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Cells|October 14, 2022
A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani FamilyZeeshan Gauhar, Leon Tejwani, Uzma Abdullah, et al.
Cell|December 28, 2006
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathologyYung C Lam, Aaron B Bowman, Paymaan Jafar-Nejad, et al.
Gene|April 24, 2018
Association of CACNA1C with bipolar disorder among the Pakistani populationMadiha Khalid, Terri M Driessen, Jong Seo Lee, et al.
Advanced Genetics (Hoboken, N.J.)|July 17, 2026
Locus-Specific Genetic Associations at the DAOA Gene in Schizophrenia and Bipolar DisorderMadiha Khalid, Muhammad Mukhtar, Muhammad Saqlain, et al.
Journal of Clinical Medicine|January 23, 2020
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31Jonathan D J Labonne, Terri M Driessen, Marvin E Harris, et al.
Cell|May 23, 2006
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degenerationJanghoo Lim, Tong Hao, Chad Shaw, et al.
European Journal of Medical Genetics|July 9, 2013
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamusYasunari Sakai, Kazuhiro Ohkubo, Yuki Matsushita, et al.
Molecular and Cellular Biology|June 22, 2002
Novel transcription coactivator complex containing activating signal cointegrator 1Dong-Ju Jung, Hee-Sook Sung, Young-Wha Goo, et al.
Human Molecular Genetics|April 4, 2020
Nemo-like kinase reduces mutant huntingtin levels and mitigates Huntington's diseaseMali Jiang, Xiaoyan Zhang, Hongshuai Liu, et al.
The Journal of Clinical Investigation|June 29, 2023
Reduction of nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43-related neurodegenerationLeon Tejwani, Youngseob Jung, Hiroshi Kokubu, et al.
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