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

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain

一种新型PTEN变异体可导致发育中人类大脑出现半侧巨脑畸形和局灶性结节状异位症

Fazekas, Franziska; Haboosheh, Amit; Hennebichler, Bernhard; Roetzer-Pejrimovsky, Thomas; Binder, Julia; Reischer, Theresa; Pfeifer, Mateja; Scharrer, Anke; Worda, Christof; Linder, Tina; Farr, Alex; Höftberger, Romana; Gelpi, Ellen; Mitter, Christian; Kasprian, Gregor; Haberler, Christine; Amberg, Nicole

Variably Protease-Sensitive Prionopathy: Two New Cases With Motor Neuron-Dementia Syndrome

变异型蛋白酶敏感性朊病毒病:两例伴有运动神经元痴呆综合征的新病例

Erro, María Elena; Zelaya, María Victoria; Eraña, Hasier; de Gordoa, Javier Sánchez Ruiz; García-Amigot, Fermín; Simonovska-Serra, Anika; Caballero, María Cristina; Ferrer, Isidre; Gelpi, Ellen; Jericó, Ivonne; Castilla, Joaquín

Assessment of cerebrovascular interactions and control in coronary artery disease patients undergoing anaesthesia through bivariate predictability measures

通过双变量预测指标评估接受麻醉的冠状动脉疾病患者的脑血管相互作用和控制情况

Saputo, Roberta; Pernice, Riccardo; Sparacino, Laura; Bari, Vlasta; Gelpi, Francesca; Porta, Alberto; Faes, Luca

Mood Alterations in the Prodromal Phase of Sporadic Creutzfeldt-Jakob Disease

散发型克雅氏病前驱期的情绪改变

Wurm, Raphael; Klotz, Sigrid; Erber, Astrid; Gruber, Felix; Leitner, Stefan; Reichardt, Berthold; Stögmann, Elisabeth; Schernhammer, Eva; Gelpi, Ellen; Cetin, Hakan

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features

一种新型α-突触核蛋白G14R错义变异与非典型神经病理特征相关。

Brücke, Christof; Al-Azzani, Mohammed; Ramalingam, Nagendran; Ramón, Maria; Sousa, Rita L; Buratti, Fiamma; Zech, Michael; Sicking, Kevin; Amaral, Leslie; Gelpi, Ellen; Chandran, Aswathy; Agarwal, Aishwarya; Chaves, Susana R; Fernández, Claudio O; Dettmer, Ulf; Lautenschläger, Janin; Zweckstetter, Markus; Fernández-Busnadiego, Rubén; Zimprich, Alexander; Outeiro, Tiago Fleming

Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes

多组学分析为克雅氏病风险基因的假设提供直接依据

Küçükali, Fahri; Hill, Elizabeth; Watzeels, Tijs; Hummerich, Holger; Campbell, Tracy; Darwent, Lee; Collins, Steven; Stehmann, Christiane; Kovacs, Gabor G; Geschwind, Michael D; Frontzek, Karl; Budka, Herbert; Gelpi, Ellen; Aguzzi, Adriano; van der Lee, Sven J; van Duijn, Cornelia M; Liberski, Pawel P; Calero, Miguel; Sanchez-Juan, Pascual; Bouaziz-Amar, Elodie; Laplanche, Jean-Louis; Haïk, Stéphane; Brandel, Jean-Phillipe; Mammana, Angela; Capellari, Sabina; Poleggi, Anna; Ladogana, Anna; Tiple, Dorina; Zafar, Saima; Booth, Stephanie; Jansen, Gerard H; Areškevičiūtė, Aušrinė; Lund, Eva Løbner; Glisic, Katie; Parchi, Piero; Hermann, Peter; Zerr, Inga; Safar, Jiri; Gambetti, Pierluigi; Appleby, Brian S; Collinge, John; Sleegers, Kristel; Mead, Simon

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis

在肌萎缩侧索硬化症患者中鉴定出ARPP21致病突变

Dols-Icardo, Oriol; Carbayo, Álvaro; Jericó, Ivonne; Blasco-Martínez, Olga; Álvarez-Sánchez, Esther; López Pérez, Maria Angeles; Bernal, Sara; Rodríguez-Santiago, Benjamín; Cusco, Ivon; Turon-Sans, Janina; Cabezas-Torres, Manuel; Caballero-Ávila, Marta; Vesperinas, Ana; Llansó, Laura; Pagola-Lorz, Inmaculada; Torné, Laura; Valle-Tamayo, Natalia; Muñoz, Laia; Rubio-Guerra, Sara; Illán-Gala, Ignacio; Cortés-Vicente, Elena; Gelpi, Ellen; Rojas-García, Ricard

Anti-IgLON5 Disease 10 Years Later: What We Know and What We Do Not Know

抗IgLON5疾病十年后:我们已知和未知的内容

Graus, Francesc; Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Iranzo, Alex; Dalmau, Josep O; Santamaria, Joan

Microbiome profiling reveals gut bacterial species associated with rapid lung function decline in people with HIV.

微生物组分析揭示了与 HIV 感染者肺功能快速下降相关的肠道细菌种类

Bai Xiangning, Raju Sajan C, Knudsen Andreas Dehlbæk, Thudium Rebekka Faber, Arentoft Nicoline Stender, Gelpi Marco, Heidari Safura-Luise, Kunisaki Ken M, Kristiansen Karsten, Hov Johannes Roksund, Nielsen Susanne Dam, Trøseid Marius

Comparison of four different assays to evaluate cellular-mediated immunity against cytomegalovirus in solid organ transplantation

比较四种不同检测方法在评估实体器官移植中针对巨细胞病毒的细胞介导免疫中的应用

Angela Casas-Parra # ,Hendrik Veltman # ,Alba Romero-Caballero ,Rosana Gelpi-Remiro ,Marc Boigues-Pons ,Imán Allalou ,Ian Linares-Pardo ,Anna Vila-Santandreu ,Eva Martínez-Cáceres ,María Iglesias-Escudero