Tétreault, Martine

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

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Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., Synofzik, M., Brais, B., Stevens, C. A., Sanchez-Carpintero, R., et al. (2013) · Journal of Medical Genetics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

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