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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Child-Parent Relationship Therapy for Earthquake-Affected Preschoolers: A 1-Year Controlled Study

针对地震灾区学龄前儿童的亲子关系疗法:一项为期1年的对照研究

Bozkurt Karali, Merve Nur; Özkan, Yasemin; Foto Özdemir, Dilşad

A dataset to support wildland fire and fuel management in Greece created with stochastic wildfire simulations

利用随机野火模拟创建的用于支持希腊野火和燃料管理的数据集

Palaiologou, Palaiologos; Giannakopoulos, Christos; Vasilakos, Christos; Sakellariou, Stavros; Rodrigues, Marcos; Karali, Anna; Katavoutas, George; Varotsos, Konstantinos V; Roussou, Olga; Gelabert, Pere Joan; Jiménez-Ruano, Adrián; Lemesios, Giannis; Trasobares, Antoni; Finney, Mark; Kalabokidis, Kostas

Recurrent severe viral infection in a child with inherited complete TBK1 deficiency.

患有遗传性完全性 TBK1 缺陷的儿童反复发生严重病毒感染。

Kilic Sara Sebnem, Zhao Shuxiang, Liu Zhiyong, Karali Yasin, Yalcin Koray, Bodansky Aaron, Chakravarty Debanjana, Wilson Michael, Casanova Jean-Laurent, Zhang Shen-Ying

Platelets sequester extracellular DNA, capturing tumor-derived and free fetal DNA

血小板能够隔离细胞外DNA,捕获肿瘤来源的DNA和游离的胎儿DNA。

Lauren Murphy ,Jeanne Inchauspé ,Giampiero Valenzano ,Pamela Holland ,Nikolaos Sousos ,Hayley L Belnoue-Davis ,Rong Li ,Natalie J Jooss ,Camelia Benlabiod ,Eleanor Murphy ,Zohar Etzioni ,Emelie Shepherd ,Lucy Denly ,Sujata Biswas ,Lin Chen ,Jennifer O'Sullivan ,Michael P Rimmer ,Abdullah O Khan ,Christina Simoglou Karali ,Nadia Nasreddin ,Ian S Hitchcock ,Milka Koupenova ,Skirmantas Kriaucionis ,Jim R Hughes ,Eric O'Neill ,Manu Vatish ,Paul Rees ,Simon Leedham ,Michael Desborough ,Adam J Mead ,Benjamin Schuster-Böckler ,Christopher D Gregory ,Bethan Psaila

Early Locus Coeruleus noradrenergic axon loss drives olfactory dysfunction in Alzheimer's disease.

蓝斑核早期去甲肾上腺素能轴突丢失是阿尔茨海默病嗅觉功能障碍的驱动因素

Meyer Carolin, Niedermeier Theresa, Feyen Paul L C, Strübing Felix L, Rauchmann Boris-Stephan, Karali Katerina, Gentz Johanna, Tillmann Yannik E, Landgraf Nicolas F, Rumpf Svenja-Lotta, Ochs Katharina, Wind-Mark Karin, Biechele Gloria, Wagner Jessica, Guersel Selim, Kurz Carolin I, Schweiger Meike, Prtvar Danilo, Shi Yuan, Banati Richard B, Liu Guo-Jun, Middleton Ryan J, Mitteregger-Kretzschmar Gerda, Perneczky Robert, Koeglsperger Thomas, Neher Jonas J, Tahirovic Sabina, Brendel Matthias, Herms Jochen, Paeger Lars

Peripheral positioning of lysosomes supports melanoma aggressiveness

溶酶体的外周定位促进黑色素瘤的侵袭性

Katerina Jerabkova-Roda,Marina Peralta,Kuang-Jing Huang,Antoine Mousson,Clara Bourgeat Maudru,Louis Bochler,Ignacio Busnelli,Rabia Karali,Hélène Justiniano,Lucian-Mihai Lisii,Philippe Carl,Vincent Mittelheisser,Nandini Asokan,Annabel Larnicol,Olivier Lefebvre,Hugo Lachuer,Angélique Pichot,Tristan Stemmelen,Anne Molitor,Léa Scheid,Quentin Frenger,Frédéric Gros,Aurélie Hirschler,François Delalande,Emilie Sick,Raphaël Carapito,Christine Carapito,Dan Lipsker,Kristine Schauer #,Philippe Rondé #,Vincent Hyenne #,Jacky G Goetz #

Multimodal beneficial effects of BNN27, a nerve growth factor synthetic mimetic, in the 5xFAD mouse model of Alzheimer's disease

BNN27(一种神经生长因子合成模拟物)在阿尔茨海默病5xFAD小鼠模型中表现出多模式的有益作用

Maria Kokkali #,Kanelina Karali #,Evangelia Thanou,Maria Anna Papadopoulou,Ioanna Zota,Alexandros Tsimpolis,Paschalis Efstathopoulos,Theodora Calogeropoulou,Ka Wan Li,Kyriaki Sidiropoulou,Achille Gravanis,Ioannis Charalampopoulos

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration

CREB3基因纯合无义突变创始人与发病时间不一的视网膜变性

Salameh, Manar; Abu Tair, Ghadeer; Mousa, Samira; Obolensky, Alexey; Swaroop, Anand; Roosing, Susanne; Mezer, Eedy; Soudry, Shiri; Karali, Marianthi; Simonelli, Francesca; Banfi, Sandro; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror; Khateb, Samer

RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene,一个全面的遗传性视网膜疾病基因图谱

Rivolta, Carlo; Celik, Elifnaz; Kamdar, Dhryata; Cancellieri, Francesca; Kaminska, Karolina; Ullah, Mukhtar; Barberán-Martínez, Pilar; Bouckaert, Manon; Cortón, Marta; Delanote, Emma; Fernández-Caballero, Lidia; García García, Gema; Holtes, Lara K; Karali, Marianthi; Lopez, Irma; Peter, Virginie G; Schneider, Nina; Vincke, Lieselot; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Coppieters, Frauke; Cremers, Frans P M; Inglehearn, Chris F; Iwata, Takeshi; Kalatzis, Vasiliki; Koenekoop, Robert K; Millán, José M; Sharon, Dror; Toomes, Carmel; Quinodoz, Mathieu