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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Parikh S, et al. Among authors: dimauro s. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503498 Free PMC article. Review.
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
Emmanuele V, Ganesh J, Vladutiu G, Haas R, Kerr D, Saneto RP, Cohen BH, Van Hove JLK, Scaglia F, Hoppel C, Rosales XQ, Barca E, Buchsbaum R, Thompson JL, DiMauro S, Hirano M; North American Mitochondrial Disease Consortium (NAMDC). Emmanuele V, et al. Among authors: dimauro s. Mol Genet Metab. 2022 Jun;136(2):125-131. doi: 10.1016/j.ymgme.2022.05.001. Epub 2022 May 13. Mol Genet Metab. 2022. PMID: 35606253 Free PMC article. Review.
Mitochondrial diseases.
Vu TH, Hirano M, DiMauro S. Vu TH, et al. Among authors: dimauro s. Neurol Clin. 2002 Aug;20(3):809-39, vii-viii. doi: 10.1016/s0733-8619(01)00017-2. Neurol Clin. 2002. PMID: 12432831 Review.
Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Barca E, et al. Among authors: dimauro s. Neurol Genet. 2020 Mar 2;6(2):e402. doi: 10.1212/NXG.0000000000000402. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337332 Free PMC article.
The North American mitochondrial disease registry.
Rosales XQ, Thompson JLP, Haas R, Van Hove JLK, Karaa A, Krotoski D, Engelstad K, Buchsbaum R, DiMauro S, Hirano M; North American Mitochondrial Disease Consortium. Rosales XQ, et al. Among authors: dimauro s. J Transl Genet Genom. 2020;4:81-90. doi: 10.20517/jtgg.2020.12. Epub 2020 Apr 28. J Transl Genet Genom. 2020. PMID: 32601614 Free PMC article.
Mitochondrial encephalomyopathies: an update.
DiMauro S, Hirano M. DiMauro S, et al. Neuromuscul Disord. 2005 Apr;15(4):276-86. doi: 10.1016/j.nmd.2004.12.008. Neuromuscul Disord. 2005. PMID: 15792866 Review.
Therapeutic prospects for mitochondrial disease.
Schon EA, DiMauro S, Hirano M, Gilkerson RW. Schon EA, et al. Among authors: dimauro s. Trends Mol Med. 2010 Jun;16(6):268-76. doi: 10.1016/j.molmed.2010.04.007. Trends Mol Med. 2010. PMID: 20556877 Free PMC article. Review.
735 results