Giunti P - Search Results

1

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.

Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP. Mencacci NE, et al. Among authors: giunti p. Am J Hum Genet. 2016 Apr 7;98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015. Am J Hum Genet. 2016. PMID: 27058447 Free PMC article.

2

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.

Spadaro M, Ursu S, Lehmann-Horn F, Veneziano L, Antonini G, Giunti P, Frontali M, Jurkat-Rott K. Spadaro M, et al. Among authors: giunti p. Neurogenetics. 2004 Sep;5(3):177-85. doi: 10.1007/s10048-004-0183-2. Epub 2004 Jul 31. Neurogenetics. 2004. PMID: 15459825

3

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

4

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.

5

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.

6

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

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 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

9

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.

10

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.

Novak MJ, Sweeney MG, Li A, Treacy C, Chandrashekar HS, Giunti P, Goold RG, Davis MB, Houlden H, Tabrizi SJ. Novak MJ, et al. Among authors: giunti p. Mov Disord. 2010 Oct 15;25(13):2176-82. doi: 10.1002/mds.23223. Mov Disord. 2010. PMID: 20669319

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