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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: frontali m. 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
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: frontali m. 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: frontali m. 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: frontali m. 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.
Family and molecular data for a fine analysis of age at onset in Huntington disease.
Squitieri F, Sabbadini G, Mandich P, Gellera C, Di Maria E, Bellone E, Castellotti B, Nargi E, de Grazia U, Frontali M, Novelletto A. Squitieri F, et al. Among authors: frontali m. Am J Med Genet. 2000 Dec 11;95(4):366-73. doi: 10.1002/1096-8628(20001211)95:4<366::aid-ajmg13>3.0.co;2-2. Am J Med Genet. 2000. PMID: 11186892
110 results