Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Itxaso Martí"'
Autor:
Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/
Externí odkaz:
https://doaj.org/article/2dfa1e8234864677aabd2a18c1c7242e
Autor:
Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espinós
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 22, p 16400 (2023)
Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary forms of CA is continuously growing and reveals its genetic complexity. We investi
Externí odkaz:
https://doaj.org/article/c8660caec2e042389e3df754914ed614
Autor:
Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically
Externí odkaz:
https://doaj.org/article/bfe4ecffca224605a27d21dd60389172
Autor:
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 955 (2023)
In this article, we identified a novel epileptogenic variant (G307R) of the gene SLC6A1, which encodes the GABA transporter GAT-1. Our main goal was to investigate the pathogenic mechanisms of this variant, located near the neurotransmitter permeatio
Externí odkaz:
https://doaj.org/article/0fa48065597b4f24a049889d580fd2e3
Autor:
Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11847 (2022)
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated c
Externí odkaz:
https://doaj.org/article/65e1319d27ad461db2e041f1cb14beef
Autor:
Laura María Compañ Gabucio, Manuela García de la Hera, Laura Torres Collado, Ana Fernández-Somoano, Adonina Tardón, Mònica Guxens, Martine Vrijheid, Marisa Rebagliato, Mario Murcia, Jesús Ibarluzea, Itxaso Martí, Jesús Vioque
Publikováno v:
Nutrients, Vol 13, Iss 2, p 327 (2021)
We assessed the association between the use of lower- and higher-than-recommended doses of folic acid supplements (FAs) during pregnancy and attentional function in boys and girls at age of 4–5. We analyzed data from 1329 mother-child pairs from th
Externí odkaz:
https://doaj.org/article/09b5efdc78d54072bbac36fdebf47284
Autor:
Kalliopi Vrotsou, Mikel Subiza, Itziar Vergara, Maider Kortajarena, Itxaso Martí, Irene Duo, Carmen Sanchez, Amaia Valero, Jesus Ibarluzea
Publikováno v:
ISEE Conference Abstracts. 2022
Autor:
Juliana Ribeiro-Constante, Maria Jesús Martínez-González, Albert Saiz, Thaís Armangue, Verónica Cantarín-Extremera, Itxaso Martí, Ramon Cancho-Candela, María Jiménez-Legido, Verónica González-Álvarez, Gemma Olivé-Cirera, María Vázquez-López, Elianet Fonseca, Ana Camacho-Salas
Publikováno v:
Neurology® Neuroimmunology & Neuroinflammation
article-version (Version of Record) 3
article-version (Version of Record) 3
Background and ObjectivesTo investigate whether children receiving immunosuppressive therapies for neuroimmunologic disorders had (1) increased susceptibility to SARS-CoV2 infection or to develop more severe forms of COVID-19; (2) increased relapses
Autor:
Ana Iturzaeta, Eider Oñate, Milagrosa Montes, Gustavo Cilla, Esther Tamayo, Itxaso Martí Carrera, Ainhoa Muguruza
Publikováno v:
Pediatric Infectious Disease Journal. 38:687-691
Background Enterovirus (EV) D68 is mainly associated with acute respiratory infection (ARI). Since 2014, when outbreaks in different countries were observed, this emerging virus was considered a potential threat to public health. Methods During 2015-
Autor:
Ana Fernández-Somoano, Martine Vrijheid, Mario Murcia, Manuela García de la Hera, Laura Torres Collado, Marisa Rebagliato, Jesús Ibarluzea, Mònica Guxens, Laura María Compañ Gabucio, Adonina Tardón, Jesús Vioque, Itxaso Martí
Publikováno v:
Nutrients
Volume 13
Issue 2
Scopus
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Nutrients, 13(2):327, 1-16. Multidisciplinary Digital Publishing Institute (MDPI)
Repositori Universitat Jaume I
Universitat Jaume I
Nutrients, Vol 13, Iss 327, p 327 (2021)
Volume 13
Issue 2
Scopus
RUO. Repositorio Institucional de la Universidad de Oviedo
instname
Nutrients, 13(2):327, 1-16. Multidisciplinary Digital Publishing Institute (MDPI)
Repositori Universitat Jaume I
Universitat Jaume I
Nutrients, Vol 13, Iss 327, p 327 (2021)
We assessed the association between the use of lower- and higher-than-recommended doses of folic acid supplements (FAs) during pregnancy and attentional function in boys and girls at age of 4–5. We analyzed data from 1329 mother-child pairs from th