Giunti P - Search Results

1

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Houlden H, et al. Among authors: giunti p. Nat Genet. 2007 Dec;39(12):1434-6. doi: 10.1038/ng.2007.43. Epub 2007 Nov 25. Nat Genet. 2007. PMID: 18037885

2

Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases.

Pang JT, Giunti P, Chamberlain S, An SF, Vitaliani R, Scaravilli T, Martinian L, Wood NW, Scaravilli F, Ansorge O. Pang JT, et al. Among authors: giunti p. Brain. 2002 Mar;125(Pt 3):656-63. doi: 10.1093/brain/awf060. Brain. 2002. PMID: 11872620

3

Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats.

Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F. Ansorge O, et al. Among authors: giunti p. Ann Neurol. 2004 Sep;56(3):448-52. doi: 10.1002/ana.20230. Ann Neurol. 2004. PMID: 15349877

4

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

Khan NL, Giunti P, Sweeney MG, Scherfler C, Brien MO, Piccini P, Wood NW, Lees AJ. Khan NL, et al. Among authors: giunti p. Mov Disord. 2005 Sep;20(9):1115-9. doi: 10.1002/mds.20564. Mov Disord. 2005. PMID: 15954136

5

The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity.

van de Warrenburg BP, Giunti P, Schneider SA, Quinn NP, Wood NW, Bhatia KP. van de Warrenburg BP, et al. Among authors: giunti p. J Neurol Neurosurg Psychiatry. 2007 Jul;78(7):774-5. doi: 10.1136/jnnp.2006.105841. Epub 2006 Dec 8. J Neurol Neurosurg Psychiatry. 2007. PMID: 17158558 Free PMC article. No abstract available.

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: giunti p. 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

Prolonged cortical silent period but normal sensorimotor plasticity in spinocerebellar ataxia 6.

Teo JT, Schneider SA, Cheeran BJ, Fernandez-del-Olmo M, Giunti P, Rothwell JC, Bhatia KP. Teo JT, et al. Among authors: giunti p. Mov Disord. 2008 Feb 15;23(3):378-85. doi: 10.1002/mds.21847. Mov Disord. 2008. PMID: 18074367

8

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.

Matilla-Dueñas A, Goold R, Giunti P. Matilla-Dueñas A, et al. Among authors: giunti p. Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008-0009-0. Cerebellum. 2008. PMID: 18418661 Review.

9

Clinical and genetic analysis of spinocerebellar ataxia type 11.

Johnson J, Wood N, Giunti P, Houlden H. Johnson J, et al. Among authors: giunti p. Cerebellum. 2008;7(2):159-64. doi: 10.1007/s12311-008-0022-3. Cerebellum. 2008. PMID: 18418680

10

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.

van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H. van de Leemput J, et al. Among authors: giunti p. Mov Disord. 2010 Apr 30;25(6):771-3. doi: 10.1002/mds.22970. Mov Disord. 2010. PMID: 20437544 Free PMC article.

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