Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

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medRxiv- (2024) p. 1-51
Auteur(s)
    Cyril Pottier, Fahri Küçükali, Matt Baker, Anthony Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa Murray, Júlia Faura Llorens, Stephen J. Haggarty, Jeroen G.J. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Öijerstedt, Manuela Neumann, Yan Asmann, Shannon K. McDonnell, Saurabh Baheti, Keith A. Josephs, Jennifer L. Whitwell, Kevin F. Bieniek, Leah Forsberg, Hilary Heuer, Argentina Lario Lago, Ethan G. Geier, Jennifer S. Yokoyama, Alexis P. Oddi, Margaret Flanagan, Qinwen Mao, John R. Hodges, John B. Kwok, Kimiko Domoty-Reilly, Matthis Synofzik, Carlo Wilke, Chiadi Onyike, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, David G. Munoz, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, EunRan Suh, Kristel Sleegers, Rosa Rademakers

Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

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Molecular neurodegeneration - ISSN 1750-1326-19:1 (2024) p. 1-16
Auteur(s)
    Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yebenes, Alberto Rabano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Mueller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White III, Huw Morris, Rohan de Silva, John F. Crary, Wan-Ping Lee

Scywalker : scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing

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Bioinformatics - ISSN 1367-4803-40:9 (2024) p. 1-10
Auteur(s)

Gene-specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration

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Neurology - ISSN 0028-3878-103:8 (2024) p. 1-15
Auteur(s)
    Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K. Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle E. Brushaber, Adam M. Staffaroni, Daniel H. Geschwind, Amy A. Wolf, Kejal Kantarci, Tania Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea C. Bozoki, David Clark, R. Ryan Darby, Bradford C. Dickerson, Kimiko Domoto-Reilly, Julie A. Fields, Douglas Galasko, Nupur Ghoshal, Neill R. Graff-Radford, Ian M. Grant, Lawrence S. Honig, Ging-Yuek R. Hsiung, Edward D. Huey, David J. Irwin, David S. Knopman, Justin Y. Kwan, Gabriel C. Léger, Irene Litvan, Joseph C. Masdeu, Mario F. Mendez, Chiadi U. Onyike, Belen Pascual, Peter S. Pressman, Aaron Ritter, Erik D. Roberson, Allison Snyder, Anna Campbell Sullivan, Maria Carmela Tartaglia, Dylan Wint, Rosa Rademakers

Accumulation of TMEM106B C-terminal fragments in Niemann-Pick type C disease

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Journal of neuropathology and experimental neurology - ISSN 0022-3069- (2024) p.
Auteur(s)