Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

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Brain - ISSN 1460-2156- (2025) p.
Auteur(s)
    Viorica Chelban, David Pellerin, Nirosen Vijiaratnam, Hamin Lee, Yen Yee Goh, Lauren Brown, Sara Sambin, Danielle Seilhean, Stephane Lehericy, Pablo Iruzubieta, Rahema Mohammad, Eleanor Self, Annarita Scardamaglia, Cameron Lee, Miriama Ostrozovicova, Marie-Josée Dicaire, Christine Girges, Emil K. Gustavsson, David Murphy, Toby Curless, Joshua Laβ, Joanne Trinh, Timothy Rittman, James B. Rowe, Marios Hadjivassiliou, Neil Archibald, Matt C. Danzi, Catherine Ashton, Virginie Roth, Marion Wandzel, Warren A. Cheung, Djordje O. Gveric, Bart De Vil, Jordan Follett, P. Nigel Leigh, Lukas Beichert, Tomi Pastinen, Céline Bonnet, Mathilde Renaud, Wassilios G. Meissner, Anne Sieben, David Crosiers, Patrick Cras, Stephan Zuchner, Jean-Christophe Corvol, Matthew J. Farrer, Matthis Synofzik, Bernard Brais, Tom Warner, Henry Houlden

Creating the Pick’s disease International Consortium: Association study of MAPT H2 haplotype with risk of Pick’s disease

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medRxiv-23:5 (2024) p. 487-499
Auteur(s)
    Rebecca R. Valentino, William J. Scotton, Shanu F. Roemer, Tammaryn Lashley, Michael G. Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L. Walton, Matthew C. Baker, Hannah L. Macpherson, Raquel Real, Alexandra I. Soto-Beasley, Kin Mok, Tamas Revesz, Elizabeth A. Christopher, Michael DeTure, William W Seeley, Edward B. Lee, Matthew P. Frosch, Laura Molina-Porcel, Tamar Gefen, Javier Redding-Ochoa, Bernardino Ghetti, Andrew C. Robinson, Christopher Kobylecki, James B. Rowe, Thomas G. Beach, Andrew F. Teich, Julia L. Keith, Istvan Bodi, Glenda M. Halliday, Marla Gearing, Thomas Arzberger, Christopher M. Morris, Charles L. White, Naguib Mechawar, Susana Boluda, Ian R. MacKenzie, Catriona McLean, Matthew D. Cykowski, Shih-Hsiu J. Wang, Caroline Graff, Rashed M. Nagra, Rosa Rademakers, Anne Sieben, Patrick Cras, Bart De Vil, Peter Paul De Deyn, Pick's disease International Consortium

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium : a genetic association study.

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The Lancet: neurology - ISSN 1474-4465-23:5 (2024) p. 487-499
Auteur(s)
    Rebecca R. Valentino, William J. Scotton, Shanu F. Roemer, Tammaryn Lashley, Michael G. Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L. Walton, Matthew C. Baker, Hannah L. Macpherson, Raquel Real, Alexandra I. Soto-Beasley, Kin Mok, Tamas Revesz, Elizabeth A. Christopher, Michael DeTure, William W Seeley, Edward B. Lee, Matthew P. Frosch, Laura Molina-Porcel, Tamar Gefen, Javier Redding-Ochoa, Bernardino Ghetti, Andrew C. Robinson, Christopher Kobylecki, James B. Rowe, Thomas G. Beach, Andrew F. Teich, Julia L. Keith, Istvan Bodi, Glenda M. Halliday, Marla Gearing, Thomas Arzberger, Christopher M. Morris, Charles L. White, Naguib Mechawar, Susana Boluda, Ian R. MacKenzie, Catriona McLean, Matthew D. Cykowski, Shih-Hsiu J. Wang, Caroline Graff, Rashed M. Nagra, Rosa Rademakers, Anne Sieben, Patrick Cras, Bart De Vil, Peter Paul De Deyn, Pick's disease International Consortium

Concordance of cerebrospinal fluid real-time quaking-induced conversion across the European Creutzfeldt-Jakob Disease Surveillance Network

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European journal of neurology - ISSN 1351-5101-29:8 (2022) p. 2431-2438
Auteur(s)
    Neil McKenzie, Gabriele Piconi, Audrey Culeux, Anna-Lena Hammarin, Christos Stergiou, Socrates Tzartos, Alexandra A.M. Versleijen, Jacqueline van de Geer, Patrick Cras, Franco Cardone, Anna Ladogana, Angela Mannana, Marcello Rossi, Matilde Bongianni, Daniela Perra, Guenther Regelsberger, Sigrid Klotz, Simone Hornemann, Adriano Aguzzi, Matthias Schmitz, Mary Andrews, Kimberley Burns, Stephane Haik, Raquel Ruiz-Garcia, Jenny Verner-Carlsson, John Tzartos, Marcel M. Verbeek, Bart De Vil, Anna Poleggi, Piero Parchi, Gianluigi Zanusso, Ellen Gelpi, Karl Frontzek, Regina Reimann, Peter Hermann, Inga Zerr, Suvankar Pal, Alison Green