Storey E - Search Results

1

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.

Knight MA, Storey E, McKinlay Gardner RJ, Hand P, Forrest SM. Knight MA, et al. Among authors: storey e. Hum Mutat. 2000 Oct;16(4):374. doi: 10.1002/1098-1004(200010)16:4<374::AID-HUMU15>3.0.CO;2-4. Hum Mutat. 2000. PMID: 11013453 No abstract available.

2

Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction.

Storey E, Forrest SM, Shaw JH, Mitchell P, Gardner RJ. Storey E, et al. Arch Neurol. 1999 Jan;56(1):43-50. doi: 10.1001/archneur.56.1.43. Arch Neurol. 1999. PMID: 9923760

3

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

Smith MJ, Gardner RJ, Knight MA, Forrest SM, Beyreuther K, Storey E, McLean CA, Cotton RG, Cappal R, Masters CL. Smith MJ, et al. Among authors: storey e. Neuroreport. 1999 Feb 25;10(3):503-7. doi: 10.1097/00001756-199902250-00011. Neuroreport. 1999. PMID: 10208579

4

Clinical and genetic study of Friedreich ataxia in an Australian population.

Delatycki MB, Paris DB, Gardner RJ, Nicholson GA, Nassif N, Storey E, MacMillan JC, Collins V, Williamson R, Forrest SM. Delatycki MB, et al. Among authors: storey e. Am J Med Genet. 1999 Nov 19;87(2):168-74. doi: 10.1002/(sici)1096-8628(19991119)87:2<168::aid-ajmg8>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10533031

5

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.

Storey E, du Sart D, Shaw JH, Lorentzos P, Kelly L, McKinley Gardner RJ, Forrest SM, Biros I, Nicholson GA. Storey E, et al. Am J Med Genet. 2000 Dec 11;95(4):351-7. doi: 10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r. Am J Med Genet. 2000. PMID: 11186889

6

A new autosomal dominant pure cerebellar ataxia.

Storey E, Gardner RJ, Knight MA, Kennerson ML, Tuck RR, Forrest SM, Nicholson GA. Storey E, et al. Neurology. 2001 Nov 27;57(10):1913-5. doi: 10.1212/wnl.57.10.1913. Neurology. 2001. PMID: 11723290

7

Clinical features of a large Australian pedigree with episodic ataxia type 1.

Hand PJ, Gardner RJ, Knight MA, Forrest SM, Storey E. Hand PJ, et al. Among authors: storey e. Mov Disord. 2001 Sep;16(5):938-9. doi: 10.1002/mds.1169. Mov Disord. 2001. PMID: 11746627 No abstract available.

8

A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis.

Aksoy H, Dean G, Elian M, Deng HX, Deng G, Juneja T, Storey E, McKinlay Gardner RJ, Jacob RL, Laing NG, Siddique T. Aksoy H, et al. Among authors: storey e. Neuroepidemiology. 2003 Jul-Aug;22(4):235-8. doi: 10.1159/000070564. Neuroepidemiology. 2003. PMID: 12792143

9

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant.

Knight MA, Kennerson ML, Anney RJ, Matsuura T, Nicholson GA, Salimi-Tari P, Gardner RJ, Storey E, Forrest SM. Knight MA, et al. Among authors: storey e. Neurobiol Dis. 2003 Jul;13(2):147-57. doi: 10.1016/s0969-9961(03)00029-9. Neurobiol Dis. 2003. PMID: 12828938

10

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

Knight MA, Gardner RJ, Bahlo M, Matsuura T, Dixon JA, Forrest SM, Storey E. Knight MA, et al. Among authors: storey e. Brain. 2004 May;127(Pt 5):1172-81. doi: 10.1093/brain/awh139. Epub 2004 Mar 3. Brain. 2004. PMID: 14998916

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