De Vivo DC - Search Results

1

Genetic heterogeneity in Leigh syndrome.

DiMauro S, De Vivo DC. DiMauro S, et al. Among authors: de vivo dc. Ann Neurol. 1996 Jul;40(1):5-7. doi: 10.1002/ana.410400104. Ann Neurol. 1996. PMID: 8687192 No abstract available.

2

An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.

Lutz R, Garnica A, Shires A, Freneaux E, De Vivo D, Neuhoff P, Rhead WJ. Lutz R, et al. Neurology. 1991 Dec;41(12):1957-60. doi: 10.1212/wnl.41.12.1957. Neurology. 1991. PMID: 1660571

3

Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease).

DeVivo DC, Haymond MW, Obert KA, Nelson JS, Pagliara AS. DeVivo DC, et al. Ann Neurol. 1979 Dec;6(6):483-94. doi: 10.1002/ana.410060605. Ann Neurol. 1979. PMID: 119480

4

Complexities of the pyruvate dehydrogenase complex.

De Vivo DC. De Vivo DC. Neurology. 1998 Nov;51(5):1247-9. doi: 10.1212/wnl.51.5.1247. Neurology. 1998. PMID: 9818840 No abstract available.

5

Mitochondrial myopathies.

DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. DiMauro S, et al. Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602. Ann Neurol. 1985. PMID: 3927817 Review.

6

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.

Fujii T, Garcia Alvarez MB, Sheu KF, Kranz-Eble PJ, De Vivo DC. Fujii T, et al. Among authors: de vivo dc. Pediatr Neurol. 1996 May;14(4):328-34. doi: 10.1016/0887-8994(96)00058-6. Pediatr Neurol. 1996. PMID: 8962591

7

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC. Kaufmann P, et al. Among authors: de vivo dc. Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212/WNL.0b013e31823a0c7f. Epub 2011 Nov 16. Neurology. 2011. PMID: 22094475 Free PMC article.

8

The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.

Santorelli FM, Tanji K, Shanske S, Krishna S, Schmidt RE, Greenwood RS, DiMauro S, De Vivo DC. Santorelli FM, et al. Among authors: de vivo dc. Ann Neurol. 1998 Dec;44(6):962-4. doi: 10.1002/ana.410440616. Ann Neurol. 1998. PMID: 9851442

9

Deficient transport of dehydroascorbic acid in the glucose transporter protein syndrome.

Klepper J, Vera JC, De Vivo DC. Klepper J, et al. Among authors: de vivo dc. Ann Neurol. 1998 Aug;44(2):286-7. doi: 10.1002/ana.410440225. Ann Neurol. 1998. PMID: 9708557 Clinical Trial.

10

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.

Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. Santorelli FM, et al. Ann Neurol. 1993 Dec;34(6):827-34. doi: 10.1002/ana.410340612. Ann Neurol. 1993. PMID: 8250532

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