Lachance, Mathieu

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Guernsey, D. L., Jiang, H., Campagna, D. R., Evans, S. C., Ferguson, M., Kellogg, M. D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., et al. (2009) · Nature Genetics

Iron Metabolism and DisordersHemoglobinopathies and Related Disorders

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Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

Jiang, X., Raju, P. K., D'Avanzo, N., Lachance, M., Pepin, J., Dubeau, F., Mitchell, W. G., Bello‐Espinosa, L. E., Pierson, T. M., Minassian, B. A., et al. (2019) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

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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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