The impact of gender, puberty, and pregnancy in patients with POLG disease

por Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Samsonsen, Christian, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Rene, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.
Publicado 2020

The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

por Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, de Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén
Publicado 2022

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

por Jou, Cristina, Ortigoza-Escobar, Juan D., O’Callaghan, Maria M., Nascimento, Andres, Darling, Alejandra, Pias-Peleteiro, Leticia, Perez-Dueñas, Belén, Pineda, Mercedes, Codina, Anna, Arjona, César, Armstrong, Judith, Palau, Francesc, Ribes, Antonia, Gort, Laura, Tort, Frederic, Navas, Placido, Ruiz-Pesini, Eduardo, Emperador, Sonia, Lopez-Gallardo, Ester, Bayona-Bafaluy, Pilar, Montero, Raquel, Jimenez-Mallebrera, Cecilia, Garcia-Cazorla, Angels, Montoya, Julio, Yubero, Delia, Artuch, Rafael
Publicado 2019

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

por Peters, Tessa M. A., Merx, Jona, Kooijman, Pieter C., Noga, Marek, de Boer, Siebolt, van Gemert, Loes A., Salden, Guido, Engelke, Udo F. H., Lefeber, Dirk J., van Outersterp, Rianne E., Berden, Giel, Boltje, Thomas J., Artuch, Rafael, Pías‐Peleteiro, Leticia, García‐Cazorla, Ángeles, Barić, Ivo, Thöny, Beat, Oomens, Jos, Martens, Jonathan, Wevers, Ron A., Verbeek, Marcel M., Coene, Karlien L. M., Willemsen, Michèl A. A. P.
Publicado 2022

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

por Martínez-Rubio, Dolores, Hinarejos, Isabel, Sancho, Paula, Gorría-Redondo, Nerea, Bernadó-Fonz, Raquel, Tello, Cristina, Marco-Marín, Clara, Martí-Carrera, Itxaso, Martínez-González, María Jesús, García-Ribes, Ainhoa, Baviera-Muñoz, Raquel, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Duat-Rodríguez, Anna, Janeiro, Patrícia, Moreno, Esther, Pías-Peleteiro, Leticia, Gordo, Mar O’Callaghan, Ruiz-Gómez, Ángeles, Muñoz, Esteban, Martí, Maria Josep, Sánchez-Monteagudo, Ana, Fuster, Candela, Andrés-Bordería, Amparo, Pons, Roser Maria, Jesús-Maestre, Silvia, Mir, Pablo, Lupo, Vincenzo, Pérez-Dueñas, Belén, Darling, Alejandra, Aguilera-Albesa, Sergio, Espinós, Carmen
Publicado 2022

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

por Balestrini, Simona, Mikati, Mohamad A., Álvarez-García-Rovés, Reyes, Carboni, Michael, Hunanyan, Arsen S., Kherallah, Bassil, McLean, Melissa, Prange, Lyndsey, De Grandis, Elisa, Gagliardi, Alessandra, Pisciotta, Livia, Stagnaro, Michela, Veneselli, Edvige, Campistol, Jaume, Fons, Carmen, Pias-Peleteiro, Leticia, Brashear, Allison, Miller, Charlotte, Samões, Raquel, Brankovic, Vesna, Padiath, Quasar S., Potic, Ana, Pilch, Jacek, Vezyroglou, Aikaterini, Bye, Ann M.E., Davis, Andrew M., Ryan, Monique M., Semsarian, Christopher, Hollingsworth, Georgina, Scheffer, Ingrid E., Granata, Tiziana, Nardocci, Nardo, Ragona, Francesca, Arzimanoglou, Alexis, Panagiotakaki, Eleni, Carrilho, Inês, Zucca, Claudio, Novy, Jan, Dzieżyc, Karolina, Parowicz, Marek, Mazurkiewicz-Bełdzińska, Maria, Weckhuysen, Sarah, Pons, Roser, Groppa, Sergiu, Sinden, Daniel S., Pitt, Geoffrey S., Tinker, Andrew, Ashworth, Michael, Michalak, Zuzanna, Thom, Maria, Cross, J. Helen, Vavassori, Rosaria, Kaski, Juan P., Sisodiya, Sanjay M.
Publicado 2020