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

Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency

在携带GRIN功能获得性变异的个体中,美金刚治疗与行为、发育和癫痫发作频率的改善相关。

Karnstedt, Maike; Perszyk, Riley E; Myers, Scott J; McDaniels, Ellington; Somorai, Marta; Borggraefe, Ingo; Veenma, Danielle C M; Schoonjans, An-Sofie; Striano, Pasquale; Fantaneanu, Tadeu A; Syrbe, Steffen; Park, Kristen; Chen, Wenjuan; Yuan, Hongjie; Traynelis, Stephen F; Benke, Timothy A; Lemke, Johannes R; Krey, Ilona

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

GRIA3基因的功能获得性变异和功能丧失性变异会导致不同的神经发育表型。

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; Sully, Krystal; Murali, Chaya N; Burrage, Lindsay C; Plaud Gonzalez, Julie Ana; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jérémie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Mélanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Patron Romero, Leslie; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortüm, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Møller, Rikke S; Tümer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R; Shi, Yun Stone; Kristensen, Anders S

Role of CAMK2D in neurodevelopment and associated conditions

CAMK2D在神经发育及相关疾病中的作用

Rigter, Pomme M F; de Konink, Charlotte; Dunn, Matthew J; Proietti Onori, Martina; Humberson, Jennifer B; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E; Weaver, K Nicole; Ryan, Thomas D; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M; Xia, Fan; Rosenfeld, Jill A; Hsieh, Tzung-Chien; Krawitz, Peter M; Elbracht, Miriam; Veenma, Danielle C M; Schulman, Howard; Stratton, Margaret M; Küry, Sébastien; van Woerden, Geeske M

Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys)

病例报告:CAMK2B基因(c.328G>A p.Glu110Lys)新生突变引起的发育迟缓和急性神经精神发作

Dwyer, Bonnie K; Veenma, Danielle C M; Chang, Kiki; Schulman, Howard; Van Woerden, Geeske M

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

病例报告及文献综述:先天性膈疝与颅缝早闭,是巧合还是共同原因?

Gaillard, Linda; Goverde, Anne; van den Bosch, Quincy C C; Jehee, Fernanda S; Brosens, Erwin; Veenma, Danielle; Magielsen, Frank; de Klein, Annelies; Mathijssen, Irene M J; van Dooren, Marieke F

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

基因组测序作为不明原因复杂疾病儿童的诊断测试

Costain, Gregory; Walker, Susan; Marano, Maria; Veenma, Danielle; Snell, Meaghan; Curtis, Meredith; Luca, Stephanie; Buera, Jason; Arje, Danielle; Reuter, Miriam S; Thiruvahindrapuram, Bhooma; Trost, Brett; Sung, Wilson W L; Yuen, Ryan K C; Chitayat, David; Mendoza-Londono, Roberto; Stavropoulos, D James; Scherer, Stephen W; Marshall, Christian R; Cohn, Ronald D; Cohen, Eyal; Orkin, Julia; Meyn, M Stephen; Hayeems, Robin Z

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

FRAS1相关细胞外基质1 (FREM1) 缺乏会导致人类和小鼠发生先天性膈疝。

Beck, Tyler F; Veenma, Danielle; Shchelochkov, Oleg A; Yu, Zhiyin; Kim, Bum Jun; Zaveri, Hitisha P; van Bever, Yolande; Choi, Sunju; Douben, Hannie; Bertin, Terry K; Patel, Pragna I; Lee, Brendan; Tibboel, Dick; de Klein, Annelies; Stockton, David W; Justice, Monica J; Scott, Daryl A

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis

全外显子组测序重新分析发现DNAJC12相关发育迟缓、运动障碍和轻度高苯丙氨酸血症

Veenma, Danielle; Cordeiro, Dawn; Sondheimer, Neal; Mercimek-Andrews, Saadet

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

FRAS1 相关细胞外基质 1 (FREM1) 缺乏会导致人类和小鼠患上先天性膈疝

Tyler F Beck, Danielle Veenma, Oleg A Shchelochkov, Zhiyin Yu, Bum Jun Kim, Hitisha P Zaveri, Yolande van Bever, Sunju Choi, Hannie Douben, Terry K Bertin, Pragna I Patel, Brendan Lee, Dick Tibboel, Annelies de Klein, David W Stockton, Monica J Justice, Daryl A Scott