Hauser MA - Search Results

1

Myotilin overexpression enhances myopathology in the LGMD1A mouse model.

Garvey SM, Liu Y, Miller SE, Hauser MA. Garvey SM, et al. Among authors: hauser ma. Muscle Nerve. 2008 May;37(5):663-7. doi: 10.1002/mus.20994. Muscle Nerve. 2008. PMID: 18335471

2

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Hauser MA, et al. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653

3

myotilin Mutation found in second pedigree with LGMD1A.

Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. Hauser MA, et al. Am J Hum Genet. 2002 Dec;71(6):1428-32. doi: 10.1086/344532. Epub 2002 Nov 11. Am J Hum Genet. 2002. PMID: 12428213 Free PMC article.

4

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).

Garvey SM, Senderek J, Beckmann JS, Seboun E, Jackson CE, Hauser MA. Garvey SM, et al. Among authors: hauser ma. Ann Hum Genet. 2006 May;70(Pt 3):414-6. doi: 10.1111/j.1529-8817.2005.00252.x. Ann Hum Genet. 2006. PMID: 16674563

5

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.

Garvey SM, Miller SE, Claflin DR, Faulkner JA, Hauser MA. Garvey SM, et al. Among authors: hauser ma. Hum Mol Genet. 2006 Aug 1;15(15):2348-62. doi: 10.1093/hmg/ddl160. Epub 2006 Jun 26. Hum Mol Genet. 2006. PMID: 16801328

6

No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations.

Liu Y, Schmidt S, Qin X, Gibson J, Munro D, Wiggs JL, Hauser MA, Allingham RR. Liu Y, et al. Among authors: hauser ma. Mol Vis. 2007 Nov 26;13:2137-41. Mol Vis. 2007. PMID: 18079692

7

Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.

Challa P, Schmidt S, Liu Y, Qin X, Vann RR, Gonzalez P, Allingham RR, Hauser MA. Challa P, et al. Among authors: hauser ma. Mol Vis. 2008 Jan 29;14:146-9. Mol Vis. 2008. PMID: 18334928 Free PMC article.

8

Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations.

Liu Y, Schmidt S, Qin X, Gibson J, Hutchins K, Santiago-Turla C, Wiggs JL, Budenz DL, Akafo S, Challa P, Herndon LW, Hauser MA, Allingham RR. Liu Y, et al. Among authors: hauser ma. Invest Ophthalmol Vis Sci. 2008 Aug;49(8):3465-8. doi: 10.1167/iovs.08-1850. Epub 2008 Apr 17. Invest Ophthalmol Vis Sci. 2008. PMID: 18421074 Free PMC article.

9

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Liu Y, Akafo S, Santiago-Turla C, Cohen CS, Larocque-Abramson KR, Qin X, Herndon LW, Challa P, Schmidt S, Hauser MA, Allingham RR. Liu Y, et al. Among authors: hauser ma. Mol Vis. 2008;14:2367-72. Epub 2008 Dec 18. Mol Vis. 2008. PMID: 19096531 Free PMC article.

10

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.

Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C, Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS, Hauser MA, Jackson CE. Senderek J, et al. Among authors: hauser ma. Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344878 Free PMC article.

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