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

Single-molecule validation and optimised protocols for the use of secondary nanobodies in multiplexed immunoassays.

单分子验证和优化方案,用于多重免疫测定中二级纳米抗体的使用。

Saleeb Rebecca, O'Shaughnessy Judi, Ferguson Ryan, Adams Candace T, Horrocks Mathew H

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)

利用睡眠棘慢波激活(D/EE-SWAS)解决发育性和癫痫性脑病的病因

Viswanathan, Sindhu; Oliver, Karen L; Regan, Brigid M; Schneider, Amy L; Myers, Candace T; Mehaffey, Michele G; LaCroix, Amy J; Antony, Jayne; Webster, Richard; Cardamone, Michael; Subramanian, Gopinath M; Chiu, Annie T G; Roza, Eugenia; Teleanu, Raluca I; Malone, Stephen; Leventer, Richard J; Gill, Deepak; Berkovic, Samuel F; Hildebrand, Michael S; Goad, Beatrice S; Howell, Katherine B; Symonds, Joseph D; Brunklaus, Andreas; Sadleir, Lynette G; Zuberi, Sameer M; Mefford, Heather C; Scheffer, Ingrid E

Sequential replacement of PSD95 subunits in postsynaptic supercomplexes is slowest in the cortex

皮层中突触后超复合物中PSD95亚基的顺序替换速度最慢。

Morris, Katie; Bulovaite, Edita; Kaizuka, Takeshi; Schnorrenberg, Sebastian; Adams, Candace T; Komiyama, Noboru; Mendive-Tapia, Lorena; Grant, Seth G N; Horrocks, Mathew H

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

FZR1基因新发功能缺失变异会导致发育性和癫痫性脑病。

Manivannan, Sathiya N; Roovers, Jolien; Smal, Noor; Myers, Candace T; Turkdogan, Dilsad; Roelens, Filip; Kanca, Oguz; Chung, Hyung-Lok; Scholz, Tasja; Hermann, Katharina; Bierhals, Tatjana; Caglayan, Hande S; Stamberger, Hannah; Mefford, Heather; de Jonghe, Peter; Yamamoto, Shinya; Weckhuysen, Sarah; Bellen, Hugo J

Somatic activating BRAF variants cause isolated lymphatic malformations

体细胞激活的BRAF变异会导致孤立性淋巴管畸形

Zenner, Kaitlyn; Jensen, Dana M; Dmyterko, Victoria; Shivaram, Giridhar M; Myers, Candace T; Paschal, Cate R; Rudzinski, Erin R; Pham, Minh-Hang M; Cheng, V Chi; Manning, Scott C; Bly, Randall A; Ganti, Sheila; Perkins, Jonathan A; Bennett, James T

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

EEF1A2基因中有害的新生错义变异会导致发育性和退行性癫痫-运动障碍性脑病。

Carvill, Gemma L; Helbig, Katherine L; Myers, Candace T; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N; Guida, Brandon S; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G; Caruso, Paul A; Lin, Angela E; Jansen, Floor E; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C; Kruer, Michael C

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

p.P1379S 是一种良性变异,会导致威尔逊病中 ATP7B 蛋白水平降低。

Yi, Fan; Poskanzer, Sheri A; Myers, Candace T; Thies, Jenny; Collins, Christopher J; Dayuha, Remwilyn; Duong, Phi; Houwen, Roderick; Hahn, Si Houn

The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

一个家族中同时出现威尔逊病和X连锁无丙种球蛋白血症,凸显了蛋白水解分析在诊断方面的巨大潜力。

Poskanzer, Sheri A; Thies, Jenny; Collins, Christopher J; Myers, Candace T; Dayuha, Remwilyn; Duong, Phi; Yi, Fan; Chang, Irene J; Ochs, Hans D; Torgerson, Troy R; Hahn, Si Houn

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

SYNGAP1脑病:一种独特的全身性发育性和癫痫性脑病

Vlaskamp, Danique R M; Shaw, Benjamin J; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T; Bennett, Mark F; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M; Brooks, Alice S; Mancini, Grazia M S; van de Laar, Ingrid M B H; van Hagen, Johanna M; Ware, Tyson L; Webster, Richard I; Malone, Stephen; Berkovic, Samuel F; Kalnins, Renate M; Sicca, Federico; Korenke, G Christoph; van Ravenswaaij-Arts, Conny M A; Hildebrand, Michael S; Mefford, Heather C; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

CACNA1E基因的新生致病变异导致发育性和癫痫性脑病,伴有挛缩、巨头畸形和运动障碍

Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C; Nolan, Melinda A; Snell, Russell G; Lehnert, Klaus; Sadleir, Lynette G; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J; Lyons, Michael J; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M; Smith, Lacey A; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J; Rankin, Julia; Zeman, Adam; Raymond, F Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B S; Scheffer, Ingrid E; Helbig, Ingo; Zamponi, Gerald W; Lerche, Holger; Mefford, Heather C