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

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations

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Brain - ISSN 0006-8950-145:7 (2022) p. 2472-2485
Auteur(s)
    Cyril Pottier, Ligia Mateiu, Matthew C. Baker, Mariely DeJesus-Hernandez, Cristina Vicente, NiCole A. Finch, Shulan Tian, Marka van Blitterswijk, Melissa E. Murray, Yingxue Ren, Leonard Petrucelli, Björn Oskarsson, Joanna M. Biernacka, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, Keith A. Josephs, Yan W. Asmann, Dennis W. Dickson, Rosa Rademakers

An internal promoter drives the expression of a truncated form of CCC1 capable of protecting yeast from iron toxicity

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Microorganisms - ISSN 2076-2607-9:6 (2021) p. 1-14
Auteur(s)
    Catarina Amaral, Cristina Vicente, Soraia Marques Caetano, Ana Gaspar-Cordeiro, Yang Yang, Peter Cloetens, Célia V. Romão, Claudina Rodrigues-Pousada, Catarina Pimentel