Shanske S - Search Results

1

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Bornstein B, et al. Among authors: shanske s. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504129 Free PMC article.

2

Mitochondrial myopathy associated with a novel mutation in mtDNA.

Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O, Krishna S, Bonilla E, DiMauro S. Pancrudo J, et al. Among authors: shanske s. Neuromuscul Disord. 2007 Aug;17(8):651-4. doi: 10.1016/j.nmd.2007.04.005. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588757 Free PMC article.

3

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. Tanji K, et al. Among authors: shanske s. J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7. J Neurol Sci. 2008. PMID: 18314141 Free PMC article.

4

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S. Shanske S, et al. Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67. Arch Neurol. 2008. PMID: 18332249

5

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.

Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Moraes CT, et al. Among authors: shanske s. Neuromuscul Disord. 1993 Jan;3(1):43-50. doi: 10.1016/0960-8966(93)90040-q. Neuromuscul Disord. 1993. PMID: 8392410

6

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Shanske S, et al. Am J Hum Genet. 2002 Sep;71(3):679-83. doi: 10.1086/342482. Epub 2002 Jul 31. Am J Hum Genet. 2002. PMID: 12152148 Free PMC article.

7

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S. Karadimas CL, et al. Among authors: shanske s. Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x. Neuromuscul Disord. 2002. PMID: 12398839 Clinical Trial.

8

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S. Mancuso M, et al. Among authors: shanske s. Arch Neurol. 2003 Jul;60(7):1007-9. doi: 10.1001/archneur.60.7.1007. Arch Neurol. 2003. PMID: 12873860

9

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.

Filosto M, Mancuso M, Vives-Bauza C, Vilà MR, Shanske S, Hirano M, Andreu AL, DiMauro S. Filosto M, et al. Among authors: shanske s. Ann Neurol. 2003 Oct;54(4):524-6. doi: 10.1002/ana.10709. Ann Neurol. 2003. PMID: 14520667

10

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Tay SK, et al. Among authors: shanske s. Neuromuscul Disord. 2004 Apr;14(4):253-60. doi: 10.1016/j.nmd.2003.12.006. Neuromuscul Disord. 2004. PMID: 15019703

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