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

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Atacama Large Aperture Submillimeter Telescope (AtLAST) science: Our Galaxy

阿塔卡马大口径亚毫米望远镜(AtLAST)科学:我们的星系

Klaassen, Pamela; Traficante, Alessio; Beltrán, Maria; Pattle, Kate; Booth, Mark; Lovell, Joshua; Marshall, Jonathan; Hacar, Alvaro; Gaches, Brandt; Bot, Caroline; Peretto, Nicolas; Stanke, Thomas; Arzoumanian, Doris; Duarte Cabral, Ana; Duchêne, Gaspard; Eden, David; Hales, Antonio; Kauffmann, Jens; Luppe, Patricia; Marino, Sebastian; Redaelli, Elena; Rigby, Andrew; Sánchez-Monge, Álvaro; Schisano, Eugenio; Semenov, Dmitry; Spezzano, Silvia; Thompson, Mark; Wyrowski, Friedrich; Cicone, Claudia; Mroczkowski, Tony; Cordiner, Martin; Di Mascolo, Luca; Johnstone, Doug; van Kampen, Eelco; Lee, Minju; Liu, Daizhong; Maccarone, Thomas; Saintonge, Amélie; Smith, Matthew; Thelen, Alexander; Wedemeyer, Sven

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

STX1A基因的杂合变异和纯合变异均会导致神经发育障碍,伴或不伴癫痫。

Luppe, Johannes; Sticht, Heinrich; Lecoquierre, François; Goldenberg, Alice; Gorman, Kathleen M; Molloy, Ben; Agolini, Emanuele; Novelli, Antonio; Briuglia, Silvana; Kuismin, Outi; Marcelis, Carlo; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Julia, Sophie; Lemke, Johannes R; Abou Jamra, Rami; Platzer, Konrad

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

WARS1 和 SARS1:两种与常染色体隐性小头畸形有关的 tRNA 合成酶

Nina Bögershausen, Hannah E Krawczyk, Rami A Jamra, Sheng-Jia Lin, Gökhan Yigit, Irina Hüning, Anna M Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I Mendes, Desiree E C Smith, Gajja S Salomon

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

编码内体阴离子/质子交换器的CLCN3基因的独特变异是多种神经发育障碍的根本原因。

Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O'Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Abou Jamra, Rami; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B

Safety profile of an 8F femoral arteriotomy closure using the Angio-Seal device in thrombolysed acute stroke patients undergoing thrombectomy

使用Angio-Seal装置对接受溶栓治疗的急性卒中患者进行8F股动脉切口闭合的安全性分析

Wareham, James; Luppe, Sebastian; Youssef, Adam; Crossley, Robert; Mortimer, Alex

Distinction of seropositive NMO spectrum disorder and MS brain lesion distribution

血清阳性视神经脊髓炎谱系疾病与多发性硬化症脑病变分布的区分

Matthews, Lucy; Marasco, Rita; Jenkinson, Mark; Küker, Wilhelm; Luppe, Sebastian; Leite, Maria Isabel; Giorgio, Antonio; De Stefano, Nicola; Robertson, Neil; Johansen-Berg, Heidi; Evangelou, Nikos; Palace, Jacqueline