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

Identification of a novel RSPO1-NUMT insertion in a LUAD patient cohort and the challenges and insights into NUMT detection highlighting the importance of reference genomes and population databases

在肺腺癌患者队列中发现一种新的RSPO1-NUMT插入,以及NUMT检测的挑战和见解,突显了参考基因组和人群数据库的重要性。

Tietzova, Ilona; Sochorova, Dana; Triska, Petr; Rancourt, Rebecca C; Omelka, Marek; Parobkova, Eva; Allgäuer, Michael; Schneider, Marc A; Senghas, Karsten; Klotz, Laura V; Tesarova, Marketa

An unexpected discovery of a novel potentially pathogenic APP gene variant: a case report of slowly progressive Alzheimer's disease with prominent cerebral amyloid angiopathy

意外发现一种新型潜在致病性APP基因变异:一例缓慢进展性阿尔茨海默病伴显著脑淀粉样血管病的病例报告

Sykora, Matyas; Harmackova, Marie; Parobkova, Eva; Rusina, Robert; Matěj, Radoslav

Real-world EGFR testing practices for non-small-cell lung cancer by thoracic pathology laboratories across Europe

欧洲各地胸部病理实验室对非小细胞肺癌进行 EGFR 检测的实际操作

Hofman, P; Calabrese, F; Kern, I; Adam, J; Alarcão, A; Alborelli, I; Anton, N T; Arndt, A; Avdalyan, A; Barberis, M; Bégueret, H; Bisig, B; Blons, H; Boström, P; Brcic, L; Bubanovic, G; Buisson, A; Caliò, A; Cannone, M; Carvalho, L; Caumont, C; Cayre, A; Chalabreysse, L; Chenard, M P; Conde, E; Copin, M C; Côté, J F; D'Haene, N; Dai, H Y; de Leval, L; Delongova, P; Denčić-Fekete, M; Fabre, A; Ferenc, F; Forest, F; de Fraipont, F; Garcia-Martos, M; Gauchotte, G; Geraghty, R; Guerin, E; Guerrero, D; Hernandez, S; Hurník, P; Jean-Jacques, B; Kashofer, K; Kazdal, D; Lantuejoul, S; Leonce, C; Lupo, A; Malapelle, U; Matej, R; Merlin, J L; Mertz, K D; Morel, A; Mutka, A; Normanno, N; Ovidiu, P; Panizo, A; Papotti, M G; Parobkova, E; Pasello, G; Pauwels, P; Pelosi, G; Penault-Llorca, F; Picot, T; Piton, N; Pittaro, A; Planchard, G; Poté, N; Radonic, T; Rapa, I; Rappa, A; Roma, C; Rot, M; Sabourin, J C; Salmon, I; Prince, S Savic; Scarpa, A; Schuuring, E; Serre, I; Siozopoulou, V; Sizaret, D; Smojver-Ježek, S; Solassol, J; Steinestel, K; Stojšić, J; Syrykh, C; Timofeev, S; Troncone, G; Uguen, A; Valmary-Degano, S; Vigier, A; Volante, M; Wahl, S G F; Stenzinger, A; Ilié, M

Biomarkers Analysis and Clinical Manifestations in Comorbid Creutzfeldt-Jakob Disease: A Retrospective Study in 215 Autopsy Cases

共病克雅氏病的生物标志物分析及临床表现:215例尸检病例的回顾性研究

Nikol Jankovska, Robert Rusina, Jiri Keller, Jaromir Kukal, Magdalena Bruzova, Eva Parobkova, Tomas Olejar, Radoslav Matej

Human Prion Disorders: Review of the Current Literature and a Twenty-Year Experience of the National Surveillance Center in the Czech Republic

人类朊病毒疾病:当前文献综述及捷克国家监测中心二十年经验

Jankovska, Nikol; Rusina, Robert; Bruzova, Magdalena; Parobkova, Eva; Olejar, Tomas; Matej, Radoslav

Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

散发性克雅氏病及其他合并症蛋白病

Parobkova, Eva; van der Zee, Julie; Dillen, Lubina; Van Broeckhoven, Christine; Rusina, Robert; Matej, Radoslav

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

SQSTM1基因的罕见突变会影响额颞叶变性的易感性。

van der Zee, Julie; Van Langenhove, Tim; Kovacs, Gabor G; Dillen, Lubina; Deschamps, William; Engelborghs, Sebastiaan; Matěj, Radoslav; Vandenbulcke, Mathieu; Sieben, Anne; Dermaut, Bart; Smets, Katrien; Van Damme, Philip; Merlin, Céline; Laureys, Annelies; Van Den Broeck, Marleen; Mattheijssens, Maria; Peeters, Karin; Benussi, Luisa; Binetti, Giuliano; Ghidoni, Roberta; Borroni, Barbara; Padovani, Alessandro; Archetti, Silvana; Pastor, Pau; Razquin, Cristina; Ortega-Cubero, Sara; Hernández, Isabel; Boada, Mercè; Ruiz, Agustín; de Mendonça, Alexandre; Miltenberger-Miltényi, Gabriel; do Couto, Frederico Simões; Sorbi, Sandro; Nacmias, Benedetta; Bagnoli, Silvia; Graff, Caroline; Chiang, Huei-Hsin; Thonberg, Håkan; Perneczky, Robert; Diehl-Schmid, Janine; Alexopoulos, Panagiotis; Frisoni, Giovanni B; Bonvicini, Christian; Synofzik, Matthis; Maetzler, Walter; vom Hagen, Jennifer Müller; Schöls, Ludger; Haack, Tobias B; Strom, Tim M; Prokisch, Holger; Dols-Icardo, Oriol; Clarimón, Jordi; Lleó, Alberto; Santana, Isabel; Almeida, Maria Rosário; Santiago, Beatriz; Heneka, Michael T; Jessen, Frank; Ramirez, Alfredo; Sanchez-Valle, Raquel; Llado, Albert; Gelpi, Ellen; Sarafov, Stayko; Tournev, Ivailo; Jordanova, Albena; Parobkova, Eva; Fabrizi, Gian Maria; Testi, Silvia; Salmon, Eric; Ströbel, Thomas; Santens, Patrick; Robberecht, Wim; De Jonghe, Peter; Martin, Jean-Jacques; Cras, Patrick; Vandenberghe, Rik; De Deyn, Peter Paul; Cruts, Marc; Sleegers, Kristel; Van Broeckhoven, Christine

