Moore SA - Search Results

1

A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy.

Marcelot A, Rodriguez-Tirado F, Cuniasse P, Joiner ML, Miron S, Soshnev AA, Fang M, Pufall MA, Mathews KD, Moore SA, Zinn-Justin S, Geyer PK. Marcelot A, et al. Among authors: moore sa. Cells. 2023 Mar 9;12(6):847. doi: 10.3390/cells12060847. Cells. 2023. PMID: 36980188 Free PMC article.

2

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.

3

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

4

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.

5

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.

6

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.

7

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.

8

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.

Eskuri JM, Stanley CM, Moore SA, Mathews KD. Eskuri JM, et al. Among authors: moore sa. J Peripher Nerv Syst. 2012 Mar;17(1):132-4. doi: 10.1111/j.1529-8027.2012.00370.x. J Peripher Nerv Syst. 2012. PMID: 22462675 Free PMC article.

9

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.

10

Urologic and gastrointestinal symptoms in the dystroglycanopathies.

Crockett CD, Bertrand LA, Cooper CS, Rahhal RM, Liu K, Zimmerman MB, Moore SA, Mathews KD. Crockett CD, et al. Among authors: moore sa. Neurology. 2015 Feb 3;84(5):532-9. doi: 10.1212/WNL.0000000000001213. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568299 Free PMC article. Clinical Trial.

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

603 results

Search Page