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Episodic Ataxias: Faux or Real?
Giunti P, Mantuano E, Frontali M. Giunti P, et al. Among authors: mantuano e. Int J Mol Sci. 2020 Sep 5;21(18):6472. doi: 10.3390/ijms21186472. Int J Mol Sci. 2020. PMID: 32899446 Free PMC article. Review.
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.
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.
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.
102 results