Search Page
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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2010 | 2 |
2011 | 3 |
2012 | 3 |
2013 | 1 |
2014 | 1 |
2015 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.
Hum Mutat. 2015 Sep;36(9):881-93. doi: 10.1002/humu.22823. Epub 2015 Jul 24.
Hum Mutat. 2015.
PMID: 26080897
Free PMC article.
Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes.
Richman DP, Nishi K, Morell SW, Chang JM, Ferns MJ, Wollmann RL, Maselli RA, Schnier J, Agius MA.
Richman DP, et al.
Arch Neurol. 2012 Apr;69(4):453-60. doi: 10.1001/archneurol.2011.2200. Epub 2011 Dec 12.
Arch Neurol. 2012.
PMID: 22158720
Free PMC article.
Item in Clipboard
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.
Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ.
Maselli RA, et al.
Hum Genet. 2012 Jul;131(7):1123-35. doi: 10.1007/s00439-011-1132-4. Epub 2011 Dec 29.
Hum Genet. 2012.
PMID: 22205389
Free PMC article.
Item in Clipboard
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.
Maselli RA, et al.
Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6.
Hum Mol Genet. 2010.
PMID: 20371544
Free PMC article.
Item in Clipboard
COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA.
Arredondo J, et al.
Hum Genet. 2014 May;133(5):599-616. doi: 10.1007/s00439-013-1391-3. Epub 2013 Nov 27.
Hum Genet. 2014.
PMID: 24281389
Free PMC article.
Item in Clipboard
Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL.
Maselli RA, et al.
Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22.
Clin Genet. 2011.
PMID: 21175599
Item in Clipboard
Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
Richman DP, Yu Y, Lee TT, Tseng PY, Yu WP, Maselli RA, Tang CY, Chen TY.
Richman DP, et al.
Neuromolecular Med. 2012 Dec;14(4):328-37. doi: 10.1007/s12017-012-8190-1. Epub 2012 Jul 12.
Neuromolecular Med. 2012.
PMID: 22790975
Free PMC article.
Item in Clipboard
Cite
Cite