Browsing by Author Armstrong i Morón, Judith
Showing results 1 to 14 of 14
| Issue Date | Title | Author(s) |
|---|---|---|
| 3-Oct-2003 | Anàlisi del gen MECP2 a la Síndrome de Rett, correlacions genotip-fenotip | Armstrong i Morón, Judith |
| 22-Jul-2020 | Caracterización clínica y molecular del síndrome de Rett: elucidar los casos no resueltos | Vidal Falcó, Silvia |
| 14-Jun-2011 | Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy | Olivé i Plana, Montserrat; Odgerel, Zagaa; Martínez, Amaia; Poza, Juan José; García Bragado, Federico; Zabalza, Ramón J.; Jericó, Ivonne; González Mera, Laura; Shatunov, Alexey; Lee, Hee Suk; Armstrong i Morón, Judith; Maraví, Elías; Ramos Arroyo, María; Pascual Calvet, Jordi; Navarro, Carmen; Paradas, Carmen; Huerta Villanueva, Mariano; Márquez, Fabian; Gutierrez Rivas, Eduardo; Pou, Adolf; Ferrer, Isidro (Ferrer Abizanda); Goldfarb, Lev G. |
| 22-Dec-2023 | Comprehensive analysis of diagnostic approaches and molecular landscape in Rett syndrome spectrum disorders | Xiol Viñas, Clara |
| 14-Jan-2020 | Comprehensive analysis of GABAA-A1R developmental alterations in Rett Syndrome: setting the focus for therapeutic targets in the time frame of the disease | Oyarzabal, Alfonso; Xiol Viñas, Clara; Castells, Aina-Alba; Grau, Cristina; O'Callaghan, Mar; Fernàndez, Guerau; Alcántara Horrillo, Soledad; Pineda Marfà, Mercè; Armstrong i Morón, Judith; Altafaj, Xavier; Garcia-Cazorla, Àngels |
| 15-Feb-2009 | Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? | Gamez, Josep; Armstrong i Morón, Judith; Shatunov, Alexey; Selva O'Callaghan, Albert; Domínguez Oronoz, Rosa; Ortega, Arantxa; Goldfarb, Lev G.; Ferrer, Isidro (Ferrer Abizanda); Olivé i Plana, Montserrat |
| 11-Jan-2023 | Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects | Petazzi, Paolo; Jorge Torres, Olga Caridad; Gomez, Antonio; Scognamiglio, Iolanda; Serra Musach, Jordi; Merkel, Angelika; Grases, Daniela; Xiol Viñas, Clara; O’Callaghan, Mar; Armstrong i Morón, Judith; Esteller, Manel; Guil, Sonia |
| 23-Mar-2015 | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | Brito, Sara; Thompson, Kyle; Campistol Plana, Jaume; Colomer Oferil, Jaume; Hardy, Steven A.; Langping, He; Fernández Marmiesse, Ana; Palacios, Lourdes; Jou, Cristina; Jiménez Mallebrera, Cecilia; Armstrong i Morón, Judith; Montero Sánchez, Raquel; Artuch Iriberri, Rafael; Tischner, Christin; Wenz, Tina; McFarland, Robert; Taylor, Robert W. |
| Apr-2016 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability | Sáez, Mauricio A.; Fernández Rodríguez, Juana; Moutinho, Cátia; Sanchez-Mut, Jose Vicente; Gómez, Antonio; Vidal, Enrique; Petazzi, Paolo; Szczesna, Karolina; López Serra, Paula; Lucariello, Mario; Lorden, Patricia; Delgado-Morales, Raul; Caridad, Olga J. de la; Huertas, Dori; Gelpí Buchaca, Josep Lluís; Orozco López, Modesto; López Dóriga Guerra, Adriana; Milà i Recasens, Montserrat; Pérez Jurado, Luis; Pineda, Mercedes; Armstrong i Morón, Judith; Lázaro García, Conxi; Esteller, Manel |
| 26-Feb-2013 | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas | Sarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, Pablo; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |
| Jun-2007 | Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene | Olivé i Plana, Montserrat; Armstrong i Morón, Judith; Miralles, Francesc; Pou, Adolf; Fardeau, Michel; González Mera, Laura; Martínez, Francesca; Fisher, Dirk; Martínez Matos, Juan Antonio; Shatunov, Alexey; Goldfarb, Lev G.; Ferrer, Isidro (Ferrer Abizanda) |
| 14-Jul-2023 | Study of expression levels in MECP2 related disorders using transcriptomics and proteomics: characterizing Rett syndrome and MECP2 duplication syndrome | Pascual Alonso, Ainhoa |
| 31-May-2016 | Targeted next generation sequencing in patients with inborn errors of metabolism | Yubero 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 |
| Dec-2016 | Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype | Lucariello, Mario; Vidal, Enrique; Vidal, Silvia; Sáez, Mauricio A.; Roa, Laura; Huertas, Dori; Pineda Marfà, Mercè; Dalfó Capella, Esther; Dopazo, Joaquín; Jurado, Paola; Armstrong i Morón, Judith; Esteller, Manel |