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

Endovascular treatment in patients with renal dysfunction: results of the MR CLEAN Registry

肾功能不全患者的血管内治疗:MR CLEAN 注册研究结果

Vos, Erik M; Peeters-Scholte, Cacha M P C D; den Hartog, Sanne J; Lingsma, Hester F; van Zwam, Wim H; van Oostenbrugge, Robert J; Uyttenboogaart, Maarten; van Es, Adriaan C G M; Majoie, Charles L M; van der Worp, H B Bart; Coutinho, Jonathan M; Nederkoorn, Paul J; Kruyt, Nyika D; Dippel, Diederik W J; Roozenbeek, Bob; van den Wijngaard, Ido R

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

SNAPIN 基因编码逆行动力蛋白衔接蛋白,其双等位基因有害变异会导致产前发病的神经发育障碍。

Yousaf Hammad, de Koning Maayke A, Khan Kamal, Gilmore Kelly L, Hoffer Mariëtte J V, Kellaris Georgios, Lanone Sophie, Dagouassat Maylis, Ullah Farid, Adama van Scheltema Phebe N, Heron Delphine, Capri Yline, Kuechler Alma, Schweiger Bernd, Haak Monique C, Keren Boris, Tran Mau Them Frederic, Peeters-Scholte Cacha M P C D, Kaiser Frank J, Koopmann Tamara T, Mei Hailiang, Yalcin Binnaz, Depienne Christel, Vora Neeta L, Santen Gijs W E, Davis Erica E

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study

产前诊断胎儿脑室扩大的临床结局及进展风险因素:一项回顾性多中心研究

Moens, Anouk; Albersnagel, Zoe; Veenhof, Marieke B; Adama van Scheltema, Phebe N; Sikkel, Esther; Hoffer, Mariëtte J V; Faas, Brigitte H W; Westra, Dineke; Feenstra, Ilse; Bijlsma, Emilia K; Santen, Gijs W E; Erasmus, Corrie E; Peeters-Scholte, Cacha M P C D

Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review

新生儿半侧巨脑畸形合并结节性硬化症引起的难治性癫痫:病例报告及文献综述

Rondagh, Mathies; de Vries, Linda S; Meeren, Lotte E van der; Tromp, Selma C; Peeters-Scholte, Cacha M P C D; Toirkens, Menno J P; Steggerda, Sylke J

Endovascular treatment of patients with stroke caused by anterior cerebral artery occlusions

前交通动脉闭塞引起的中风患者的血管内治疗

Vos, Erik M; Kappelhof, Manon; den Hartog, Sanne J; Coutinho, Jonathan M; Emmer, Bart J; Roozenbeek, Bob; van Zwam, Wim H; van Oostenbrugge, Robert J; van der Worp, H Bart; Uyttenboogaart, Maarten; van Es, Adriaan C G M; Majoie, Charles B L M; Dippel, Diederik W J; Peeters-Scholte, Cacha M P C D; van den Wijngaard, Ido R

Efficacy of Levetiracetam as Add-On Therapy in the Treatment of Seizures in Neonates

左乙拉西坦作为辅助疗法治疗新生儿癫痫的疗效

Rondagh, Mathies; De Vries, Linda S; Peeters-Scholte, Cacha M P C D; Tromp, Selma C; Steggerda, Sylke J

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

ADAM22双等位基因致病变异会导致进行性脑病和婴儿期发病的难治性癫痫。

van der Knoop, Marieke M; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de França, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A L; Eaton, Alison J; Morneau-Jacob, Francois D; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J; Peeters-Scholte, Cacha M P C D; Kurul, Semra Hiz; Horvath, Rita; Lochmüller, Hanns; Murphy, David; Waldmüller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S; Voinova, Victoria Y; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Alkuraya, Fowzan S; Mefford, Heather C; Alfadhel, Majid; Haack, Tobias B; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry

Prenatal exome sequencing: A useful tool for the fetal neurologist

产前外显子组测序:胎儿神经科医生的有用工具

de Koning, Maayke A; Hoffer, Mariëtte J V; Nibbeling, Esther A R; Bijlsma, Emilia K; Toirkens, Menno J P; Adama-Scheltema, Phebe N; Verweij, E Joanne; Veenhof, Marieke B; Santen, Gijs W E; Peeters-Scholte, Cacha M P C D

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

GRIK2红藻氨酸受体亚基基因的聚集性突变是多种神经发育障碍的病因。

Jacob R Stolz ,Kendall M Foote ,Hermine E Veenstra-Knol ,Rolph Pfundt ,Sanne W Ten Broeke ,Nicole de Leeuw ,Laura Roht ,Sander Pajusalu ,Reelika Part ,Ionella Rebane ,Katrin Õunap ,Zornitza Stark ,Edwin P Kirk ,John A Lawson ,Sebastian Lunke ,John Christodoulou ,Raymond J Louie ,R Curtis Rogers ,Jessica M Davis ,A Micheil Innes ,Xing-Chang Wei ,Boris Keren ,Cyril Mignot ,Robert Roger Lebel ,Steven M Sperber ,Ai Sakonju ,Nienke Dosa ,Daniela Q C M Barge-Schaapveld ,Cacha M P C D Peeters-Scholte ,Claudia A L Ruivenkamp ,Bregje W van Bon ,Joanna Kennedy ,Karen J Low ,Sian Ellard ,Lewis Pang ,Joseph J Junewick ,Paul R Mark ,Gemma L Carvill ,Geoffrey T Swanson

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

GRIK2红藻氨酸受体亚基基因的聚集性突变是多种神经发育障碍的病因。

Stolz, Jacob R; Foote, Kendall M; Veenstra-Knol, Hermine E; Pfundt, Rolph; Ten Broeke, Sanne W; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin P; Lawson, John A; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J; Rogers, R Curtis; Davis, Jessica M; Innes, A Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Ruivenkamp, Claudia A L; van Bon, Bregje W; Kennedy, Joanna; Low, Karen J; Ellard, Sian; Pang, Lewis; Junewick, Joseph J; Mark, Paul R; Carvill, Gemma L; Swanson, Geoffrey T