Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Montserrat Milá"'
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57
Autor:
Rafael de la Torre, Susana de Sola, Magí Farré, Laura Xicota, Aida Cuenca-Royo, Joan Rodriguez, Alba León, Klaus Langohr, María Gomis-González, Gimena Hernandez, Susanna Esteba, Laura del Hoyo, Júdit Sánchez-Gutiérrez, Maria José Cortés, Andrés Ozaita, Josep María Espadaler, Ramón Novell, Rafael Martínez-Leal, Montserrat Milá, Mara Dierssen, Alessandro Principe, Gonzalo Sánchez, Judit Sánchez-Gutiérrez, Laia Roca, Rafasel de la Torre, Montserrat Fitó, Ovideo Banea, María José Cortés, Montserrat Milà, Rafael Maldonado, Arnau Busquets-Garcia, Andres Ozaita, Maria Gomis-González
Publikováno v:
Recercat. Dipósit de la Recerca de Catalunya
instname
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
instname
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Data de publicació electrònica: 25-03-2019 Background & aims: Despite the wide spectrum of experimental compounds tested in clinical trials, there is still no proven pharmacological treatment available for Fragile-X syndrome (FXS), since several ta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48c7ae1e843da1417effc9ab09940c3a
https://hdl.handle.net/2117/183508
https://hdl.handle.net/2117/183508
Autor:
L. Rodriguez-Revenga, María-Socorro Pérez-Poyato, M. Mar García González, Mercé Pineda Marfa, Montserrat Milá Recansens, Ramón Velázquez Fragua, Antonio Martínez-Bermejo, Rafael Camino León, Rosario Domingo Jiménez, Victoria Cusí Sánchez, Raquel Montero Sánchez, Isidre Ferrer Abizanda
Publikováno v:
Journal of Inherited Metabolic Disease. 34:1083-1093
Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecul
Publikováno v:
Medicina clinica. 142(5)
Publikováno v:
Medicina clinica. 138(13)
Autor:
Sabiha Abekhoukh, H. Bahar Sahin, Mauro Grossi, Samantha Zongaro, Thomas Maurin, Irene Madrigal, Daniele Kazue-Sugioka, Annick Raas-Rothschild, Mohamed Doulazmi, Pilar Carrera, Andrea Stachon, Steven Scherer, Maria Rita Drula Do Nascimento, Alain Trembleau, Ignacio Arroyo, Peter Szatmari, Isabel M. Smith, Montserrat Milà, Adam C. Smith, Angela Giangrande, Isabelle Caillé, Barbara Bardoni
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 4, Pp 463-474 (2017)
Cytoplasmic FMRP interacting protein 1 (CYFIP1) is a candidate gene for intellectual disability (ID), autism, schizophrenia and epilepsy. It is a member of a family of proteins that is highly conserved during evolution, sharing high homology with its
Externí odkaz:
https://doaj.org/article/b879a391863543d5b04344b33425077a
Autor:
Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill
Publikováno v:
Neurobiology of Disease, Vol 65, Iss , Pp 43-54 (2014)
Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1). Here, we have evalua
Externí odkaz:
https://doaj.org/article/58035fb7d2a3436ba5c52018693fd325