Yoon, Grace

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Care4Rare Canada Consortium, Hoch, N. C., Hanzlikova, H., Rulten, S. L., Tétreault, M., Komulainen, E., Ju, L., Hornyak, P., Zeng, Z., Gittens, W., et al. (2017) · Nature

DNA Repair MechanismsPARP inhibition in cancer therapy

Cited by 269

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Scherer, S. W., Lee, K.-S., Hawkins, C., Cohn, R. D., et al. (2016) · The Journal of Pediatrics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 78

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Nimmo, G. A. M., Venkatesh, S., Pandey, A. K., Marshall, C. R., Hazrati, L.-N., Blaser, S., Ahmed, S., Cameron, J., Singh, K., Ray, P. N., et al. (2019) · Human Molecular Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 40

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

Wilson, M. P., Kentache, T., Althoff, C. R., Schulz, C., de Bettignies, G., Mateu Cabrera, G., Cimbalistiene, L., Burnyte, B., Yoon, G., Costain, G., et al. (2024) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

Cited by 30