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

Differential contributions of an antimicrobial effector from Verticillium dahliae to virulence and tomato microbiota assembly across natural soils

大丽轮枝菌抗菌效应因子对天然土壤中番茄毒力和微生物群落组成的不同贡献

Punt, Wilko; Kraege, Anton; Metzger, Sabine; Schmitz, Natalie; Zhu, Jinyi; Hacquard, Stéphane; Bonkowski, Michael; Snelders, Nick C; Thomma, Bart P H J

The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort

ESMI队列中3型脊髓小脑性共济失调突变携带者的用药模式

Silva, Patrick; Costa, Marina A; Gaspar, Laetitia; Durães, João; Cunha, Inês; Ribeiro, Joana A; Januário, Cristina; Oliveiros, Bárbara; Hübener-Schmid, Jeannette; Faber, Jennifer; Raposo, Mafalda; Lima, Manuela; Garcia-Moreno, Hector; Giunti, Paola; Beichert, Lukas; Schöls, Ludger; van de Warrenburg, Bart P; de Vries, Jeroen; Thieme, Andreas; Reetz, Kathrin; Jacobi, Heike; Infante, Jon; Klockgether, Thomas; de Almeida, Luís Pereira; Santana, Magda M

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders

利用微电极阵列构建人类神经元网络,作为评估 CACNA1A 相关疾病中基因型-表型相关性的工具

Hommersom, Marina P; Puvogel, Sofía; Scheefhals, Nicky; Carpentiero, Eleonora; Bouma, Marga; van Beusekom, Ellen; Dillen, Lieke; van de Warrenburg, Bart P C; Nadif Kasri, Nael; van Bokhoven, Hans

Experiences of metastatic prostate cancer patients with a mainstream genetic testing pathway

转移性前列腺癌患者采用主流基因检测途径的经验

Vlaming, Michiel; Bleiker, Eveline M A; Schijven, Gina; Kiemeney, Lambertus A L M; van Melick, Harm H E; Hunting, Jarmo C B; Noordzij, M Arjen; Beeker, Aart; Somford, Diederik M; van der Poel, Henk G; Wijburg, Carl J; Wijsman, Bart P; Hoekstra, Robert J; van Moorselaar, R Jeroen A; van Bezooijen, Bart P J; Meijer, Richard P; Busstra, Martijn B; van den Berg, H Pieter; Robbrecht, Debbie G J; Doornweerd, Benjamin H J; van Oort, Inge M; Ausems, Margreet G E M

Peripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden

脊髓小脑性共济失调3型:周围神经系统和自主神经系统受累——揭示隐形负担

Leeuwenberg, Kristofoor E; van Alfen, Nens; van de Warrenburg, Bart P; Maas, Roderick P P W M

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study

比利时遗传性视网膜营养不良症(IRDs)的社会经济影响:一项疾病成本研究

Vandersmissen, Ine; Geers, Janice; Denee, Tom; Oinasmaa, Salla; Hoeben, Dagmar; Zhang, Xinyi; Aydin, Burcak; Cheung, Simone; Billiet, Lorenzo; Joniau, Inge; Daly, Avril; Simoens, Steven; Leroy, Bart P

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS

双等位基因中间型 ATXN2 重复序列扩增与进展缓慢、腿部起病的家族性 ALS 相关。

Demaegd, Koen Cedric; Koole, Wouter; van Vugt, Joke Jfa; Dankbaar, Jan Willem; Hendrikse, Jeroen; Nazlı Başak, A; de Carvalho, Mamede; Corcia, Philippe; Codron, Philippe; Bernard, Emilien; Guissart, Claire; Couratier, Philippe; Povedano Panades, Mónica; van Doorn, Pieter A; Warrenburg, Bart P; Cooper-Knock, Johnathan; Pasterkamp, R Jeroen; van Rheenen, Wouter; van Damme, Philip; van den Berg, Leonard H; Veldink, Jan Herman; van Es, Michael A

Starship giant transposons dominate plastic genomic regions in a fungal plant pathogen and drive virulence evolution

巨型转座子在真菌植物病原体的可塑性基因组区域中占据主导地位,并驱动毒力进化。

Sato, Yukiyo; Bex, Roos; van den Berg, Grardy C M; Santhanam, Parthasarathy; Höfte, Monica; Seidl, Michael F; Thomma, Bart P H J

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

CACNA1A 单倍体不足会导致突触功能降低和内在兴奋性增加

Hommersom Marina P, Doorn Nina, Puvogel Sofía, Lewerissa Elly I, Mordelt Annika, Ciptasari Ummi, Kampshoff Franziska, Dillen Lieke, van Beusekom Ellen, Oudakker Astrid, Kogo Naoki, Dolga Amalia M, Frega Monica, Schubert Dirk, van de Warrenburg Bart P C, Nadif Kasri Nael, van Bokhoven Hans