Moore SA - Search Results

1

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.

Smith SJ, Fabian L, Sheikh A, Noche R, Cui X, Moore SA, Dowling JJ. Smith SJ, et al. Among authors: moore sa. Hum Mol Genet. 2022 Mar 3;31(5):733-747. doi: 10.1093/hmg/ddab278. Hum Mol Genet. 2022. PMID: 34568901 Free PMC article.

2

Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions.

Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tomé FM, Campbell KP. Crosbie RH, et al. Among authors: moore sa. Hum Mol Genet. 2000 Aug 12;9(13):2019-27. doi: 10.1093/hmg/9.13.2019. Hum Mol Genet. 2000. PMID: 10942431

3

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, Campbell KP. Moore SA, et al. Nature. 2002 Jul 25;418(6896):422-5. doi: 10.1038/nature00838. Nature. 2002. PMID: 12140559

4

Limb-girdle muscular dystrophy in the United States.

Moore SA, Shilling CJ, Westra S, Wall C, Wicklund MP, Stolle C, Brown CA, Michele DE, Piccolo F, Winder TL, Stence A, Barresi R, King N, King W, Florence J, Campbell KP, Fenichel GM, Stedman HH, Kissel JT, Griggs RC, Pandya S, Mathews KD, Pestronk A, Serrano C, Darvish D, Mendell JR. Moore SA, et al. J Neuropathol Exp Neurol. 2006 Oct;65(10):995-1003. doi: 10.1097/01.jnen.0000235854.77716.6c. J Neuropathol Exp Neurol. 2006. PMID: 17021404

5

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.

Kobuke K, Piccolo F, Garringer KW, Moore SA, Sweezer E, Yang B, Campbell KP. Kobuke K, et al. Among authors: moore sa. Hum Mol Genet. 2008 May 1;17(9):1201-13. doi: 10.1093/hmg/ddn009. Epub 2008 Feb 5. Hum Mol Genet. 2008. PMID: 18252746 Free PMC article.

6

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

Dialynas G, Flannery KM, Zirbel LN, Nagy PL, Mathews KD, Moore SA, Wallrath LL. Dialynas G, et al. Among authors: moore sa. Hum Mol Genet. 2012 Apr 1;21(7):1544-56. doi: 10.1093/hmg/ddr592. Epub 2011 Dec 20. Hum Mol Genet. 2012. PMID: 22186027 Free PMC article.

7

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. Davidson AE, et al. Among authors: moore be, moore sa. Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344. Brain. 2013. PMID: 23413262 Free PMC article.

8

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium; Lin YY, Muntoni F. Carss KJ, et al. Among authors: moore sa. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768512 Free PMC article.

9

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. Yang AC, et al. Among authors: moore sa. Mol Genet Metab. 2013 Nov;110(3):345-351. doi: 10.1016/j.ymgme.2013.06.016. Epub 2013 Jun 28. Mol Genet Metab. 2013. PMID: 23856421 Free PMC article.

10

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.

Tsuda T, Fitzgerald K, Scavena M, Gidding S, Cox MO, Marks H, Flanigan KM, Moore SA. Tsuda T, et al. Among authors: moore sa. J Hum Genet. 2015 Mar;60(3):151-5. doi: 10.1038/jhg.2014.112. Epub 2014 Dec 24. J Hum Genet. 2015. PMID: 25537791 Free PMC article.

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