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Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Davina J. Hensman Moss, Antonio F. Pardiñas, Douglas R. Langbehn, Kitty Lo, Blair R. Leavitt, Raymund A.C. Roos, Alexandra Dürr, Simon Mead, A. Coleman, R. Dar Santos, Joji Decolongon, Aaron Sturrock, Éric Bardinet, C Jauff Ret, Damián Justo, Stéphane Lehéricy, Cécilia Marelli, K Nigaud, Romain Valabrègue, S. van den Bogaard, Eve M. Dumas, Jeroen van der Grond, EP t'Hart, Caroline K. Jurgens, M-N Witjes-Ane, Natalie Arran, Jenny Callaghan, Cheryl Stopford, Chris Frost, Rebecca Jones, Nicola Z. Hobbs, Nayana Lahiri, Roger J. Ordidge, Gail Owen, Tracey Pepple, Joy Read, M Say, Edward J. Wild, Aakta Patel, Nick C. Fox, Clare R. Gibbard, Ian B. Malone, Helen Crawford, D. Whitehead, Stephen Keenan, David M. Cash, C. Berna, N Bechtel, Stefan Bohlen, Alana Man, P Kraus, Eric Axelson, Chen Wang, T. Acharya, Sang Lee, W Monaco, Colin Campbell, Sarah Queller, Kathryn B. Whitlock, Melissa Campbell, E Frajman, C Milchman, Alison O’Regan, Izelle Labuschagne, Julie C. Stout, G. Bernhard Landwehrmeyer, David Craufurd, Rachael I. Scahill, S. Hicks, Christopher Kennard, Hans J. Johnson, Allan J. Tobin, H. Diana Rosas, Ralf Reilmann, Beth Borowsky, C Pourchot, Sophie C. Andrews, Anne‐Catherine Bachoud‐Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael M. Bonelli, Stephen B. Dunnett, Joaquim J. Ferreira, Arvid Heiberg, Torsten Illmann, Jamie Levey, María A. Ramos-Arroyo, Jørgen E. Nielsen, Susana Pro Koivisto, Markku Päivärinta, Ana Rojo Sebastián, Sarah J. Tabrizi, Wim Vandenberghe, Christine Verellen‐Dumoulin, Tereza Uhrová, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Mónica Bascuñana Garde, Sabrina Betz, Reineke Bos, Adrien Come, Leonor Correia Guedes, Daniel Ecker, Ana Maria Finisterra, Mette Gilling, Lena Gustafsson, Olivia Handley, Carina Hvalstedt, Christine Held, Kerstin Koppers, Claudia Lamanna, Matilde Laurá, Asunción Martínez Descals, Saül Martínez‐Horta, Tiago Mestre, Sara Minster, Lisanne Mütze, Martin Oehmen, Hélène Padieu, Laurent Paterski, Martina Di Renzo, Amandine Rialland, Niini Røren, Pavla Šašinková, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Wildson Vieira da Silva, Carina Whalstedt, Marie‐Noëlle W. Witjes‐Ané, Grzegorz Witkowski, Abigail Wright, K. Hecht, Brigitte Herranhof, Anna Holl, Hans‐Peter Kapfhammer, Michael Koppitz, Markus Magnet, Nicole Müller, Daniela Otti, Annamaria Painold, Karin Reisinger, Monika Scheibl, Helmut Schöggl, Jasmin Ullah, Eva-Maria Braunwarth, Florian Brugger, Lisa Buratti, Eva‐Maria Hametner, Caroline Hepperger, Christiane Holas, Anna Hotter, Anna Hussl, Christoph Müller, Werner Poewe, Klaus Seppi, Fabienne Sprenger, Gregor K. Wenning, Andrea Boogaerts, Godelinde Calmeyn, Isabelle Delvaux, Dirk Liessens, Nele Somers, Michel Dupuit, Cécile Minet, Dominique Van Paemel, Pascale Ribaı̈, Dimphna van Reijen, Jiří Klempíř, Veronika Majerová, Jan Roth, Irena Stárková, Lena E. Hjermind, O. Jacobsen, Ida Unmack Larsen, Tua Vinther‐Jensen, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Adriana Prundean, Clarisse Scherer‐Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Rekha Barthélémy, Christelle De Bruycker, Maryline Cabaret Anne-Sophie Carette, Eric Decorte Luc Defebvre, Marie Delliaux, Arnaud Delval, A. Destée, Kathy Dujardin, Marie-Hélène Lemaire, Sylvie Manouvrier, Mireille Peter, Lucie Plomhouse, Bernard Sablonnière, C. Simonin, Stéphanie Thibault-Tanchou, Isabelle Vuillaume, Marcellin Bellonet, Hassan Berrissoul, Stéphanie Blin, Françoise Courtin, Cécile Duru, Véronique Fasquel, Olivier Godefroy, Pierre Krystkowiak, Béatrice Mantaux, Martine Roussel, Sandrine Wannepain, Jean‐Philippe Azulay, Marie Delfini, Alexandre Eusébio, Frédérique Fluchère, Laura Mundler, Mathieu Anheim, Celine Julié, Ouhaid Lagha Boukbiza, Nadine Longato, Gabrielle Rudolf, Christine Tranchant, Marie-Agathe Zimmermann, Christoph M. Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Saß, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Josef Priller, Harald Prüß, Eike Jakob Spruth, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara J. Kaminski, Peter Kotz, Christian Prehn, Carsten Saft, Herwig W. Lange, Robert Maiwald, Matthias Löhle, Antonia Maass, Simone Schmidt, Cecile Bosredon, Alexander Storch, Annett Wolz, Martin Wolz, Philipp Capetian, Johann Lambeck, Birgit Zucker, Kai Boelmans, Christos Ganos, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Michael Orth, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Heike Gorzolla, Christoph Schrader, Paweł Tacik, Michael Ribbat, Bernhard Longinus, Katrin Bürk, Jens Carsten Möller, Ida Rissling, Mark Mühlau, Alexander Peinemann, Michael Städtler, A. Weindl, Juliane Winkelmann, Cornelia Ziegler, H Beckmann, E. Hölzner, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Natalia Weber, Matthias Dose, Gabriele Leythäuser, Ralf Marquard, Tina Raab, Alexandra Wiedemann, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Christina Lang, Franziska Lezius, Solveig Nepper, Anke Niess, A. Schneider, Daniela Schwenk, Sigurd D. 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Genitrini, Caterina Mariotti, Lorenzo Nanetti, Dominga Paridi, Paola Soliveri, Chiara Tomasello, Giuseppe De Michele, Luigi Di Maio, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Elena Salvatore, Pierpaolo Sorrentino, Enrico Amico, Μariagrazia Favellato, Annamaria Griguoli, Irene Mazzante, Martina Petrollini, Ferdinando Squitieri, Barbara D’Alessio, Chiara Esposito, Rita Bentivoglio, Marina Frontali, Arianna Guidubaldi, Tàmara Ialongo, Gioia Jacopini, Carla Piano, Silvia Romano, Francesco Soleti, M. Spadaro, Monique S.E. van Hout, Marloes Verhoeven, Jeroen P.P. van Vugt, A. Marit de Weert, J.J.W. Bolwijn, M. Dekker, B. Kremer, Klaus L. Leenders, Joost C.H. van Oostrom, Simon J.A. van den Bogaard, Ellen P. Hart, Berry Kremer, C.C.P. Verstappen, Olaf Aaserud, Jan Frich C, Ragnhild Wehus, Kathrine Bjørgo, Madeleine Fannemel, Per F. Gørvell, Eirin Lorentzen, Lars Retterstøl, Bodil Stokke, Inga Bjørnevoll, Sigrid Botne Sando, Artur Dziadkiewicz, Małgorzata Nowak, Piotr Robowski, Emilia J. Sitek, Jarosław Sławek, Witold Sołtan, Michal Szinwelski, Magdalena Blaszcyk, Magdalena Boczarska‐Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasińska‐Myga, Gabriela Kłodowska-Duda, Gregorz Opala, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Boćwińska, Kamila Bojakowska-Jaremek, Małgorzata Dec, Małgorzata Krawczyk, Monika Rudzińska, Elżbieta Szczygieł, Andrzej Szczudlik, Anna Wasielewska, Magdalena Wójcik-Pędziwiatr, Anna Bryl, Anna Ciesielska, Aneta Klimberg, T Marcinkowski, Husam Samara, Justyna Sempołowicz, Anna Gogol, Piotr Janik, Hubert Kwieciński, Zygmunt Jamrozik, Jakub Antczak, Katarzyna Jachińska, Wioletta Krysa, P Richter, Rafał Rola, Danuta Ryglewicz, Halina Sienkiewicz‐Jarosz, Iwona Stępniak, Anna Sułek, Elżbieta Zdzienicka, Karolina Zieora-Jakutowicz, Miguel Coelho, Tiago Mendes, Anabela Valadas, Carlos Andrade, Miguel Gago, Carolina Garrett, Maria Rosália Guerra, Carmen Herrera-Espiñeira, Patrocinio Moreno Garcia, Miquel Aguilar Barberà, Dolors Badenes Guia, Laura Casas Hernanz, Judit López Catena, Pilar Ferrer, Gemma Tome Carruesco, Jordi Bas, Núria Busquets, Matilde Calopa, Misericordia Floriach Robert, Cèlia Mareca Viladrich, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Esther Cubo, Cecilia Gil Polo, Natividad Mariscal, Perez Jessica Rivadeneyra, Francisco Javier Barrero, Blas Morales, María del Mar Fenollar, Rocío García-Ramos García, Paloma Ortega, Clara Villanueva, Mónica Bascuñana, Juan García Caldentey, Marta Fatás Ventura, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón, Fernando Alonso Frech, Pedro Ruiz, Asunción Martínez‐Descals, Rosa Guerrero, María José Saiz Artiga, Vicenta Sánchez, María Fuensanta Noguera Perea, Lorenza Fortuna, Salvadora Manzanares, Gema Reinante, María Martirio Antequera Torres, L. Vivancos, Carlos Salvador, Esther Suaréz San Martín, Inés Legarda Ramirez, Aranzazú Gorospe, Mónica Rodriguez Lopera, Penelope Navas Arques, M. Rodriguez, Barbara Vives