Maxwell S - Search Results

1

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Zoltowska K, Webster R, Finlayson S, Maxwell S, Cossins J, Müller J, Lochmüller H, Beeson D. Zoltowska K, et al. Among authors: maxwell s. Hum Mol Genet. 2013 Jul 15;22(14):2905-13. doi: 10.1093/hmg/ddt145. Epub 2013 Apr 8. Hum Mol Genet. 2013. PMID: 23569079

2

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D. Burke G, et al. Among authors: maxwell s. Neurology. 2003 Sep 23;61(6):826-8. doi: 10.1212/01.wnl.0000085865.55513.ae. Neurology. 2003. PMID: 14504330

3

Distinct phenotypes of congenital acetylcholine receptor deficiency.

Burke G, Cossins J, Maxwell S, Robb S, Nicolle M, Vincent A, Newsom-Davis J, Palace J, Beeson D. Burke G, et al. Among authors: maxwell s. Neuromuscul Disord. 2004 Jun;14(6):356-64. doi: 10.1016/j.nmd.2004.03.005. Neuromuscul Disord. 2004. PMID: 15145336 Clinical Trial.

4

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.

Cossins J, Webster R, Maxwell S, Burke G, Vincent A, Beeson D. Cossins J, et al. Among authors: maxwell s. Hum Mol Genet. 2004 Dec 1;13(23):2947-57. doi: 10.1093/hmg/ddh320. Epub 2004 Oct 7. Hum Mol Genet. 2004. PMID: 15471888

5

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y. Beeson D, et al. Among authors: maxwell s. Science. 2006 Sep 29;313(5795):1975-8. doi: 10.1126/science.1130837. Epub 2006 Aug 17. Science. 2006. PMID: 16917026

6

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Cossins J, Burke G, Maxwell S, Spearman H, Man S, Kuks J, Vincent A, Palace J, Fuhrer C, Beeson D. Cossins J, et al. Among authors: maxwell s. Brain. 2006 Oct;129(Pt 10):2773-83. doi: 10.1093/brain/awl219. Epub 2006 Aug 31. Brain. 2006. PMID: 16945936 Free article.

7

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y, Beeson D. Palace J, et al. Among authors: maxwell s. Brain. 2007 Jun;130(Pt 6):1507-15. doi: 10.1093/brain/awm072. Epub 2007 Apr 23. Brain. 2007. PMID: 17452375

8

Congenital myasthenic syndromes and the formation of the neuromuscular junction.

Beeson D, Webster R, Cossins J, Lashley D, Spearman H, Maxwell S, Slater CR, Newsom-Davis J, Palace J, Vincent A. Beeson D, et al. Among authors: maxwell s. Ann N Y Acad Sci. 2008;1132:99-103. doi: 10.1196/annals.1405.049. Ann N Y Acad Sci. 2008. PMID: 18567858

9

Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis.

Waters P, Jarius S, Littleton E, Leite MI, Jacob S, Gray B, Geraldes R, Vale T, Jacob A, Palace J, Maxwell S, Beeson D, Vincent A. Waters P, et al. Among authors: maxwell s. Arch Neurol. 2008 Jul;65(7):913-9. doi: 10.1001/archneur.65.7.913. Arch Neurol. 2008. PMID: 18625857

10

Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER. Vogt J, et al. Among authors: maxwell s. J Med Genet. 2009 May;46(5):338-40. doi: 10.1136/jmg.2008.065425. Epub 2009 Mar 3. J Med Genet. 2009. PMID: 19261599

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

842 results

Search Page

Filters