Brais, Bernard

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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Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

Blumen, S. C., Bouchard, J. P., Brais, B., Carasso, R. L., Paleacu, D., Drory, V. E., Chantal, S., Blumen, N., & Braverman, I. (2009) · Neurology

Genetic Neurodegenerative DiseasesMuscle Physiology and Disorders

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A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

Valdmanis, P. N., Dupré, N., Lachance, M., Stochmanski, S. J., Belzil, V. V., Dion, P. A., Thiffault, I., Brais, B., Weston, L., Saint-Amant, L., et al. (2011) · Brain

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

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