Rupleen Kaur

MD-PhD Student | Case Western Reserve University

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement


Journal article


S. Donkervoort, R. Sabouny, P. Yun, L. Gauquelin, K. Chao, Y. Hu, I. Al Khatib, A. Töpf, P. Mohassel, B. Cummings, R. Kaur, D. Saade, S. Moore, L. Waddell, M. Farrar, J. Goodrich, P. Uapinyoying, S. Chan, A. Javed, M. Leach, P. Karachunski, J. Dalton, L. Medne, A. Harper, C. Thompson, I. Thiffault, S. Specht, R. Lamont, C. Saunders, H. Racher, F. Bernier, D. Mowat, N. Witting, J. Vissing, R. Hanson, K. Coffman, M. Hainlen, J. Parboosingh, A. Carnevale, G. Yoon, R. Schnur, K. Boycott, J. Mah, V. Straub, A. Foley, A. Innes, C. Bönnemann, T. Shutt
Acta Neuropathologica, 2019

Semantic Scholar DOI PubMedCentral PubMed
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APA   Click to copy
Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K., Hu, Y., … Shutt, T. (2019). MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathologica.


Chicago/Turabian   Click to copy
Donkervoort, S., R. Sabouny, P. Yun, L. Gauquelin, K. Chao, Y. Hu, I. Al Khatib, et al. “MSTO1 Mutations Cause MtDNA Depletion, Manifesting as Muscular Dystrophy with Cerebellar Involvement.” Acta Neuropathologica (2019).


MLA   Click to copy
Donkervoort, S., et al. “MSTO1 Mutations Cause MtDNA Depletion, Manifesting as Muscular Dystrophy with Cerebellar Involvement.” Acta Neuropathologica, 2019.


BibTeX   Click to copy

@article{s2019a,
  title = {MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement},
  year = {2019},
  journal = {Acta Neuropathologica},
  author = {Donkervoort, S. and Sabouny, R. and Yun, P. and Gauquelin, L. and Chao, K. and Hu, Y. and Khatib, I. Al and Töpf, A. and Mohassel, P. and Cummings, B. and Kaur, R. and Saade, D. and Moore, S. and Waddell, L. and Farrar, M. and Goodrich, J. and Uapinyoying, P. and Chan, S. and Javed, A. and Leach, M. and Karachunski, P. and Dalton, J. and Medne, L. and Harper, A. and Thompson, C. and Thiffault, I. and Specht, S. and Lamont, R. and Saunders, C. and Racher, H. and Bernier, F. and Mowat, D. and Witting, N. and Vissing, J. and Hanson, R. and Coffman, K. and Hainlen, M. and Parboosingh, J. and Carnevale, A. and Yoon, G. and Schnur, R. and Boycott, K. and Mah, J. and Straub, V. and Foley, A. and Innes, A. and Bönnemann, C. and Shutt, T.}
}


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