DiMauro S - Search Results

1

Mitochondrial involvement in Parkinson's disease: the controversy continues.

DiMauro S. DiMauro S. Neurology. 1993 Nov;43(11):2170-2. doi: 10.1212/wnl.43.11.2170. Neurology. 1993. PMID: 8232923 No abstract available.

2

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

3

Diagnosis of McArdle's disease by molecular genetic analysis of blood.

el-Schahawi M, Tsujino S, Shanske S, DiMauro S. el-Schahawi M, et al. Among authors: dimauro s. Neurology. 1996 Aug;47(2):579-80. doi: 10.1212/wnl.47.2.579. Neurology. 1996. PMID: 8757044

4

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G. Salviati L, et al. Among authors: dimauro s. Neurology. 2005 Aug 23;65(4):606-8. doi: 10.1212/01.wnl.0000172859.55579.a7. Neurology. 2005. PMID: 16116126

5

Clinicopathological features of genetically confirmed Danon disease.

Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Sugie K, et al. Among authors: dimauro s. Neurology. 2002 Jun 25;58(12):1773-8. doi: 10.1212/wnl.58.12.1773. Neurology. 2002. PMID: 12084876 Review.

6

Myopathy with tubulin-reactive crystalline inclusions.

Vu TH, Hays AP, Tanji K, Younger D, Gundersen GG, Eastwood A, Braun CW, DiMauro S, Bonilla E. Vu TH, et al. Among authors: dimauro s. Neurology. 2001 Jul 10;57(1):149-52. doi: 10.1212/wnl.57.1.149. Neurology. 2001. PMID: 11445649

7

Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia.

Hedera P, DiMauro S, Bonilla E, Wald JJ, Fink JK. Hedera P, et al. Among authors: dimauro s. Neurology. 2000 Nov 28;55(10):1591-2. doi: 10.1212/wnl.55.10.1591. Neurology. 2000. PMID: 11094129 No abstract available.

8

G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.

Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, Lava NS, Waheed N, DiMauro S. Shtilbans A, et al. Among authors: dimauro s. J Child Neurol. 2000 Nov;15(11):759-61. doi: 10.1177/088307380001501109. J Child Neurol. 2000. PMID: 11108511

9

Cerebellar ataxia and coenzyme Q10 deficiency.

Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Lamperti C, et al. Among authors: dimauro s. Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339

10

Reversion of mtDNA depletion in a patient with TK2 deficiency.

Vilà MR, Segovia-Silvestre T, Gámez J, Marina A, Naini AB, Meseguer A, Lombès A, Bonilla E, DiMauro S, Hirano M, Andreu AL. Vilà MR, et al. Among authors: dimauro s. Neurology. 2003 Apr 8;60(7):1203-5. doi: 10.1212/01.wnl.0000055928.58122.47. Neurology. 2003. PMID: 12682338

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