Storey E - Search Results

1

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: storey e. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 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

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

4

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.

5

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.

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

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

8

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

9

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.

Vinton A, Fahey MC, O'Brien TJ, Shaw J, Storey E, Gardner RJ, Mitchell PJ, Du Sart D, King JO. Vinton A, et al. Among authors: storey e. Am J Med Genet A. 2005 Jul 15;136(2):201-4. doi: 10.1002/ajmg.a.30355. Am J Med Genet A. 2005. PMID: 15948186

10

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.

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