日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

Retraction Note: Burnout components, perceived stress and hair cortisol in healthcare professionals during the second wave of COVID 19 pandemic

撤稿声明:第二波新冠疫情期间医护人员的职业倦怠因素、感知压力和头发皮质醇水平

Fortuna, F; Gonzalez, D; Fritzler, A; Ibar, C; Nenda, G; D'Isa, E; Otero, P; Jamardo, J; Calvo, M; Funez, F; Minotti, F; Filipuzzi, L; Canellas, N; Casciaro, S; Jacobsen, D; Azzara, S; Iglesias, S; Gutierrez, G; Aranda, C; Berg, G; Fabre, B

Human Breast Milk microRNAs, Potential Players in the Regulation of Nervous System

人类母乳中的 microRNA,可能参与神经系统的调节

Luis Freiría-Martínez, Marta Iglesias-Martínez-Almeida, Cynthia Rodríguez-Jamardo, Tania Rivera-Baltanás, María Comís-Tuche, Daniela Rodrígues-Amorím, Patricia Fernández-Palleiro, María Blanco-Formoso, Yolanda Diz-Chaves, Natalia González-Freiria, María Suárez-Albo, Montserrat Martín-Forero-Maestre,

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

扩展TRAPPC11相关肌营养不良症的表型谱:25名携带创始变异的罗姆人

Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Juliá-Palacios, Natalia Alexandra; Ortez, Carlos; Poch, Maria Luisa; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernández-Laín, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; 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

Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

探索与发育性脑病64相关的RHOBTB2变异谱:病例系列及文献综述

de Pedro Baena, Sonia; Sariego Jamardo, Andrea; Castro, Pedro; López González, Francisco Javier; Sánchez Carpintero, Rocío; Cerisola, Alfredo; Troncoso, Mónica; Witting, Scarlet; Barrios, Andrés; Fons, Carmen; López Pisón, Javier; Ortigoza-Escobar, Juan Darío

Effects of Occupational Therapy Program Based on Active Meditation on Hair Cortisol Levels in Undergraduate Healthcare Students

基于主动冥想的职业治疗项目对本科医护学生头发皮质醇水平的影响

Espinosa, Alejandra; Morrison, Rodolfo; Gonzalez, Diego; Jamardo, Juan; Fortuna, Federico; Díaz, Carmen-Paz; Gutiérrez, Pamela; Frías, Carla; Soto, Paula; González, Alejandra; Mella, Sandra; Fabre, Bibiana

Evaluation of stress, burnout and hair cortisol levels in health workers at a University Hospital during COVID-19 pandemic

在新冠疫情期间,对某大学医院医护人员的压力、倦怠和头发皮质醇水平进行评估

Ibar, Carolina; Fortuna, Federico; Gonzalez, Diego; Jamardo, Juan; Jacobsen, Dario; Pugliese, Lucas; Giraudo, Laura; Ceres, Veronica; Mendoza, Cynthia; Repetto, Esteban M; Reboredo, Graciela; Iglesias, Silvia; Azzara, Sergio; Berg, Gabriela; Zopatti, Damian; Fabre, Bibiana

The Role of the Second Extracellular Loop of Norepinephrine Transporter, Neurotrophin-3 and Tropomyosin Receptor Kinase C in T Cells: A Peripheral Biomarker in the Etiology of Schizophrenia

去甲肾上腺素转运蛋白第二胞外环、神经营养因子-3和原肌球蛋白受体激酶C在T细胞中的作用:精神分裂症病因学中的外周生物标志物

Daniela Rodrigues-Amorim ,Marta Iglesias-Martínez-Almeida ,Tania Rivera-Baltanás ,Patricia Fernández-Palleiro ,Luis Freiría-Martínez ,Cynthia Rodríguez-Jamardo ,María Comís-Tuche ,María Del Carmen Vallejo-Curto ,María Álvarez-Ariza ,Marta López-García ,Elena de Las Heras ,Alejandro García-Caballero ,Jose Manuel Olivares ,Carlos Spuch

Plasma β-III tubulin, neurofilament light chain and glial fibrillary acidic protein are associated with neurodegeneration and progression in schizophrenia

血浆β-III微管蛋白、神经丝轻链和胶质纤维酸性蛋白与精神分裂症的神经退行性变和进展相关

Daniela Rodrigues-Amorim # ,Tania Rivera-Baltanás # ,María Del Carmen Vallejo-Curto ,Cynthia Rodriguez-Jamardo ,Elena de Las Heras ,Carolina Barreiro-Villar ,María Blanco-Formoso ,Patricia Fernández-Palleiro ,María Álvarez-Ariza ,Marta López ,Alejandro García-Caballero ,José Manuel Olivares ,Carlos Spuch