Akkari PA - Search Results

1

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

Corbett MA, Akkari PA, Domazetovska A, Cooper ST, North KN, Laing NG, Gunning PW, Hardeman EC. Corbett MA, et al. Among authors: akkari pa. Ann Neurol. 2005 Jan;57(1):42-9. doi: 10.1002/ana.20305. Ann Neurol. 2005. PMID: 15562513

2

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al. Laing NG, et al. Among authors: akkari pa. Nat Genet. 1995 Jan;9(1):75-9. doi: 10.1038/ng0195-75. Nat Genet. 1995. PMID: 7704029

3

Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy.

Akkari PA, Song Y, Hitchcock-DeGregori S, Blechynden L, Laing N. Akkari PA, et al. Biochem Biophys Res Commun. 2002 Aug 16;296(2):300-4. doi: 10.1016/s0006-291x(02)00852-5. Biochem Biophys Res Commun. 2002. PMID: 12163017

4

Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization.

Eyre H, Akkari PA, Wilton SD, Callen DC, Baker E, Laing NG. Eyre H, et al. Among authors: akkari pa. Cytogenet Cell Genet. 1995;69(1-2):15-7. doi: 10.1159/000133928. Cytogenet Cell Genet. 1995. PMID: 7835079

5

A splice-site mutation causing ovine McArdle's disease.

Tan P, Allen JG, Wilton SD, Akkari PA, Huxtable CR, Laing NG. Tan P, et al. Among authors: akkari pa. Neuromuscul Disord. 1997 Jul;7(5):336-42. doi: 10.1016/s0960-8966(97)00062-x. Neuromuscul Disord. 1997. PMID: 9267848

6

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Laing NG, et al. Among authors: akkari pa. Am J Hum Genet. 1992 Mar;50(3):576-83. Am J Hum Genet. 1992. PMID: 1347195 Free PMC article.

7

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1.

Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al. Laing NG, et al. Among authors: akkari pa. Nat Genet. 1995 Jun;10(2):249. doi: 10.1038/ng0695-249. Nat Genet. 1995. PMID: 7663526 No abstract available.

8

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Pelin K, et al. Among authors: akkari pa. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. doi: 10.1073/pnas.96.5.2305. Proc Natl Acad Sci U S A. 1999. PMID: 10051637 Free PMC article.

9

Assignment of the human slow skeletal muscle troponin gene (TNNI1) to 1q32 by fluorescence in situ hybridisation.

Eyre HJ, Akkari PA, Meredith C, Wilton SD, Callen DC, Kedes L, Laing NG. Eyre HJ, et al. Among authors: akkari pa. Cytogenet Cell Genet. 1993;62(2-3):181-2. doi: 10.1159/000133467. Cytogenet Cell Genet. 1993. PMID: 8428521

10

Early onset chromosome 14-linked distal myopathy (Laing).

Mastaglia FL, Phillips BA, Cala LA, Meredith C, Egli S, Akkari PA, Laing NG. Mastaglia FL, et al. Among authors: akkari pa. Neuromuscul Disord. 2002 May;12(4):350-7. doi: 10.1016/s0960-8966(01)00287-5. Neuromuscul Disord. 2002. PMID: 12062252

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