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

Bron
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

Bron
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

The growing role of telerehabilitation and teleassessment in the management of movement disorders in rare neurological diseases : a scoping review

Bron
Telemedicine and e-health - ISSN 1556-3669-30:9 (2024) p. 2419-2430
Auteur(s)
    Luigi Lavorgna, Elisabetta Maida, Carola Reinhard, Patrick Cras, Kathrin Reetz, Maria Judit Molnar, Jorik Nonnekes, Kadri Medijainen, Susanna Summa, Karin Diserens, Maurizio Petrarca, Alberto Albanese, Letizia Leocani, Marianna Delussi, Claudia Vinciguerra, Emanuela Pagliano, Jadwiga Kubica, Pauline Lallemant, Gregor Wenning, Deborah Sival, Katja Groleger Srsen, Enrico Silvio Bertini, Giovanna Lopane, Sylvia Boesch, Simona Bonavita, David Crosiers, Dafin Muresanu, Dagmar Timmann, Antonio Federico