Novel heterozygous mutations in the PGAM2 gene with negative exercise testing

por Sidhu, M., Brady, L., Vladutiu, G.D., Tarnopolsky, M.A.
Publicado 2018

The effect of endurance exercise on both skeletal muscle and systemic oxidative stress in previously sedentary obese men

por Samjoo, I A, Safdar, A, Hamadeh, M J, Raha, S, Tarnopolsky, M A
Publicado 2013

Psychiatric symptoms correlate with metabolic indices in the hippocampus and cingulate in patients with mitochondrial disorders

por Anglin, R E, Rosebush, P I, Noseworthy, M D, Tarnopolsky, M, Mazurek, M F
Publicado 2012

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

por Koene, S., Rodenburg, R. J., van der Knaap, M. S., Willemsen, M. A. A. P., Sperl, W., Laugel, V., Ostergaard, E., Tarnopolsky, M., Martin, M. A., Nesbitt, V., Fletcher, J., Edvardson, S., Procaccio, V., Slama, A., van den Heuvel, L. P. W. J., Smeitink, J. A. M.
Publicado 2012

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

por Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza‐Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.
Publicado 2015