Browsing by Author Palau Martínez, Francesc

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
20-Oct-2022Application of Next Generation Sequencing to Study the Genetics of Idiopathic Neonatal Arterial Ischemic StrokeOlival T., Jonathan F.
18-Jan-2023Common pathophysiology for ANXA11 disorders caused by aspartate 40 variantsNatera de Benito, Damiel; Olival T., Jonathan F.; Garcia Cabau, Carla; Jou, Cristina; Roldan, Mònica; Codina, Anna; Expósito Escudero, Jessica; Batlle, Cristina; Carrera García, Laura; Ortez, Carlos Ignacio; Salvatella i Giralt, Xavier; Palau Martínez, Francesc; Nascimento, Andrés; Hoenicka, Janet
27-Jul-2017Distribution and genotype-phenotype correlation of GDAP1 mutations in SpainSivera, Rafael; Frasquet, Marina; Lupo, Vincenzo; García-Sobrino, Tania; Blanco-Arias, Patricia; Pardo, Julio; Fernández-Torrón, Roberto; López de Munain, Adolfo; Márquez Infante, Celedonio; Villarreal, Liliana; Carbonell, Pilar; Rojas-Garcia, Ricard; Segovia, Sonia; Illa Sendra, Isabel; Frongia, Anna Lia; Nascimento, Andrés; Ortez, Carlos Ignacio; García-Romero, Mar; Pascual-Pascua, Samuel Ignacio; Pelayo-Negro, Ana Lara; Berciano, José; Guerrero Sola, Antonio; Casasnovas Pons, Carlos; Camacho, Ana; Esteban, Jesús; Chumillas, María José; Barreiro, Marisa; Díaz, Carmen; Palau Martínez, Francesc; Vílchez, Juan Jesús; Espinós, Carmen; Sevilla, Teresa
1-Jul-2022Fisiopatología de modelos murinos de α-sinucleína y enfermedad de ParkinsonJuárez-Escoto, Elena
2-Jun-2017Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patientsSoldevilla, Beatriz; Cuevas-Martín, Carmen; Ibáñez, Clara; Santacatterina, Fulvio; Albertí, María A.; Simó, Carolina; Casasnovas Pons, Carlos; Márquez Infante, Celedonio; Sevilla, Teresa; Pascual-Pascua, Samuel Ignacio; Sánchez Aragó, María; Espinos, Carmen; Palau Martínez, Francesc; Cuezva, José M.
31-May-2016Targeted next generation sequencing in patients with inborn errors of metabolismYubero Siles, Dèlia; Brandi, Nuria; Ormazabal Herrero, Aida; Garcia-Cazorla, Àngels; Pérez Dueñas, Belén; Campistol Plana, Jaume; Ribes Rubió, Maria Antònia; Palau Martínez, Francesc; Artuch Iriberri, Rafael; Armstrong i Morón, Judith
1-Jun-2016Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxiaMollá, Belén; Riveiro, Fátima; Bolinches-Amorós, Arantxa; Muñoz Lasso, Diana C.; Palau Martínez, Francesc; Gonzalez Cabo, Pilar