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

Microstructural analysis does not support altered interhemispheric wiring of the human anterior commissure in corpus callosum dysgenesis

微观结构分析不支持胼胝体发育不全患者前连合的半球间连接发生改变的观点。

Edwards, Timothy J; Dean, Ryan J; Robinson, Gail A; Knight, Jacquelyn; Mandelstam, Simone A; Richards, Linda J

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

WWOX发育性和癫痫性脑病:了解癫痫病学和死亡风险

Oliver, Karen L; Trivisano, Marina; Mandelstam, Simone A; De Dominicis, Angela; Francis, David I; Green, Timothy E; Muir, Alison M; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A; Leventer, Richard J; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S; Mefford, Heather C; Kaindl, Angela M; Specchio, Nicola; Scheffer, Ingrid E

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Aicardi 综合征是一种遗传异质性疾病

Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam, Alison E Gardner, Atma M Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M Ryan, Sophie Calvert, Clare L van Eyk, Michael Lardelli, Samuel F Berkovic, Richard J Leventer, Linda J

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

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

婴儿期起病的肌阵挛性发育和癫痫性脑病:一种新的RARS2表型

de Valles-Ibáñez, Guillem; Hildebrand, Michael S; Bahlo, Melanie; King, Chontelle; Coleman, Matthew; Green, Timothy E; Goldsmith, John; Davis, Suzanne; Gill, Deepak; Mandelstam, Simone; Scheffer, Ingrid E; Sadleir, Lynette G

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

STK结构域中的致病性MAST3变异与癫痫相关

Egidio Spinelli # ,Kyle R Christensen # ,Emily Bryant ,Amy Schneider ,Jennifer Rakotomamonjy ,Alison M Muir ,Jessica Giannelli ,Rebecca O Littlejohn ,Elizabeth R Roeder ,Berkley Schmidt ,William G Wilson ,Elysa J Marco ,Kazuhiro Iwama ,Satoko Kumada ,Tiziana Pisano ,Carmen Barba ,Annalisa Vetro ,Eva H Brilstra ,Richard H van Jaarsveld ,Naomichi Matsumoto ,Hadassa Goldberg-Stern ,Patrick W Carney ,P Ian Andrews ,Christelle M El Achkar ,Sam Berkovic ,Lance H Rodan ,Renzo Guerrini ,Ingrid E Scheffer ,Heather C Mefford ,Simone Mandelstam ,Linda Laux ,John J Millichap ,Alicia Guemez-Gamboa ,Angus C Nairn ,Gemma L Carvill

DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation

DRAXIN 调节大脑半球间裂的重塑,从而影响胼胝体的形成程度。

Laura Morcom #,Timothy J Edwards #,Eric Rider,Dorothy Jones-Davis,Jonathan Wc Lim,Kok-Siong Chen,Ryan J Dean,Jens Bunt,Yunan Ye,Ilan Gobius,Rodrigo Suárez,Simone Mandelstam,Elliott H Sherr,Linda J Richards

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

多小脑回畸形的遗传异质性:一项基于深度测序的123例患者研究

Stutterd, Chloe A; Brock, Stefanie; Stouffs, Katrien; Fanjul-Fernandez, Miriam; Lockhart, Paul J; McGillivray, George; Mandelstam, Simone; Pope, Kate; Delatycki, Martin B; Jansen, Anna; Leventer, Richard J

Early-onset vitamin B(6)-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

早产儿致病性PLPBP变异引起的早期维生素B6依赖性癫痫:病例报告及文献综述

Heath, Oliver; Pitt, James; Mandelstam, Simone; Kuschel, Carl; Vasudevan, Anand; Donoghue, Sarah

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

一名患有马夫奇综合征的成年男性携带体细胞IDH1变异(p.R132C)。

Brown, Natasha J; Ye, Zimeng; Stutterd, Chloe; Jayasinghe, Sureshni I; Schneider, Amy; Mullen, Saul; Mandelstam, Simone A; Hildebrand, Michael S