Browsing by Author "Cancho Candela, Ramón"
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
Panagiotakaki, Eleni; De Grandis, Elisa; Stagnaro, Michela; Heinzen, Erin L.; Fons, Carmen; Sisodiya, Sanjay; de Vries, Boukje; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid; Lesca, Gaëtan; Rabilloud, Muriel; Klich, Amna; Ramirez-Camacho, Alia; Ulate-Campos, Adriana; Campistol, Jaume; Giannotta, Melania; Moutard, Marie-Laure; Doummar, Diane; Hubsch-Bonneaud, Cecile; Jaffer, Fatima; Cross, Helen; Gurrieri, Fiorella; Tiziano, Danilo; Nevsimalova, Sona; Nicole, Sophie; Neville, Brian; van den Maagdenberg, Arn M. J. M.; Mikati, Mohamad; Goldstein, David B.; Vavassori, Rosaria; Arzimanoglou, Alexis; Cancho Candela, Ramón
(2015)
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Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Juliá-Palacios, Natalia Alexandra; Ortez, Carlos; Poch, Maria Luisa; Hedrera Fernández, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernández-Laín, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Castro, Margarita del Carmen; de la Osa-Langreo, Alberto; Peña-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Pascual-Pascual, Samuel Ignacio; López de Munain, Adolfo; Camacho, Ana; Estevez-Arias, Berta; Musokhranova, Uliana; Olivella, Mireia; Oyarzábal, Alfonso; Jimenez-Mallebrera, Cecilia; Domínguez-González, Cristina; Nascimento, Andrés; García Cazorla, Àngels; Natera-de Benito, Daniel; Cancho Candela, Ramón (2023)
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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
Santos Gómez, Ana; Míguez Cabello, Federico; Juliá Palacios, Natalia; García Navas, Deyanira; Soto Insuga, Víctor; García Peñas, Juan J.; Fuentes, Patricia; Ibáñez Micó, Salvador; Cuesta, Laura; Cancho Candela, Ramón; Andreo Lillo, Patricia; Gutiérrez Aguilar, Gema; Alonso Luengo, Olga; Málaga, Ignacio; Hedrera Fernández, Antonio; García Cazorla, Àngels; Soto, David; Olivella, Mireia; Altafaj, Xavier (2021)
