1. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. Issue 8 (August 2020) Authors: Sandweiss, Alexander J; Brandt, Vicky L; Zoghbi, Huda Y Journal: Lancet neurology Issue: Volume 19:Issue 8(2020) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. (15th January 2020) Authors: Chen, Chun-An; Pal, Rituraj; Yin, Jiani; Tao, Huifang; Amawi, Abdallah; Sabo, Aniko; Bainbridge, Matthew N; Gibbs, Richard A; Zoghbi, Huda Y; Schaaf, Christian P Journal: Human molecular genetics Issue: Volume 29:Number 3(2020) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. (12th February 2019) Authors: Huichalaf, Claudia H; Al-Ramahi, Ismael; Park, Kyung-Won; Grunke, Stacy D; Lu, Nan; de Haro, Maria; El-Zein, Karla; Gallego-Flores, Tatiana; Perez, Alma M; Jung, Sung Yun; Botas, Juan; Zoghbi, Huda Y; Jankowsky, Joanna L Journal: Human molecular genetics Issue: Volume 28:Number 12(2019) Page Start: 2014 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dual targeting of brain region‐specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. (11th March 2021) Authors: Lee, Won‐Seok; Lavery, Laura; Rousseaux, Maxime W C; Rutledge, Eric B; Jang, Youjin; Wan, Ying‐Wooi; Wu, Sih‐Rong; Kim, Wonho; Al‐Ramahi, Ismael; Rath, Smruti; Adamski, Carolyn J; Bondar, Vitaliy V; Tewari, Ambika; Soleimani, Shirin; Mota, Samantha; Yalamanchili, Hari K; Orr, Harry T; Liu, Zhando... Journal: EMBO journal Issue: Volume 40:Number 7(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. (10th October 2019) Authors: Chen, Chun-An; Wang, Wei; Pedersen, Steen E; Raman, Ayush; Seymour, Michelle L; Ruiz, Fernanda R; Xia, Anping; van der Heijden, Meike E; Wang, Li; Yin, Jiani; Lopez, Joanna; Rech, Megan E; Lewis, Richard A; Wu, Samuel M; Liu, Zhandong; Pereira, Fred A; Pautler, Robia G; Zoghbi, Huda Y; Schaaf, Ch... Journal: Human molecular genetics Issue: Volume 29:Number 5(2020) Page Start: 705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Purkinje cells and their trees. Issue 9 (September 2021) Authors: Zoghbi, Huda Y; Mehta, Arpan R Journal: Lancet neurology Issue: Volume 20:Issue 9(2021) Page Start: 706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. (December 2019) Authors: Lavery, Laura A; Zoghbi, Huda Y Journal: Current opinion in neurobiology Issue: Volume 59(2019) Page Start: 180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