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

一项泛欧洲研究探讨了与额颞叶痴呆相关的C9orf72重复序列:地理流行率、基因组不稳定性以及中间重复序列

van der Zee, Julie; Gijselinck, Ilse; Dillen, Lubina; Van Langenhove, Tim; Theuns, Jessie; Engelborghs, Sebastiaan; Philtjens, Stéphanie; Vandenbulcke, Mathieu; Sleegers, Kristel; Sieben, Anne; Bäumer, Veerle; Maes, Githa; Corsmit, Ellen; Borroni, Barbara; Padovani, Alessandro; Archetti, Silvana; Perneczky, Robert; Diehl-Schmid, Janine; de Mendonça, Alexandre; Miltenberger-Miltenyi, Gabriel; Pereira, Sónia; Pimentel, José; Nacmias, Benedetta; Bagnoli, Silvia; Sorbi, Sandro; Graff, Caroline; Chiang, Huei-Hsin; Westerlund, Marie; Sanchez-Valle, Raquel; Llado, Albert; Gelpi, Ellen; Santana, Isabel; Almeida, Maria Rosário; Santiago, Beatriz; Frisoni, Giovanni; Zanetti, Orazio; Bonvicini, Cristian; Synofzik, Matthis; Maetzler, Walter; Vom Hagen, Jennifer Müller; Schöls, Ludger; Heneka, Michael T; Jessen, Frank; Matej, Radoslav; Parobkova, Eva; Kovacs, Gabor G; Ströbel, Thomas; Sarafov, Stayko; Tournev, Ivailo; Jordanova, Albena; Danek, Adrian; Arzberger, Thomas; Fabrizi, Gian Maria; Testi, Silvia; Salmon, Eric; Santens, Patrick; Martin, Jean-Jacques; Cras, Patrick; Vandenberghe, Rik; De Deyn, Peter Paul; Cruts, Marc; Van Broeckhoven, Christine; van der Zee, Julie; Gijselinck, Ilse; Dillen, Lubina; Van Langenhove, Tim; Theuns, Jessie; Philtjens, Stéphanie; Sleegers, Kristel; Bäumer, Veerle; Maes, Githa; Corsmit, Ellen; Cruts, Marc; Van Broeckhoven, Christine; van der Zee, Julie; Gijselinck, Ilse; Dillen, Lubina; Van Langenhove, Tim; Philtjens, Stéphanie; Theuns, Jessie; Sleegers, Kristel; Bäumer, Veerle; Maes, Githa; Cruts, Marc; Van Broeckhoven, Christine; Engelborghs, Sebastiaan; De Deyn, Peter P; Cras, Patrick; Engelborghs, Sebastiaan; De Deyn, Peter P; Vandenbulcke, Mathieu; Vandenbulcke, Mathieu; Borroni, Barbara; Padovani, Alessandro; Archetti, Silvana; Perneczky, Robert; Diehl-Schmid, Janine; Synofzik, Matthis; Maetzler, Walter; Müller Vom Hagen, Jennifer; Schöls, Ludger; Synofzik, Matthis; Maetzler, Walter; Müller Vom Hagen, Jennifer; Schöls, Ludger; Heneka, Michael T; Jessen, Frank; Ramirez, Alfredo; Kurzwelly, Delia; Sachtleben, Carmen; Mairer, Wolfgang; de Mendonça, Alexandre; Miltenberger-Miltenyi, Gabriel; Pereira, Sónia; Firmo, Clara; Pimentel, José; Sanchez-Valle, Raquel; Llado, Albert; Antonell, Anna; Molinuevo, Jose; Gelpi, Ellen; Graff, Caroline; Chiang, Huei-Hsin; Westerlund, Marie; Graff, Caroline; Kinhult Ståhlbom, Anne; Thonberg, Håkan; Nennesmo, Inger; Börjesson-Hanson, Anne; Nacmias, Benedetta; Bagnoli, Silvia; Sorbi, Sandro; Bessi, Valentina; Piaceri, Irene; Santana, Isabel; Santiago, Beatriz; Santana, Isabel; Helena Ribeiro, Maria; Rosário Almeida, Maria; Oliveira, Catarina; Massano, João; Garret, Carolina; Pires, Paula; Frisoni, Giovanni; Zanetti, Orazio; Bonvicini, Cristian; Sarafov, Stayko; Tournev, Ivailo; Jordanova, Albena; Tournev, Ivailo; Kovacs, Gabor G; Ströbel, Thomas; Heneka, Michael T; Jessen, Frank; Ramirez, Alfredo; Kurzwelly, Delia; Sachtleben, Carmen; Mairer, Wolfgang; Jessen, Frank; Matej, Radoslav; Parobkova, Eva; Danel, Adrian; Arzberger, Thomas; Maria Fabrizi, Gian; Testi, Silvia; Ferrari, Sergio; Cavallaro, Tiziana; Salmon, Eric; Santens, Patrick; Cras, Patrick