Search Results - Roger Collet
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A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca 2+ ‐ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy by Laura Llansó, Gianina Ravenscroft, Cristina Aceituno, Antonio Gutiérrez, Jevin Parmar, Pia Gallano, Marta Caballero‐Ávila, Álvaro Carbayo, Ana Vesperinas, Roger Collet, Rosa Blanco, Nigel Laing, Leif Hove‐Madsen, Eduard Gallardo, Montse Olivé
Published 2025Get full text
Artículo Open Access -
2
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features by Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé
Published 2025Get full text
Artículo Open Access -
3
Long‐Term Follow Up in Anti‐Contactin‐1 Autoimmune Nodopathy by Marta Caballero‐Ávila, Lorena Martín‐Aguilar, Elba Pascual‐Goñi, Milou R. Michael, Marleen J.A. Koel‐Simmelink, Romana Höftberger, Julia Wanschitz, Alicia Alonso‐Jiménez, Thais Armangué, Adája Elisabeth Baars, Álvaro Carbayo, Barbara Castek, Roger Collet‐Vidiella, Jonathan De Winter, Maria Ángeles 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 Martínez‐Martínez, Eduardo Nobile‐Orazio, Nicolau Ortiz, Helena Pérez‐Pérez, 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, Tomàs Xuclà‐Ferrarons, Fabian Zach, Luuk Wieske, Filip Eftimov, Cinta Lleixà, Luis Querol
Published 2024Get full text
Artículo Open Access