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A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.
Robitaille Y, Carpenter S, Karpati G, DiMauro SD. Robitaille Y, et al. Among authors: dimauro sd. Brain. 1980 Jun;103(2):315-36. doi: 10.1093/brain/103.2.315. Brain. 1980. PMID: 6249438
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.
Visual memory failure presages conversion to MELAS phenotype.
Leaffer EB, De Vivo DC, Engelstad K, Fryer RH, Gu Y, Shungu DC, Hirano M, DiMauro S, Hinton VJ. Leaffer EB, et al. Among authors: dimauro s. Ann Clin Transl Neurol. 2022 Jun;9(6):841-852. doi: 10.1002/acn3.51564. Epub 2022 May 6. Ann Clin Transl Neurol. 2022. PMID: 35522125 Free PMC article.
661 results