Redefining infantile-onset multisystem phenotypes of coenzyme Q(10)-deficiency in the next-generation sequencing era

por Berardo, Andres, Quinzii, Catarina M.
Publicado 2020

Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies

por Berardo, Andres, Domínguez-González, Cristina, Engelstad, Kristin, Hirano, Michio
Publicado 2022

Blockade of Rho-associated kinase prevents inhibition of axon regeneration of peripheral nerves induced by anti-ganglioside antibodies

por Berardo, Andrés, Bacaglio, Cristian R., Báez, Bárbara B., Sambuelli, Rubén, Sheikh, Kazim A., Lopez, Pablo H. H.
Publicado 2023

Severe axonal neuropathy is a late manifestation of SPG11

por Manole, Andreea, Chelban, Viorica, Haridy, Nourelhoda A., Hamed, Sherifa A., Berardo, Andrés, Reilly, Mary M., Houlden, Henry
Publicado 2016

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

por Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
Publicado 2019

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

por Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jimenez-Mallebrera, Cecilia
Publicado 2020