Shanske S - Search Results

1

Mitochondrial DNA and RNA processing in MELAS.

Kaufmann P, Koga Y, Shanske S, Hirano M, DiMauro S, King MP, Schon EA. Kaufmann P, et al. Among authors: shanske s. Ann Neurol. 1996 Aug;40(2):172-80. doi: 10.1002/ana.410400208. Ann Neurol. 1996. PMID: 8773598

2

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

Sacconi S, Salviati L, Gooch C, Bonilla E, Shanske S, DiMauro S. Sacconi S, et al. Among authors: shanske s. Arch Neurol. 2002 Jun;59(6):1013-5. doi: 10.1001/archneur.59.6.1013. Arch Neurol. 2002. PMID: 12056939

3

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

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

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.

Moraes CT, Ricci E, Petruzzella V, Shanske S, DiMauro S, Schon EA, Bonilla E. Moraes CT, et al. Among authors: shanske s. Nat Genet. 1992 Aug;1(5):359-67. doi: 10.1038/ng0892-359. Nat Genet. 1992. PMID: 1284549

6

MELAS: clinical features, biochemistry, and molecular genetics.

Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. Ciafaloni E, et al. Among authors: shanske s. Ann Neurol. 1992 Apr;31(4):391-8. doi: 10.1002/ana.410310408. Ann Neurol. 1992. PMID: 1586140

7

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S. Zupanc ML, et al. Among authors: shanske s. Ann Neurol. 1991 Jun;29(6):680-3. doi: 10.1002/ana.410290619. Ann Neurol. 1991. PMID: 1892371

8

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.

Shanske S, Moraes CT, Lombes A, Miranda AF, Bonilla E, Lewis P, Whelan MA, Ellsworth CA, DiMauro S. Shanske S, et al. Neurology. 1990 Jan;40(1):24-8. doi: 10.1212/wnl.40.1.24. Neurology. 1990. PMID: 2296377

9

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S. Thyagarajan D, et al. Among authors: shanske s. Ann Neurol. 1995 Sep;38(3):468-72. doi: 10.1002/ana.410380321. Ann Neurol. 1995. PMID: 7668837

10

Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta).

Tonin P, Shanske S, Miranda AF, Brownell AK, Wyse JP, Tsujino S, DiMauro S. Tonin P, et al. Among authors: shanske s. Neurology. 1993 Feb;43(2):387-91. doi: 10.1212/wnl.43.2.387. Neurology. 1993. PMID: 7679780

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