Leigh Disease

Displaying 1 - 2 of 2CSV
Barca, E., Kroopnick, A., Houck, A., Thakur, K., Dugue, R., Zolkipli-Cunningham, Z., Falk, M., Goldstein, A., Demczko, M., Gavrilova, R., Larson, A., Van Hove, J., Saneto, R., Buchsbaum, R., Thompson, J., & Hirano, M. (2024). Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017). Neurology, 102(7_supplement_1). https://doi.org/10.1212/wnl.0000000000206383
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Ganapathi, M., Friocourt, G., Gueguen, N., Friederich, M. W., Le Gac, G., Okur, V., Loaëc, N., Ludwig, T., Ka, C., Tanji, K., Marcorelles, P., Theodorou, E., Lignelli‐Dipple, A., Voisset, C., Walker, M. A., Briere, L. C., Bourhis, A., Blondel, M., LeDuc, C., … Chung, W. K. (2022). A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Journal of Inherited Metabolic Disease, 45(5), 996–1012. Portico. https://doi.org/10.1002/jimd.12526
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