Robb SA - Search Results

1

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

2

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?

Taylor J, Muntoni F, Robb S, Dubowitz V, Sewry C. Taylor J, et al. Neuromuscul Disord. 1997 Jun;7(4):211-6. doi: 10.1016/s0960-8966(97)00461-6. Neuromuscul Disord. 1997. PMID: 9196901

3

Absence of alpha-sarcoglycan and novel missense mutations in the alpha-sarcoglycan gene in a young British girl with muscular dystrophy.

Quinlivan RM, Robb SA, Sewry C, Dubowitz V, Piccolo F, Kaplan JC. Quinlivan RM, et al. Among authors: robb sa. Dev Med Child Neurol. 1997 Nov;39(11):770-4. doi: 10.1111/j.1469-8749.1997.tb07381.x. Dev Med Child Neurol. 1997. PMID: 9393893 Free article.

4

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

Kerr TP, Sewry CA, Robb SA, Roberts RG. Kerr TP, et al. Among authors: robb sa. Hum Genet. 2001 Oct;109(4):402-7. doi: 10.1007/s004390100598. Hum Genet. 2001. PMID: 11702221

5

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

6

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

7

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F. Jungbluth H, et al. Among authors: robb sa. Neurology. 2005 Dec 27;65(12):1930-5. doi: 10.1212/01.wnl.0000188870.37076.f2. Neurology. 2005. PMID: 16380615

8

Backache in a Duchenne boy.

Kinali M, Robinson R, Manzur AY, Burren CP, Robb SA. Kinali M, et al. Among authors: robb sa. Neuromuscul Disord. 2007 Apr;17(4):346-8. doi: 10.1016/j.nmd.2007.01.008. Epub 2007 Mar 6. Neuromuscul Disord. 2007. PMID: 17339110 No abstract available.

9

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. 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

10

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. Zhou H, et al. Brain. 2007 Aug;130(Pt 8):2024-36. doi: 10.1093/brain/awm096. Epub 2007 May 4. Brain. 2007. PMID: 17483490 Free article.

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