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

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

朱-时田-竹之内-金综合征中独特的脑畸形

Halliday, B J; Baynam, G; Ewans, L; Greenhalgh, L; Leventer, R J; Pilz, D T; Sachdev, R; Scheffer, I E; Markie, D M; McGillivray, G; Robertson, S P; Mandelstam, S

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

未分类的白质疾病:诊断过程需要临床和实验室服务部门密切合作。

Stutterd, C A; Vanderver, A; Lockhart, P J; Helman, G; Pope, K; Uebergang, E; Love, C; Delatycki, M B; Thorburn, D; Mackay, M T; Peters, H; Kornberg, A J; Patel, C; Rodriguez-Casero, V; Waak, M; Silberstein, J; Sinclair, A; Nolan, M; Field, M; Davis, M R; Fahey, M; Scheffer, I E; Freeman, J L; Wolf, N I; Taft, R J; van der Knaap, M S; Simons, C; Leventer, R J

MRI and pathology correlations in the medulla in sudden unexpected death in epilepsy (SUDEP): a postmortem study.

癫痫猝死(SUDEP)患者延髓的 MRI 和病理学相关性:一项尸检研究

Patodia S, Tachrount M, Somani A, Scheffer I, Yousry T, Golay X, Sisodiya S M, Thom M

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

DYRK1A基因的破坏性新生突变会导致一种综合征型自闭症和智力障碍。

van Bon, B W M; Coe, B P; Bernier, R; Green, C; Gerdts, J; Witherspoon, K; Kleefstra, T; Willemsen, M H; Kumar, R; Bosco, P; Fichera, M; Li, D; Amaral, D; Cristofoli, F; Peeters, H; Haan, E; Romano, C; Mefford, H C; Scheffer, I; Gecz, J; de Vries, B B A; Eichler, E E

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities

双侧后脑室周围结节状异位症:一种可识别的皮质畸形,伴有一系列相关的脑部异常

Mandelstam, S A; Leventer, R J; Sandow, A; McGillivray, G; van Kogelenberg, M; Guerrini, R; Robertson, S; Berkovic, S F; Jackson, G D; Scheffer, I E

De novo SCN1A mutations in migrating partial seizures of infancy

婴儿游走性部分性癫痫中的新生SCN1A突变

Carranza Rojo, D; Hamiwka, L; McMahon, J M; Dibbens, L M; Arsov, T; Suls, A; Stödberg, T; Kelley, K; Wirrell, E; Appleton, B; Mackay, M; Freeman, J L; Yendle, S C; Berkovic, S F; Bienvenu, T; De Jonghe, P; Thorburn, D R; Mulley, J C; Mefford, H C; Scheffer, I E

Lack of replication of association between scn1a SNP and febrile seizures

scn1a SNP与热性惊厥之间关联的重复性研究不足

Petrovski, S; Scheffer, I E; Sisodiya, S M; O'Brien, T J; Berkovic, S F

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

KCNQ2基因的缺失或重复可导致良性家族性新生儿癫痫。

Heron, S E; Cox, K; Grinton, B E; Zuberi, S M; Kivity, S; Afawi, Z; Straussberg, R; Berkovic, S F; Scheffer, I E; Mulley, J C

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction

KCNQ2基因的新突变将癫痫与KCNQ2-钙调蛋白相互作用功能障碍联系起来。

Richards, M C; Heron, S E; Spendlove, H E; Scheffer, I E; Grinton, B; Berkovic, S F; Mulley, J C; Davy, A

Genetics of temporal lobe epilepsy

颞叶癫痫的遗传学

Vadlamudi, L; Scheffer, I E; Berkovic, S F