Robb SA - Search Results

1

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.

Clayton-Smith J, Webb T, Robb SA, Dijkstra I, Willems P, Lam S, Cheng XJ, Pembrey ME, Malcolm S. Clayton-Smith J, et al. Among authors: robb sa. Am J Med Genet. 1992 Sep 15;44(2):256-60. doi: 10.1002/ajmg.1320440236. Am J Med Genet. 1992. PMID: 1360768

2

Uniparental paternal disomy in Angelman's syndrome.

Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JA, Jeffreys AJ, Pembrey ME. Malcolm S, et al. Lancet. 1991 Mar 23;337(8743):694-7. doi: 10.1016/0140-6736(91)90278-w. Lancet. 1991. PMID: 1672177

3

Deletion 9p and sex reversal.

Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D. Bennett CP, et al. Among authors: robb sa. J Med Genet. 1993 Jun;30(6):518-20. doi: 10.1136/jmg.30.6.518. J Med Genet. 1993. PMID: 8326498 Free PMC article.

4

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.

Hourihane JO, Bennett CP, Chaudhuri R, Robb SA, Martin ND. Hourihane JO, et al. Among authors: robb sa. Neuropediatrics. 1993 Feb;24(1):43-6. doi: 10.1055/s-2008-1071511. Neuropediatrics. 1993. PMID: 7682675

5

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Peall KJ, Lumsden D, Kneen R, Madhu R, Peake D, Gibbon F, Lewis H, Hedderly T, Meyer E, Robb SA, Lynch B, King MD, Lin JP, Morris HR, Jungbluth H, Kurian MA. Peall KJ, et al. Among authors: robb sa. Dev Med Child Neurol. 2014 Jul;56(7):642-8. doi: 10.1111/dmcn.12323. Epub 2013 Oct 31. Dev Med Child Neurol. 2014. PMID: 24171694 Free article.

6

Neurocysticercosis masquerading as a cerebral infarct.

Wraige E, Graham J, Robb SA, Jan W. Wraige E, et al. Among authors: robb sa. J Child Neurol. 2003 Apr;18(4):298-300. doi: 10.1177/08830738030180040501. J Child Neurol. 2003. PMID: 12760435

7

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.

Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. Houlden H, et al. Among authors: robb sa. Neuromuscul Disord. 2009 Apr;19(4):264-9. doi: 10.1016/j.nmd.2009.01.006. Epub 2009 Mar 9. Neuromuscul Disord. 2009. PMID: 19272779

8

Congenital myopathies: Natural history of a large pediatric cohort.

Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F. Colombo I, et al. Among authors: robb sa. Neurology. 2015 Jan 6;84(1):28-35. doi: 10.1212/WNL.0000000000001110. Epub 2014 Nov 26. Neurology. 2015. PMID: 25428687 Free PMC article.

9

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.

Singh RR, Tan SV, Hanna MG, Robb SA, Clarke A, Jungbluth H. Singh RR, et al. Among authors: robb sa. Pediatrics. 2014 Nov;134(5):e1447-50. doi: 10.1542/peds.2013-3727. Epub 2014 Oct 13. Pediatrics. 2014. PMID: 25311598

10

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Pitceathly RD, et al. Among authors: robb sa. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933740 Free PMC article.

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