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

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

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

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

RFamide-related Peptide-3 and the Trade-off between Reproductive and Ingestive Behavior

RFamide相关肽-3与生殖和摄食行为之间的权衡

Schneider, Jill E; Benton, Noah A; Russo, Kim A; Klingerman, Candice M; Williams, Wilbur P 3rd; Simberlund, Jessica; Abdulhay, Amir; Brozek, Jeremy M; Kriegsfeld, Lance J

Acute Metabolic Effects of Olanzapine Depend on Dose and Injection Site

奥氮平的急性代谢效应取决于剂量和注射部位

Candice M Klingerman, Michelle E Stipanovic, Andras Hajnal, Christopher J Lynch

Second-generation antipsychotics cause a rapid switch to fat oxidation that is required for survival in C57BL/6J mice

第二代抗精神病药物可导致 C57BL/6J 小鼠快速转向脂肪氧化,这是生存所必需的

Candice M Klingerman, Michelle E Stipanovic, Mohammad Bader, Christopher J Lynch

In vivo interactions between cobalt or ferric compounds and the pools of sulphide in the blood during and after H2S poisoning

硫化氢中毒期间及之后,钴或铁化合物与血液中硫化物池的体内相互作用

Haouzi, Philippe; Sonobe, Takashi; Torsell-Tubbs, Nicole; Prokopczyk, Bogdan; Chenuel, Bruno; Klingerman, Candice M

Are H2S-trapping compounds pertinent to the treatment of sulfide poisoning?

捕获 H2S 的化合物与硫化物中毒的治疗相关吗?

Haouzi, Philippe; Chenuel, Bruno; Sonobe, Takashi; Klingerman, Candice M

Fate of intracellular H2S/HS- and metallo-proteins

细胞内H2S/HS和金属蛋白的命运

Haouzi, Philippe; Klingerman, Candice M

Food restriction dissociates sexual motivation, sexual performance, and the rewarding consequences of copulation in female Syrian hamsters

食物限制会使雌性叙利亚仓鼠的性动机、性表现和交配带来的奖励后果脱钩。

Klingerman, Candice M; Patel, Anand; Hedges, Valerie L; Meisel, Robert L; Schneider, Jill E