Long-term follow up in anti-contactin-1 autoimmune nodopathy

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Annals of neurology - ISSN 0364-5134- (2024) p.
Auteur(s)
    Marta Caballero-avila, Lorena Martin-Aguilar, Elba Pascual-Goni, Milou R. Michael, Marleen J.A. Koel-Simmelink, Romana Hoeftberger, Julia Wanschitz, Alicia Alonso Jimenez, Thais Armangue, Adaja Elisabeth Baars, Alvaro Carbayo, Barbara Castek, Roger Collet-Vidiella, Jonathan De Winter, Maria angeles del Real, Emilien Delmont, Luca Diamanti, Pietro Emiliano Doneddu, Fu Liong Hiew, Eduard Gallardo, Amaia Gonzalez, Susanne Grinzinger, Alejandro Horga, Stephan Iglseder, Bart C. Jacobs, Amaia Jauregui, Joep Killestein, Elisabeth Lindeck Pozza, Laura Martinez-Martinez, Eduardo Nobile-Orazio, Nicolau Ortiz, Helena Perez-Perez, Kai-Nicolas Poppert, Paolo Ripellino, Jose Carlos Roche, Franscisco Javier Rodriguez de Rivera, Kevin Rostasy, Davide Sparasci, Clara Tejada-Illa, Charlotte C. E. Teunissen, Elisa Vegezzi, Tomas Xucla-Ferrarons, Fabian Zach, Luuk Wieske, Filip Eftimov, Cinta Lleixa, Luis Querol

Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix-Saguenay

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Brain communications - ISSN 2632-1297-6:4 (2024) p. 1-9
Auteur(s)
    Daniele De Ritis, Laura Ferre, Jonathan De Winter, Clemence Tremblay-Desbiens, Mathieu Blais, Maria Teresa Bassi, Nicolas Dupre, Jonathan Baets, Massimo Filippi, Francesca Maltecca

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

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Brain - ISSN 0006-8950-146:12 (2023) p. 4880-4890
Auteur(s)
    Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laura, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro J. Tomaselli, Martin Ungelenk, Karlien Y. Debus, Shawna M.E. Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta M. Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra-Ramírez, Maryse Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques Junior, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello-Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji M. Devassikutty, Vincent Timmerman, Jonathan De Winter, Jonathan Baets, Ingo Kurth