DiMauro S - Search Results

1

Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.

Venditti CP, Harris MC, Huff D, Peterside I, Munson D, Weber HS, Rome J, Kaye EM, Shanske S, Sacconi S, Tay S, DiMauro S, Berry GT. Venditti CP, et al. Among authors: dimauro s. J Inherit Metab Dis. 2004;27(6):735-9. doi: 10.1023/B:BOLI.0000045711.89888.5e. J Inherit Metab Dis. 2004. PMID: 15505378

2

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S. Sacconi S, et al. Among authors: dimauro s. Pediatr Res. 2003 Feb;53(2):224-30. doi: 10.1203/01.PDR.0000048100.91730.6A. Pediatr Res. 2003. PMID: 12538779

3

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.

Tay SK, Shanske S, Kaplan P, DiMauro S. Tay SK, et al. Among authors: dimauro s. Arch Neurol. 2004 Jun;61(6):950-2. doi: 10.1001/archneur.61.6.950. Arch Neurol. 2004. PMID: 15210538

4

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S. Tay SK, et al. Among authors: dimauro s. Arch Neurol. 2004 Dec;61(12):1935-7. doi: 10.1001/archneur.61.12.1935. Arch Neurol. 2004. PMID: 15596615

5

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

Tay SK, Sacconi S, Akman HO, Morales JF, Morales A, De Vivo DC, Shanske S, Bonilla E, DiMauro S. Tay SK, et al. Among authors: dimauro s. J Child Neurol. 2005 Aug;20(8):670-4. doi: 10.1177/08830738050200080701. J Child Neurol. 2005. PMID: 16225813

6

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.

Vazquez-Memije ME, Shanske S, Santorelli FM, Kranz-Eble P, Davidson E, DeVivo DC, DiMauro S. Vazquez-Memije ME, et al. Among authors: dimauro s. J Inherit Metab Dis. 1996;19(1):43-50. doi: 10.1007/BF01799347. J Inherit Metab Dis. 1996. PMID: 8830176

7

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

White SL, Shanske S, McGill JJ, Mountain H, Geraghty MT, DiMauro S, Dahl HH, Thorburn DR. White SL, et al. Among authors: dimauro s. J Inherit Metab Dis. 1999 Dec;22(8):899-914. doi: 10.1023/a:1005639407166. J Inherit Metab Dis. 1999. PMID: 10604142

8

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.

Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S. Salviati L, et al. Among authors: dimauro s. Arch Neurol. 2002 May;59(5):862-5. doi: 10.1001/archneur.59.5.862. Arch Neurol. 2002. PMID: 12020273

9

A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.

Andreu AL, Checcarelli N, Iwata S, Shanske S, DiMauro S. Andreu AL, et al. Among authors: dimauro s. Pediatr Res. 2000 Sep;48(3):311-4. doi: 10.1203/00006450-200009000-00008. Pediatr Res. 2000. PMID: 10960495

10

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.

Bresolin N, Zeviani M, Bonilla E, Miller RH, Leech RW, Shanske S, Nakagawa M, DiMauro S. Bresolin N, et al. Among authors: dimauro s. Neurology. 1985 Jun;35(6):802-12. doi: 10.1212/wnl.35.6.802. Neurology. 1985. PMID: 2987757

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