Robb S - Search Results

1

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: robb s. Neuromuscul Disord. 2004 Jun;14(6):356-64. doi: 10.1016/j.nmd.2004.03.005. Neuromuscul Disord. 2004. PMID: 15145336 Clinical Trial.

2

Acetylcholine receptor antibodies in the elderly and in Down's syndrome.

Robb SA, Vincent A, McGregor MA, McGregor AM, Newsom-Davis JM. Robb SA, et al. J Neuroimmunol. 1985 Aug;9(3-4):139-46. doi: 10.1016/s0165-5728(85)80014-x. J Neuroimmunol. 1985. PMID: 3160723

3

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: robb s. Neurology. 2003 Sep 23;61(6):826-8. doi: 10.1212/01.wnl.0000085865.55513.ae. Neurology. 2003. PMID: 14504330

4

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bönnemann C, Muntoni F. Jungbluth H, et al. Among authors: robb s. Neuromuscul Disord. 2007 Apr;17(4):338-45. doi: 10.1016/j.nmd.2007.01.016. Epub 2007 Mar 21. Neuromuscul Disord. 2007. PMID: 17376685

5

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA. Kinali M, et al. Among authors: robb sa. J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15. J Neuroimmunol. 2008. PMID: 18707767

6

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7.

Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Lashley D, et al. Among authors: robb s. Neurology. 2010 May 11;74(19):1517-23. doi: 10.1212/WNL.0b013e3181dd43bf. Neurology. 2010. PMID: 20458068 Free PMC article. Clinical Trial.

7

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.

Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H. Forrest K, et al. Among authors: robb s. Neuromuscul Disord. 2010 Nov;20(11):709-11. doi: 10.1016/j.nmd.2010.06.003. Epub 2010 Jul 10. Neuromuscul Disord. 2010. PMID: 20624679

8

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F. Munot P, et al. Among authors: robb sa. Neuromuscul Disord. 2010 Dec;20(12):796-800. doi: 10.1016/j.nmd.2010.07.274. Epub 2010 Oct 14. Neuromuscul Disord. 2010. PMID: 20951040

9

Clinical features in a series of fast channel congenital myasthenia syndrome.

Palace J, Lashley D, Bailey S, Jayawant S, Carr A, McConville J, Robb S, Beeson D. Palace J, et al. Among authors: robb s. Neuromuscul Disord. 2012 Feb;22(2):112-7. doi: 10.1016/j.nmd.2011.08.002. Epub 2011 Sep 21. Neuromuscul Disord. 2012. PMID: 21940170

10

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D. Cossins J, et al. Among authors: robb s. Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1. Hum Mol Genet. 2012. PMID: 22661499

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

287 results

Search Page

Filters