Robb S - Search Results

1

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Among authors: robb s. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.

2

A clinical and molecular genetic study of dentatorubropallidoluysian atrophy in four European families.

Warner TT, Williams LD, Walker RW, Flinter F, Robb SA, Bundey SE, Honavar M, Harding AE. Warner TT, et al. Among authors: robb sa. Ann Neurol. 1995 Apr;37(4):452-9. doi: 10.1002/ana.410370407. Ann Neurol. 1995. PMID: 7717681

3

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. Among authors: robb s. Neuromuscul Disord. 1997 Jun;7(4):211-6. doi: 10.1016/s0960-8966(97)00461-6. Neuromuscul Disord. 1997. PMID: 9196901

4

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.

5

Prenatal onset spinal muscular atrophy.

MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA. MacLeod MJ, et al. Among authors: robb sa. Eur J Paediatr Neurol. 1999;3(2):65-72. doi: 10.1053/ejpn.1999.0184. Eur J Paediatr Neurol. 1999. PMID: 10700541

6

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

7

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

8

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

9

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.

10

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

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