Shanske S - Search Results

1

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

2

Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.

Tsujino S, Shanske S, Valberg SJ, Cardinet GH 3rd, Smith BP, DiMauro S. Tsujino S, et al. Among authors: shanske s. Neuromuscul Disord. 1996 Jan;6(1):19-26. doi: 10.1016/0960-8966(95)00014-3. Neuromuscul Disord. 1996. PMID: 8845714

3

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: shanske s. Arch Neurol. 2002 May;59(5):862-5. doi: 10.1001/archneur.59.5.862. Arch Neurol. 2002. PMID: 12020273

4

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.

5

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.

6

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.

Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S. Mancuso M, et al. Among authors: shanske s. Arch Neurol. 2003 Oct;60(10):1445-7. doi: 10.1001/archneur.60.10.1445. Arch Neurol. 2003. PMID: 14568816

7

Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.

Akman CI, Sue CM, Shanske S, Tanji K, Bonilla E, Ojaimi J, Krishna S, Schubert R, DiMauro S. Akman CI, et al. Among authors: shanske s. J Child Neurol. 2004 Apr;19(4):258-61. doi: 10.1177/088307380401900403. J Child Neurol. 2004. PMID: 15163090

8

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: shanske s. Arch Neurol. 2004 Jun;61(6):950-2. doi: 10.1001/archneur.61.6.950. Arch Neurol. 2004. PMID: 15210538

9

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: shanske s. J Child Neurol. 2005 Aug;20(8):670-4. doi: 10.1177/08830738050200080701. J Child Neurol. 2005. PMID: 16225813

10

Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?

Slonim AE, Bulone L, Minikes J, Hays AP, Shanske S, Tsujino S, DiMauro S. Slonim AE, et al. Among authors: shanske s. Muscle Nerve. 2006 Apr;33(4):571-4. doi: 10.1002/mus.20473. Muscle Nerve. 2006. PMID: 16320310

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