Moore SA - Search Results

1

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

Chang W, Winder TL, LeDuc CA, Simpson LL, Millar WS, Dungan J, Ginsberg N, Plaga S, Moore SA, Chung WK. Chang W, et al. Among authors: moore sa. Prenat Diagn. 2009 Jun;29(6):560-9. doi: 10.1002/pd.2238. Prenat Diagn. 2009. PMID: 19266496 Free PMC article.

2

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

3

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.

Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE. Puckett RL, et al. Among authors: moore sa. Neuromuscul Disord. 2009 May;19(5):352-6. doi: 10.1016/j.nmd.2009.03.001. Epub 2009 Apr 1. Neuromuscul Disord. 2009. PMID: 19342235 Free PMC article.

4

Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I.

Margeta M, Connolly AM, Winder TL, Pestronk A, Moore SA. Margeta M, et al. Among authors: moore sa. Muscle Nerve. 2009 Nov;40(5):883-9. doi: 10.1002/mus.21432. Muscle Nerve. 2009. PMID: 19705481 Free PMC article.

5

Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I.

Mathews KD, Stephan CM, Laubenthal K, Winder TL, Michele DE, Moore SA, Campbell KP. Mathews KD, et al. Among authors: moore sa. Neurology. 2011 Jan 11;76(2):194-5. doi: 10.1212/WNL.0b013e3182061ad4. Neurology. 2011. PMID: 21220724 Free PMC article. No abstract available.

6

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. Willer T, et al. Among authors: moore sa. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252. Nat Genet. 2012. PMID: 22522420 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

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM Jr. Wallace SE, et al. Among authors: moore sa. Neuromuscul Disord. 2014 Apr;24(4):312-20. doi: 10.1016/j.nmd.2014.01.001. Epub 2014 Jan 11. Neuromuscul Disord. 2014. PMID: 24491487 Free PMC article.

9

Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

Bharucha-Goebel DX, Neil E, Donkervoort S, Dastgir J, Wiggs E, Winder TL, Moore SA, Iannaccone ST, Bönnemann CG. Bharucha-Goebel DX, et al. Among authors: moore sa. Neurology. 2015 Apr 7;84(14):1495-7. doi: 10.1212/WNL.0000000000001440. Epub 2015 Mar 13. Neurology. 2015. PMID: 25770200 Free PMC article. No abstract available.

10

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD. Jensen BS, et al. Among authors: moore sa. Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23. Hum Mutat. 2015. PMID: 26310427 Free PMC article.

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