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Page 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. Among authors: veneziano l. 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
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: veneziano l. 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.
Ordering of 44 genetic markers in the 6p22 cytogenetic band.
Trettel F, Malaspina P, Blasi P, Jodice C, Novelletto A, Sabbadini G, Veneziano L, Frontali M, Terrenato L. Trettel F, et al. Among authors: veneziano l. DNA Seq. 1996;7(1):51-2. doi: 10.3109/10425179609015648. DNA Seq. 1996. PMID: 9063639 No abstract available.
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: veneziano l. Gene. 2000 Jan 4;241(1):45-50. doi: 10.1016/s0378-1119(99)00470-9. Gene. 2000. PMID: 10607897 Free article.
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: veneziano l. 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.
70 results