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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs

NOP58基因的纯合同义变异会损害前体核糖体RNA的成熟,从而导致神经发育障碍。

Bonde, Loisa D; Holling, Tess; Alawi, Malik; El Beheiry, Ahmed A; Mir Hassani, Zabih; Bachand, François; Abdelrazek, Ibrahim M; Kutsche, Kerstin

Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss.

保守的核糖体蛋白伴侣基因 PDCD2 的双等位基因变异与胎儿水肿和早期妊娠丢失有关

Landry-Voyer Anne-Marie, Holling Tess, Mis Emily K, Mir Hassani Zabih, Alawi Malik, Ji Weizhen, Jeffries Lauren, Kutsche Kerstin, Bachand François, Lakhani Saquib A

Volumetric Assessment of Perimesencephalic Subarachnoid Hemorrhage

脑桥周围蛛网膜下腔出血的体积评估

Hoffmann, Emily; Krähling, Hermann; Kleinevoss, Moritz; Bùi, Công Duy; Maksoud, Ziad; Holling, Markus; Köhler, Michael; Faizy, Tobias D; Stracke, Christian Paul; Akkurt, Burak Han

Perimesencephalic Subarachnoid Hemorrhage Is Not Always a Benign Condition: Hemorrhage Volume as a Predictor for Complications and Clinical Outcome

脑桥周围蛛网膜下腔出血并非总是良性疾病:出血量可预测并发症和临床结局

Hoffmann, Emily; Bùi, Công Duy; Valls Chavarria, Alexandra; Müther, Michael; Holling, Markus; Musigmann, Manfred; Masthoff, Max; Ergawy, Mostafa; Faizy, Tobias D; Stracke, Christian Paul; Krähling, Hermann; Akkurt, Burak Han

Perimesencephalic Subarachnoid Hemorrhage Bleeding Patterns Are Not Always Benign: Prognostic Impact of an Aneurysmal Pathology

脑桥周围蛛网膜下腔出血的出血模式并非总是良性的:动脉瘤病理的预后影响

Hoffmann, Emily; Bui, Công Dùy; Ventura, David; Musigmann, Manfred; Valls Chavarria, Alexandra; Holling, Markus; Yedavalli, Vivek S; Heit, Jeremy J; Stracke, Christian Paul; Faizy, Tobias D; Krähling, Hermann; Akkurt, Burak Han

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation

EIF3K纯合变异与神经发育迟缓、小头畸形和生长迟缓相关

McGivern, Bobbi; Holling, Tess; Guillen Sacoto, Maria J; Gudbjartsson, Hákon; Abdelrazek, Ibrahim M; Alawi, Malik; Bai, Yan; Bodamer, Olaf; Crunk, Amy; Dameron, Amy E; Dyer, Lisa M; Henderson, Lindsay B; Irons, Mira; Kutsche, Kerstin; McGowan, Caroline; Monaghan, Kristin G; O'Connor, Kaitlyn; Rashid, Asma; Redlich, Olivia L; Reich, Adi; Simotas, Christopher; Welner, Sara; Wentzensen, Ingrid M

Assessment and treatment of osteoporosis in a patient with a neurodevelopmental disorder caused by a RNU4-2 pathogenic variant (ReNU syndrome)

对患有由 RNU4-2 致病变异引起的神经发育障碍(ReNU 综合征)患者的骨质疏松症进行评估和治疗

Holling, Tess; von Kroge, Simon; Hecher, Laura; Amling, Michael; Schinke, Thorsten; Kutsche, Kerstin; Oheim, Ralf

PNMA2 forms immunogenic non-enveloped virus-like capsids associated with paraneoplastic neurological syndrome

PNMA2 形成免疫原性无包膜病毒样衣壳,与副肿瘤性神经综合征相关。

Junjie Xu ,Simon Erlendsson ,Manvendra Singh ,G Aaron Holling ,Matthew Regier ,Iosune Ibiricu ,Jenifer Einstein ,Michael P Hantak ,Gregory S Day ,Amanda L Piquet ,Tammy L Smith ,Stacey L Clardy ,Alexandra M Whiteley ,Cédric Feschotte ,John A G Briggs ,Jason D Shepherd

CD8+ T cell metabolic flexibility elicited by CD28-ARS2 axis-driven alternative splicing of PKM supports antitumor immunity

CD28-ARS2 轴驱动的 PKM 可变剪接引起的 CD8+ T 细胞代谢灵活性支持抗肿瘤免疫

G Aaron Holling, Colin A Chavel, Anand P Sharda, Mackenzie M Lieberman, Caitlin M James, Shivana M Lightman, Jason H Tong, Guanxi Qiao, Tiffany R Emmons, Thejaswini Giridharan, Shengqi Hou, Andrew M Intlekofer, Richard M Higashi, Teresa W M Fan, Andrew N Lane, Kevin H Eng, Brahm H Segal, Elizabeth A