Giunti P - Search Results

1

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

Giunti P, Sabbadini G, Sweeney MG, Davis MB, Veneziano L, Mantuano E, Federico A, Plasmati R, Frontali M, Wood NW. Giunti P, et al. Brain. 1998 Mar;121 ( Pt 3):459-67. doi: 10.1093/brain/121.3.459. Brain. 1998. PMID: 9549522

2

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.

Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelletto A, Malaspina P, Frontali M, Harding AE. Giunti P, et al. Brain. 1994 Aug;117 ( Pt 4):645-9. doi: 10.1093/brain/117.4.645. Brain. 1994. PMID: 7922453 Free article.

3

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. Worth PF, et al. Among authors: giunti p. Am J Hum Genet. 1999 Aug;65(2):420-6. doi: 10.1086/302495. Am J Hum Genet. 1999. PMID: 10417284 Free PMC article.

4

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth.

Giunti P, Sweeney MG, Harding AE. Giunti P, et al. Brain. 1995 Oct;118 ( Pt 5):1077-85. doi: 10.1093/brain/118.5.1077. Brain. 1995. PMID: 7496771

5

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

6

Autosomal dominant pure cerebellar ataxia. Neurological and genetic study.

Frontali M, Spadaro M, Giunti P, Bianco F, Jodice C, Persichetti F, Colazza GB, Lulli P, Terrenato L, Morocutti C. Frontali M, et al. Among authors: giunti p. Brain. 1992 Dec;115 ( Pt 6):1647-54. doi: 10.1093/brain/115.6.1647. Brain. 1992. PMID: 1486455

7

[Clinical study of two families with late-onset autosomal dominant spinal-cerebellar ataxia linked with HLA. Preliminary results].

Giunti P, Spadaro M, Frontali M, Bianco F, Morocutti C. Giunti P, et al. Riv Neurol. 1990 Sep-Oct;60(5):176-9. Riv Neurol. 1990. PMID: 2100035 Italian.

8

Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions.

Frontali M, Sabbadini G, Novelletto A, Jodice C, Naso F, Spadaro M, Giunti P, Jacopini AG, Veneziano L, Mantuano E, Malaspina P, Ulizzi L, Brice A, Durr A, Terrenato L. Frontali M, et al. Among authors: giunti p. Ann Hum Genet. 1996 Sep;60(5):423-35. doi: 10.1111/j.1469-1809.1996.tb00440.x. Ann Hum Genet. 1996. PMID: 8912795 Free article.

9

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.

Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW. Giunti P, et al. Am J Hum Genet. 1999 Jun;64(6):1594-603. doi: 10.1086/302406. Am J Hum Genet. 1999. PMID: 10330346 Free PMC article.

10

Spinocerebellar ataxia type 11.

Giunti P, Houlden H, Gardner-Thorpe C, Worth PF, Johnson J, Hilton DA, Revesz T, Davis MB, Wood NW. Giunti P, et al. Handb Clin Neurol. 2012;103:521-34. doi: 10.1016/B978-0-444-51892-7.00033-4. Handb Clin Neurol. 2012. PMID: 21827911 Review. No abstract available.

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