Storey E - Search Results

1

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.

Fahey MC, Knight MA, Shaw JH, Gardner RJ, du Sart D, Lockhart PJ, Delatycki MB, Gates PC, Storey E. Fahey MC, et al. Among authors: storey e. J Neurol Neurosurg Psychiatry. 2005 Dec;76(12):1720-2. doi: 10.1136/jnnp.2004.044115. J Neurol Neurosurg Psychiatry. 2005. PMID: 16291902 Free PMC article.

2

The D178N (cis-129M) "fatal familial insomnia" mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.

McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenáková L, Brown P. McLean CA, et al. Among authors: storey e. Neurology. 1997 Aug;49(2):552-8. doi: 10.1212/wnl.49.2.552. Neurology. 1997. PMID: 9270595

3

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

4

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

5

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

6

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.

7

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness.

Amor DJ, Delatycki MB, Gardner RJ, Storey E. Amor DJ, et al. Among authors: storey e. Am J Med Genet. 2001 Feb 15;99(1):29-33. doi: 10.1002/1096-8628(20010215)99:1<29::aid-ajmg1119>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11170090 Review.

8

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

9

Near-total absence of the cerebellum.

Gardner RJ, Coleman LT, Mitchell LA, Smith LJ, Harvey AS, Scheffer IE, Storey E, Nowotny MJ, Sloane RA, Lubitz L. Gardner RJ, et al. Among authors: storey e. Neuropediatrics. 2001 Apr;32(2):62-8. doi: 10.1055/s-2001-13882. Neuropediatrics. 2001. PMID: 11414645

10

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.

Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, Robertson SP, Nicholson GA. Kennerson ML, et al. Among authors: storey e. Am J Hum Genet. 2001 Oct;69(4):883-8. doi: 10.1086/323743. Epub 2001 Aug 28. Am J Hum Genet. 2001. PMID: 11533912 Free PMC article.

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