Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child

por Carrera-García, Laura, Natera-de Benito, Daniel, Lleixà, Cinta, Ortez, Carlos, Colomer, Jaume, Nascimento, Andrés, Saiz, Albert, Dalmau, Josep, Querol, Luis, Armangué, Thaís
Publicado 2019

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

por Pijuan, Jordi, Cantarero, Lara, Natera-de Benito, Daniel, Altimir, Arola, Altisent-Huguet, Anna, Díaz-Osorio, Yaiza, Carrera-García, Laura, Expósito-Escudero, Jessica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc
Publicado 2022

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

por Natera‐de Benito, Daniel, Olival, Jonathan, Garcia‐Cabau, Carla, Jou, Cristina, Roldan, Mònica, Codina, Anna, Expósito‐Escudero, Jessica, Batlle, Cristina, Carrera‐García, Laura, Ortez, Carlos, Salvatella, Xavier, Palau, Francesc, Nascimento, Andrés, Hoenicka, Janet
Publicado 2023

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

por Trifunov, Selena, Natera-de Benito, Daniel, Carrera-García, Laura, Codina, Anna, Expósito-Escudero, Jesica, Ortez, Carlos, Medina, Julita, Torres Alcala, Soraya, Bernal, Sara, Alias, Laura, Badosa, Carmen, Balsells, Sol, Alcolea, Daniel, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2023

Pathological Features in Paediatric Patients with TK2 Deficiency

por Jou, Cristina, Nascimento, Andres, Codina, Anna, Montoya, Julio, López-Gallardo, Ester, Emperador, Sonia, Ruiz-Pesini, Eduardo, Montero, Raquel, Natera-de Benito, Daniel, Ortez, Carlos I., Marquez, Jesus, Zelaya, Maria V., Gutierrez-Mata, Alfonso, Badosa, Carmen, Carrera-García, Laura, Expósito-Escudero, Jesica, Roldán, Monica, Camara, Yolanda, Marti, Ramon, Ferrer, Isidre, Jimenez-Mallebrera, Cecilia, Artuch, Rafael
Publicado 2022

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

por Cesar, Sergi, Coll, Monica, Fiol, Victoria, Fernandez-Falgueras, Anna, Cruzalegui, Jose, Iglesias, Anna, Moll, Isaac, Perez-Serra, Alexandra, Martínez-Barrios, Estefanía, Ferrer-Costa, Carles, del Olmo, Bernat, Puigmulè, Marta, Alcalde, Mireia, Lopez, Laura, Pico, Ferran, Berrueco, Rubén, Brugada, Josep, Zschaeck, Irene, Natera-de Benito, Daniel, Carrera-García, Laura, Exposito-Escudero, Jessica, Ortez, Carlos, Nascimento, Andrés, Brugada, Ramon, Sarquella-Brugada, Georgia, Campuzano, Oscar
Publicado 2023