SM-Youtube

1

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA. Garcia CC, et al. Among authors: curtis a. J Med Genet. 2004 Mar;41(3):183-6. doi: 10.1136/jmg.2003.013680. J Med Genet. 2004. PMID: 14985377 Free PMC article.

2

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J. Goodship J, et al. Among authors: curtis a. J Med Genet. 1992 Jul;29(7):451-4. J Med Genet. 1992. PMID: 1640422 Free PMC article.

3

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

Wilson L, Curtis A, Korenberg JR, Schipper RD, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J. Wilson L, et al. Among authors: curtis a. Am J Hum Genet. 1993 Dec;53(6):1262-8. Am J Hum Genet. 1993. PMID: 8250042 Free PMC article.

4

Neuroferritinopathy in a French family with late onset dominant dystonia.

Chinnery PF, Curtis AR, Fey C, Coulthard A, Crompton D, Curtis A, Lombés A, Burn J. Chinnery PF, et al. Among authors: curtis ar, curtis a. J Med Genet. 2003 May;40(5):e69. doi: 10.1136/jmg.40.5.e69. J Med Genet. 2003. PMID: 12746423 Free PMC article. No abstract available.

5

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Curtis AR, et al. Among authors: curtis a. Nat Genet. 2001 Aug;28(4):350-4. doi: 10.1038/ng571. Nat Genet. 2001. PMID: 11438811

6

Association of less common cystic fibrosis mutations with a mild phenotype.

Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS. Curtis A, et al. J Med Genet. 1991 Jan;28(1):34-7. doi: 10.1136/jmg.28.1.34. J Med Genet. 1991. PMID: 1999830 Free PMC article.

7

Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.

Curtis A, Richardson RJ, Boohene J, Jackson A, Nelson R, Bhattacharya SS. Curtis A, et al. J Med Genet. 1993 Feb;30(2):164-6. doi: 10.1136/jmg.30.2.164. J Med Genet. 1993. PMID: 7680378 Free PMC article.

8

A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.

Langton KP, McKie N, Curtis A, Goodship JA, Bond PM, Barker MD, Clarke M. Langton KP, et al. Among authors: curtis a. J Biol Chem. 2000 Sep 1;275(35):27027-31. doi: 10.1074/jbc.M909677199. J Biol Chem. 2000. PMID: 10854443 Free article.

9

Neuroferritinopathy: a window on the role of iron in neurodegeneration.

Crompton DE, Chinnery PF, Fey C, Curtis AR, Morris CM, Kierstan J, Burt A, Young F, Coulthard A, Curtis A, Ince PG, Bates D, Jackson MJ, Burn J. Crompton DE, et al. Among authors: curtis ar, curtis a. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):522-31. doi: 10.1006/bcmd.2002.0589. Blood Cells Mol Dis. 2002. PMID: 12547246

10

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

Porteous ME, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Porteous ME, et al. Among authors: curtis a. J Med Genet. 1994 Dec;31(12):925-6. doi: 10.1136/jmg.31.12.925. J Med Genet. 1994. PMID: 7891373 Free PMC article.

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