Moore SA - Search Results

1

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: moore sa. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.

2

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E.

Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP. Durbeej M, et al. Among authors: moore sa. Mol Cell. 2000 Jan;5(1):141-51. doi: 10.1016/s1097-2765(00)80410-4. Mol Cell. 2000. PMID: 10678176 Free article.

3

Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex.

Cohn RD, Durbeej M, Moore SA, Coral-Vazquez R, Prouty S, Campbell KP. Cohn RD, et al. Among authors: moore sa. J Clin Invest. 2001 Jan;107(2):R1-7. doi: 10.1172/JCI11642. J Clin Invest. 2001. PMID: 11160141 Free PMC article.

4

Limb-girdle muscular dystrophies.

Piccolo F, Moore SA, Mathews KD, Campbell KP. Piccolo F, et al. Among authors: moore sa. Adv Neurol. 2002;88:273-91. Adv Neurol. 2002. PMID: 11908231 Review. No abstract available.

5

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Michele DE, et al. Among authors: moore sa. Nature. 2002 Jul 25;418(6896):417-22. doi: 10.1038/nature00837. Nature. 2002. PMID: 12140558

6

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

7

Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration.

Cohn RD, Henry MD, Michele DE, Barresi R, Saito F, Moore SA, Flanagan JD, Skwarchuk MW, Robbins ME, Mendell JR, Williamson RA, Campbell KP. Cohn RD, et al. Among authors: moore sa. Cell. 2002 Sep 6;110(5):639-48. doi: 10.1016/s0092-8674(02)00907-8. Cell. 2002. PMID: 12230980 Free article.

8

Limb-girdle muscular dystrophy.

Mathews KD, Moore SA. Mathews KD, et al. Among authors: moore sa. Curr Neurol Neurosci Rep. 2003 Jan;3(1):78-85. doi: 10.1007/s11910-003-0042-9. Curr Neurol Neurosci Rep. 2003. PMID: 12507416 Review.

9

Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?

Mathews KD, Moore SA. Mathews KD, et al. Among authors: moore sa. Arch Neurol. 2004 Jan;61(1):27-9. doi: 10.1001/archneur.61.1.27. Arch Neurol. 2004. PMID: 14732615 Review. No abstract available.

10

LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP. Barresi R, et al. Among authors: moore sa. Nat Med. 2004 Jul;10(7):696-703. doi: 10.1038/nm1059. Epub 2004 Jun 6. Nat Med. 2004. PMID: 15184894 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

602 results

Search Page