawde, Joseph, Shaw, James, Polke, Mary M, Reilly, Nick W, Wood, Emmanuele, Crespan, Christopher, Gomez, Jin Yun, Helen Chen, Jeremy Dan, Schmahmann, David, Gosal, Henry, Houlden, Soma, Das, Andrea, Cortese

المصدر: Neurology.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::99c5c9bef884747d0fc17c5c8b62c065Test
https://pubmed.ncbi.nlm.nih.gov/36289003Test

المؤلفون: Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A. Odhams, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki

المصدر: WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422Test(21)00462-2

مصطلحات موضوعية: Fragile X Mental Retardation Protein, DNA Repeat Expansion, Whole Genome Sequencing, Whole Genome Sequencing/methods, Humans, Neurology (clinical), Prospective Studies, Child, Fragile X Mental Retardation Protein/genetics, State Medicine, United Kingdom, Retrospective Studies

وصف الملف: text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8164460c3f9da55229a5e7da7b58924dTest
https://eprints.soton.ac.uk/455528Test/

المؤلفون: Beatrice Costa, Claudia Manzoni, Manuel Bernal-Quiros, Demis Kia, miquel aguilar, Ignacio Alvarez, Victoria Alvarez, Ole Andreassen, Maria Anfossi, Silvia Bagnoli, Luisa Benussi, Livia Bernardi, Giuliano Binetti, Daniel Blackburn, Mercè Boada, Barbara Borroni, Lucy Bowns, Geir Bråthen, Amalia Bruni, Huei-Hsin Chang, Jordi Clarimon, Shuna Colville, Maria Conidi, Tom Cope, Carlos Cruchaga, Chiara Cupidi, Maria Elena Di Battista, Janine Diehl-Schmid, Monica Diez-Fairen, Oriol Dols-Icardo, Elisabetta Durante, Dušan Flisar, Francesca Frangipane, Daniela Galimberti, Maura Gallo, Maurizio Gallucci, Roberta Ghidoni, Caroline Graff, Jordan Grafman, Murray Grossman, John Hardy, Isabel Hernandez, Guy Holloway, Edward Huey, Ignacio Illan-Gala, International FTD-Genomics Consortium, Anna Karydas, Behzad Khoshnood, Milica Kramberger, Mark Kristiansen, Patrick Lewis, Alberto Lleó, Gaganjit Kaur Madhan, Raffaele Maletta, Aleš Maver, Manuel Menendez-Gonzalez, Graziella Milan, Bruce Miller, Merel Mol, Parastoo Momeni, Sonia Moreno-Grau, Christopher Morris, Benedetta Nacmias, Christer Nilsson, Valeria Novelli, Linn Öijerstedt, Alessandro Padovani, Suvankar Pal, Yasmin Panchbhaya, Pau Pastor, Borut Peterlin, Irene Piaceri, Stuart Pickering-Brown, Jolande Pijnenburg, Annibale Puca, Innocenzo Rainero, Antonella Rendina, Anna Richardson, Ekaterina Rogaeva, Boris Rogelj, Sara Rollinson, Giacomina Rossi, Carola Rossmeier, James Rowe, Elisa Rubino, Agustin Ruiz, Raquel Sanchez-Valle, Sigrid Sando, Alexander Santillo, Jennifer Saxon, Elio Scarpini, Maria Serpente, Nicoletta Smirne, Sandro Sorbi, EunRan Suh, Fabrizio Tagliavini, Jennifer Thompson, John Trojanowski, Vivianna Van Deerlin, Julie Van der Zee, Christine Van Broeckhoven, Jeroen van Rooij, John Van Swieten, Arianna Veronesi, Emilia Vitale, Maria Waldö, Cathy Woodward, Jennifer Yokoyama, Valentina Escott-Price, James Polke, Raffaele Ferrari

مصطلحات موضوعية: Neurogenetics, Genetics not elsewhere classified, Neurosciences not elsewhere classified, C9orf72 repeat expansion, bvFTD, cohort analysis, age at onset, genetic ancestry, PCA analysis, FTD, FTLD, Semantic Dementia, PNFA, haplotype blocks, Neuroscience, Genetics

العلاقة: https://figshare.com/articles/dataset/Supplementary-Files-Neurology_pdf/12418157Test

الإتاحة: https://doi.org/10.5522/04/12418157Test
https://figshare.com/articles/dataset/Supplementary-Files-Neurology_pdf/12418157Test

المؤلفون: Sinéad M, Murphy, Daniela, Ernst, Yu, Wei, Matilde, Laurà, Yo-Tsen, Liu, James, Polke, Julian, Blake, John, Winer, Henry, Houlden, Thorsten, Hornemann, Mary M, Reilly

المصدر: Neurology. 80(23)

مصطلحات موضوعية: Adult, Sphingolipids, Phenotype, Mutation, Serine C-Palmitoyltransferase, Humans, Sequence Analysis, DNA, Hereditary Sensory and Autonomic Neuropathies, Article, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::ab9873d15f08a97f0ed247074859a07fTest
https://pubmed.ncbi.nlm.nih.gov/23658386Test