Mantuano E - Search Results

1

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C. Mantuano E, et al. J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010. Epub 2010 Feb 2. J Neurol Sci. 2010. PMID: 20129625

2

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: mantuano e. 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.

3

Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.

Calandriello L, Veneziano L, Francia A, Sabbadini G, Colonnese C, Mantuano E, Jodice C, Trettel F, Viviani P, Manfredi M, Frontali M. Calandriello L, et al. Among authors: mantuano e. Brain. 1997 May;120 ( Pt 5):805-12. doi: 10.1093/brain/120.5.805. Brain. 1997. PMID: 9183251 Free article.

4

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Jodice C, et al. Among authors: mantuano e. Hum Mol Genet. 1997 Oct;6(11):1973-8. doi: 10.1093/hmg/6.11.1973. Hum Mol Genet. 1997. PMID: 9302278

5

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. Among authors: mantuano e. Brain. 1998 Mar;121 ( Pt 3):459-67. doi: 10.1093/brain/121.3.459. Brain. 1998. PMID: 9549522

6

Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1.

Mantuano E, Trettel F, Olsen AS, Lennon G, Frontali M, Jodice C. Mantuano E, et al. Gene. 1998 Jul 17;215(1):153-7. doi: 10.1016/s0378-1119(98)00254-6. Gene. 1998. PMID: 9666110 Free article.

7

A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.

Trettel F, Mantuano E, Calabresi V, Veneziano L, Olsen AS, Georgescu A, Gordon L, Sabbadini G, Frontali M, Jodice C. Trettel F, et al. Among authors: mantuano e. Gene. 2000 Jan 4;241(1):45-50. doi: 10.1016/s0378-1119(99)00470-9. Gene. 2000. PMID: 10607897 Free article.

8

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, Fellin T, Spadaro M, Stauderman K, Williams M, Volsen S, Ophoff R, Frants R, Jodice C, Frontali M, Pietrobon D. Guida S, et al. Among authors: mantuano e. Am J Hum Genet. 2001 Mar;68(3):759-64. doi: 10.1086/318804. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179022 Free PMC article.

9

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.

Mantuano E, Veneziano L, Jodice C, Frontali M. Mantuano E, et al. Cytogenet Genome Res. 2003;100(1-4):147-53. doi: 10.1159/000072849. Cytogenet Genome Res. 2003. PMID: 14526175 Review.

10

Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.

Mantuano E, Veneziano L, Spadaro M, Giunti P, Guida S, Leggio MG, Verriello L, Wood N, Jodice C, Frontali M. Mantuano E, et al. J Med Genet. 2004 Jun;41(6):e82. doi: 10.1136/jmg.2003.015396. J Med Genet. 2004. PMID: 15173248 Free PMC article. No abstract available.

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