Knight MA - Search Results

1

Gardner RJ, Knight MA, Hara K, Tsuji S, Forrest SM, Storey E. Gardner RJ, et al. Among authors: knight ma. Cerebellum. 2005;4(1):47-50. doi: 10.1080/14734220410019029. Cerebellum. 2005. PMID: 15895559 Review.

2

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. Neurobiol Dis. 2003 Jul;13(2):147-57. doi: 10.1016/s0969-9961(03)00029-9. Neurobiol Dis. 2003. PMID: 12828938

3

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. Brain. 2004 May;127(Pt 5):1172-81. doi: 10.1093/brain/awh139. Epub 2004 Mar 3. Brain. 2004. PMID: 14998916

4

Spinocerebellar ataxia type 20.

Storey E, Knight MA, Forrest SM, Gardner RJ. Storey E, et al. Among authors: knight ma. Cerebellum. 2005;4(1):55-7. doi: 10.1080/14734220410019048. Cerebellum. 2005. PMID: 15895561

5

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. Among authors: knight ma. Neurology. 2001 Nov 27;57(10):1913-5. doi: 10.1212/wnl.57.10.1913. Neurology. 2001. PMID: 11723290

6

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. van de Leemput J, et al. Among authors: knight ma. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16. PLoS Genet. 2007. PMID: 17590087 Free PMC article.

7

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.

Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. Knight MA, et al. Hum Mol Genet. 2008 Dec 15;17(24):3847-53. doi: 10.1093/hmg/ddn283. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801880 Free PMC article.

8

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. 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.

9

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: knight ma. Mov Disord. 2001 Sep;16(5):938-9. doi: 10.1002/mds.1169. Mov Disord. 2001. PMID: 11746627 No abstract available.

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: knight ma. 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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