Pastor, Itziar Gastón, Maria Dolores Martinez-Jaurrieta, José Manuel García Moreno, Carolina Méndez Lucena, Fatima Damas, Hermoso Eva Pacheco Cortegana, José Chacón Peña, Fátima Carrillo, Maria Teresa Fernández Cáceres, Pablo Mir, María José Lama Suarez, Laura Vargas‐González, María Eugenia Boscá Blasco, Francisco Castera Brugada, J A Burguera, Anabel Campos, Garcia Carmen Peiró Vilaplana, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Hösterey-Ugander, Petra Linnsand, Liselotte Neleborn-Lingefjärd, M.J. Wentzel, Ghada Loutfi, Carina Olofsson, Eva-Lena Stattin, L. Westman, Birgitta Wikström, Yanik Stebler, Alain Kaelin‐Lang, Irene Gallego Romero, Michaël Schüpbach, Sabine Weber Zaugg, Maria Hauer, Roman Gonzenbach, Hans H. Jung, Violeta Mihaylova, Jens A. Petersen, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, D. O. Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughan, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Matthew Armstrong, Roger A. Barker, Deidre O’Keefe, Anna Di Pietro, Kate Fisher, Anna Goodman, Susan Hill, Ann Kershaw, Sarah Mason, Nicole D. Paterson, Lucy Raymond, Rachel Swain, Natalie Valle Guzman, Monica Busse, Cynthia Butcher, Catherine Clenaghan, Ruth Fullam, Sarah Hunt, L. Jones, Una Jones, Hanan Khalil, Michael J. Owen, Kathleen Price, Anne Rosser, Maureen P. Edwards, Carrie Ho, Teresa Hughes, Marie McGill, Pauline Pearson, Mary K. Porteous, Paul Smith, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Liz Burrows, Carol Chu, Amy Fletcher, Deena Gallantrae, Stephanie Hamer, Alison Harding, Stefan Klöppel, Alison Kraus, Fiona Laver, Monica Lewis, Mandy Longthorpe, Nicola J. Robertson, Mark Silva, Aileen Thomson, Sue Wild, Pam Yardumian, Carole Evans, Deena Gallentrae, Ashok Raman, Emma Hobson, Stuart W. Jamieson, Ivana S. Marková, Hannah Musgrave, Liz Rowett, Jean Toscano, Colin Bourne, Jackie Clapton, Carole Clayton, Heather Dipple, Dawn Freire-Patino, Janet Grant, Diana Gross, Caroline Hallam, Julia Middleton, Ann Murch, Catherine Thompson, Sundus Alusi, Rhys Davies, Kevin Foy, Emily Gerrans, Louise Pate, Thomasin Andrews, Andrew Dougherty, Charlotte Golding, Fred Kavalier, Hana Laing, Alison Lashwood, Dene Robertson, Deborah Ruddy, Alastair Santhouse, Anna Whaite, Stefania Bruno, Karen A. Doherty, Salman Haider, Marianne Novak, Elisabeth Rosser, Rachel Taylor, Thomas T. Warner, Judith Bek, Marianne Hare, Liz Livingston Howard, Susan Huson, Liz Johnson, Mary Pat Jones, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Dawn Rogers, Andrea Sollom, Julie S. Snowden, J. C. Thompson, Iris Trender‐Gerhard, Nichola Verstraelen, Leann Westmoreland, Richard Armstrong, K. Dixon, Andrea H. Németh, Gill Siuda, Ruth A. Valentine, David J. Harrison, Max Hughes, Andrew Parkinson, Beverley Soltysiak, Oliver Bandmann, Alyson Bradbury, Paul R. Gill, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Mbombe Kazoka, Kirsty O’Donovan, Cat Taylor, Katherine Tidswell, Oliver Quarrell, Jean‐Marc Burgunder, Puay Ngoh Lau, Emmanul Pica, Louis C.S. Tan, Peter Holmans
Bibliographic record
VenueThe Lancet Neurology · 2017
Typearticle
Languageen
FieldNeuroscience
TopicGenetic Neurodegenerative Diseases
Canadian institutionsUniversity of British Columbia
FundersUCLH Biomedical Research CentreMedical Research CouncilSeventh Framework ProgrammeEuropean CommissionRosetrees TrustGuarantors of BrainResearch Councils UKBrain Research TrustNovartisNational Institute for Health and Care ResearchRocheWellcome TrustAgence Nationale de la RechercheCHDI Foundation
KeywordsHuntington's diseaseDiseaseGenetic associationGenome-wide association studyTrinucleotide repeat expansionGeneticsMedicineOncologyBiologyBioinformaticsInternal medicineAlleleGeneGenotypeSingle-nucleotide polymorphism
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.008
Threshold uncertainty score0.017
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.033
GPT teacher head0.298
Teacher spread0.265 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations332
Published2017
Admission routes1
Has abstractno