Diagnostic approach in adult-onset neurometabolic diseases

por Fernández-Eulate, Gorka, Carreau, Christophe, Benoist, Jean-François, Lamari, Foudil, Rucheton, Benoit, Shor, Natalia, Nadjar, Yann
Publicado 2022

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

por Fernández-Eulate, Gorka, Martin, Gilles C., Dureau, Pascal, Speeg-Spatz, Claude, Brassier, Anais, Gillard, Perrine, Bremond-Gignac, Dominique, Thouvenin, Dominique, Pagan, Cecile, Lamari, Foudil, Nadjar, Yann
Publicado 2022

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

por Verdura, Edgard, Schlüter, Agatha, Fernández‐Eulate, Gorka, Ramos‐Martín, Raquel, Zulaica, Miren, Planas‐Serra, Laura, Ruiz, Montserrat, Fourcade, Stéphane, Casasnovas, Carlos, López de Munain, Adolfo, Pujol, Aurora
Publicado 2019

T cells and immune functions of plasma extracellular vesicles are differentially modulated from adults to centenarians

por Alberro, Ainhoa, Osorio-Querejeta, Iñaki, Sepúlveda, Lucía, Fernández-Eulate, Gorka, Mateo-Abad, Maider, Muñoz-Culla, Maider, Carregal-Romero, Susana, Matheu, Ander, Vergara, Itziar, López de Munain, Adolfo, Sáenz-Cuesta, Matías, Otaegui, David
Publicado 2019

Blood Markers in Healthy-Aged Nonagenarians: A Combination of High Telomere Length and Low Amyloidβ Are Strongly Associated With Healthy Aging in the Oldest Old

por Fernández-Eulate, Gorka, Alberro, Ainhoa, Muñoz-Culla, Maider, Zulaica, Miren, Zufiría, Mónica, Barandiarán, Myriam, Etxeberria, Igone, Yanguas, José Javier, Gallardo, Maria Mercedes, Soberón, Nora, Lacosta, Ana María, Pérez-Grijalba, Virginia, Canudas, Jesús, Fandos, Noelia, Pesini, Pedro, Sarasa, Manuel, Indakoetxea, Begoña, Moreno, Fermin, Vergara, Itziar, Otaegui, David, Blasco, Maria, López de Munain, Adolfo
Publicado 2018

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

por Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, Latour, Philippe, Reilly, Mary M., Bouhour, Francoise, Stojkovic, Tanya
Publicado 2023

Gut microbiome and serum metabolome analyses identify molecular biomarkers and altered glutamate metabolism in fibromyalgia

por Clos-Garcia, Marc, Andrés-Marin, Naiara, Fernández-Eulate, Gorka, Abecia, Leticia, Lavín, José L., van Liempd, Sebastiaan, Cabrera, Diana, Royo, Félix, Valero, Alejandro, Errazquin, Nerea, Vega, María Cristina Gómez, Govillard, Leila, Tackett, Michael R., Tejada, Genesis, Gónzalez, Esperanza, Anguita, Juan, Bujanda, Luis, Orcasitas, Ana María Callejo, Aransay, Ana M., Maíz, Olga, López de Munain, Adolfo, Falcón-Pérez, Juan Manuel
Publicado 2019

A multicentre validation study of the diagnostic value of plasma neurofilament light

por Ashton, Nicholas J., Janelidze, Shorena, Al Khleifat, Ahmad, Leuzy, Antoine, van der Ende, Emma L., Karikari, Thomas K., Benedet, Andrea L., Pascoal, Tharick A., Lleó, Alberto, Parnetti, Lucilla, Galimberti, Daniela, Bonanni, Laura, Pilotto, Andrea, Padovani, Alessandro, Lycke, Jan, Novakova, Lenka, Axelsson, Markus, Velayudhan, Latha, Rabinovici, Gil D., Miller, Bruce, Pariante, Carmine, Nikkheslat, Naghmeh, Resnick, Susan M., Thambisetty, Madhav, Schöll, Michael, Fernández-Eulate, Gorka, Gil-Bea, Francisco J., López de Munain, Adolfo, Al-Chalabi, Ammar, Rosa-Neto, Pedro, Strydom, Andre, Svenningsson, Per, Stomrud, Erik, Santillo, Alexander, Aarsland, Dag, van Swieten, John C., Palmqvist, Sebastian, Zetterberg, Henrik, Blennow, Kaj, Hye, Abdul, Hansson, Oskar
Publicado 2021