Identifying genes in Parkinson’s disease : state of the art

بواسطة Chew, Elaine Guo Yan, Foo, Jia Nee, Tan, Eng-King
منشور في 2020

Functional characterisation of SV2C and its variants as a Parkinson’s Disease-associated gene

بواسطة Chang, Chu-Hua, Chew, Elaine Guo Yan, Tandiono, Moses, Zhang, Tian, Gong, Ximing, Xia, Yun, Foo, Jia Nee
منشور في 2023

A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

بواسطة Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
منشور في 2019

ITPKB and ZNF184 are associated with Parkinson’s disease risk in East Asians

بواسطة Chew, Elaine Guo Yan, Tan, Louis C. S., Au, Wing-Lok, Prakash, Kumar-M., Liu, Jianjun, Foo, Jia Nee, Tan, Eng-King
منشور في 2020

Case report: expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

بواسطة Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima
منشور في 2023

A 3D fiber-hydrogel based non-viral gene delivery platform reveals that microRNAs promote axon regeneration and enhance functional recovery following spinal cord injury

بواسطة Zhang, Na, Lin, Junquan, Lin, Vincent Po Hen, Milbreta, Ulla, Chin, Jiah Shin, Chew, Elaine Guo Yan, Lian, Michelle Mulan, Foo, Jia Nee, Zhang, Kunyu, Wu, Wutian, Chew, Sing Yian
منشور في 2021

Association analysis of PSAP variants in Parkinson's disease patients

بواسطة Chao, Yin Xia, Lee, Bernett, Ng, Ebonne Yulin, Lian, Michelle Mulan, Chew, Elaine Guo Yan, Tandiono, Moses, Li, Zheng, Khor, Chiea Chuen, Kumar, Prakash, Tan, Louis C. S., Foo, Jia Nee, Tan, Eng-King
منشور في 2021

Evaluation of novel Parkinson's disease candidate genes in the Chinese population

بواسطة Chew, Elaine Guo Yan, Liany, Herty, Tan, Louis C. S., Au, Wing-Lok, Prakash, Kumar-M., Azlina Ahmad Annuar, Chan, Anne Y. Y., Lim, Shen-Yang, Mok, Vincent, Chung, Sun Ju, Song, Kyuyoung, Liu, Jianjun, Foo, Jia Nee, Tan, Eng-King
منشور في 2020

Expanding the DARS phenotype: late-adult onset myelopathy and leukoencephalopathy

بواسطة Tan, Ai Huey, Ng, Adeline Su Lyn, Ramli, Norlisah Mohd, Lim, Weng Khong, Cheah, Peng Loon, Teo, Jing Xian, Kuan, Jyn Ling, Tan, Yi Jayne, Lim, Jia Lun, Chew, Elaine Guo Yan, Foo, Jia Nee, Goh, Khean Jin, Tan, Eng-King, Lim, Shen-Yang
منشور في 2023

Observations that suggest a contribution of altered dermal papilla mitochondrial function to androgenetic alopecia

بواسطة Chew, Elaine Guo Yan, Lim, Tze Chiun, Leong, Meng Fatt, Liu, Xingliang, Sia, Yee Yen, Leong, See Ting, Yan-Jiang, Benjamin C., Stoecklin, Celine, Borhan, Rosa, Heilmann-Heimbach, Stefanie, Nöthen, Markus M., Viasnoff, Virgile, Ng, Shyh-Chang, Wan, Andrew C. A., Philpott, Michael P., Hillmer, Axel M.
منشور في 2022

Identification of a novel homozygous missense (c.443A>T:p.N148I) mutation in BBS2 in a Kashmiri family with Bardet-Biedl syndrome

بواسطة Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-Ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Fazal-Ur-Rehman, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez
منشور في 2021

Destabilization of β cell FIT2 by saturated fatty acids alter lipid droplet numbers and contribute to ER stress and diabetes

بواسطة Zheng, Xiaofeng, Ho, Calvin Qing Wei, Chua, Minni, Stelmashenko, Olga, Yeo, Xin Yi, Muralidharan, Sneha, Torta, Federico, Chew, Elaine Guo Yan, Lian, Michelle Mulan, Foo, Jia Nee, Jung, Sangyong, Wong, Sunny Hei, Tan, Nguan Soon, Tong, Nanwei, Rutter, Guy A., Wenk, Markus R., Silver, David L., Berggren, Per-Olof, Ali, Yusuf
منشور في 2022

Trans-interaction of risk loci 6p24.1 and 10q11.21 is associated with endothelial damage in coronary artery disease

بواسطة Tay, Kai Yi, Wu, Kan Xing, Chioh, Florence Wen Jing, Autio, Matias Ilmari, Pek, Nicole Min Qian, Narmada, Balakrishnan Chakrapani, Tan, Sock-Hwee, Low, Adrian Fatt-Hoe, Lian, Michelle Mulan, Chew, Elaine Guo Yan, Lau, Hwee Hui, Kao, Shih Ling, Teo, Adrian Kee Keong, Foo, Jia Nee, Foo, Roger Sik Yin, Heng, Chew Kiat, Chan, Mark Yan Yee, Cheung, Christine
منشور في 2023