Di Mauro S - Search Results

1

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.

White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR, Di Mauro S. White SL, et al. Among authors: di mauro s. Prenat Diagn. 1999 Dec;19(12):1165-8. Prenat Diagn. 1999. PMID: 10590437

2

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

White SL, Collins VR, Wolfe R, Cleary MA, Shanske S, DiMauro S, Dahl HH, Thorburn DR. White SL, et al. Am J Hum Genet. 1999 Aug;65(2):474-82. doi: 10.1086/302488. Am J Hum Genet. 1999. PMID: 10417290 Free PMC article.

3

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. J Inherit Metab Dis. 1999 Dec;22(8):899-914. doi: 10.1023/a:1005639407166. J Inherit Metab Dis. 1999. PMID: 10604142

4

Mitochondrial diseases.

Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Gorman GS, et al. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.

5

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

6

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359

7

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S. Santorelli FM, et al. Neurology. 1994 May;44(5):972-4. doi: 10.1212/wnl.44.5.972. Neurology. 1994. PMID: 8190310

8

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

Mosewich RK, Donat JR, DiMauro S, Ciafaloni E, Shanske S, Erasmus M, George D. Mosewich RK, et al. Arch Neurol. 1993 Mar;50(3):275-8. doi: 10.1001/archneur.1993.00540030041012. Arch Neurol. 1993. PMID: 8442706

9

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.

Santorelli FM, Tanji K, Shanske S, DiMauro S. Santorelli FM, et al. Neurology. 1997 Jul;49(1):270-3. doi: 10.1212/wnl.49.1.270. Neurology. 1997. PMID: 9222207

10

Diagnosis of the mitochondrial encephalomyopathies.

Shanske S, DiMauro S. Shanske S, et al. Curr Opin Rheumatol. 1997 Nov;9(6):496-503. doi: 10.1097/00002281-199711000-00004. Curr Opin Rheumatol. 1997. PMID: 9375278 Review.

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