Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p
Jodice, Carla, Mantuano, Elide, Veneziano, Liana, Trettel, Flavia, Sabbadini, Guglielmo, Calandriello, Luigi, Francia, Ada, Spadaro, Maria, Pierelli, Francesco, Salvi, Fabrizio, Ophoff, Roel A., Frants, Rune R., Frontali, Marina
Published in Human molecular genetics (01.10.1997)
Published in Human molecular genetics (01.10.1997)
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The AXH module: an independently folded domain common to ataxin-1 and HBP1
de Chiara, C., Giannini, C., Adinolfi, S., de Boer, J., Guida, S., Ramos, A., Jodice, C., Kioussis, D., Pastore, A.
Published in FEBS letters (11.09.2003)
Published in FEBS letters (11.09.2003)
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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, M G, Verriello, L, Wood, N, Jodice, C, Frontali, M
Published in Journal of medical genetics (01.06.2004)
Published in Journal of medical genetics (01.06.2004)
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Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I
JODICE, C, MALASPINA, P, PERSICHETTI, F, NOVELLETTO, A, SPADARO, M, GIUNTI, P, MOROCUTTI, C, TERRENATO, L, HARDING, A. E, FRONTALI, M
Published in American journal of human genetics (01.06.1994)
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Published in American journal of human genetics (01.06.1994)
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Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations
Ciminelli, B M, Pompei, F, Malaspina, P, Hammer, M, Persichetti, F, Pignatti, P F, Palena, A, Anagnou, N, Guanti, G, Jodice, C
Published in Journal of molecular evolution (01.12.1995)
Published in Journal of molecular evolution (01.12.1995)
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Population variation analysis at nine loci containing expressed trinucleotide repeats
JODICE, C., GIOVANNONE, B., CALABRESI, V., BELLOCCHI, M., TERRENATO, L., NOVELLETTO, A.
Published in Annals of human genetics (01.09.1997)
Published in Annals of human genetics (01.09.1997)
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Disequilibrium of multiple DNA markers on the human Y chromosome
PERSICHETTP, F., BLASI, P., HAMMER, M., MALASPINA, P., JODICE, C., TERRENATO, L., NOVELLETTO, A.
Published in Annals of human genetics (01.10.1992)
Published in Annals of human genetics (01.10.1992)
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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, A. G., VENEZIANO, L., MANTUANO, E., MALASPPNA, P., ULIZZI, L., BRICE, A., DURR, A., TERRENATO, L.
Published in Annals of human genetics (01.09.1996)
Published in Annals of human genetics (01.09.1996)
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HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds
Spadaro, M, Giunti, P, Lulli, P, Frontali, M, Jodice, C, Cappellacci, S, Morellini, M, Persichetti, F, Trabace, S, Anastasi, R
Published in Acta neurologica Scandinavica (01.04.1992)
Published in Acta neurologica Scandinavica (01.04.1992)
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The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus
KWIATKOWSKI, T. J, ORR, H. T, SUBRAMONY, S. H, BEAUDET, A. L, TERRENATO, L, ZOGHBI, H. Y, RANUM, L. P. W, BANFI, S, MCCALL, A. E, JODICE, C, PERSICHETTI, F, NOVELLETTO, A, LE BORGNE-DE MARQUOY, F, DUVICK, L. A, FRONTALI, M
Published in American journal of human genetics (01.08.1993)
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Published in American journal of human genetics (01.08.1993)
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Latitude-Correlated Genetic Polymorphisms: Selection or Gene Flow?
CIMINELLI, B.M., JODICE, C., SCOZZARI, R., CORBO, R.M., NAHUM, M., POMPEI, F., SANTACHIARA-BENERECETTI, S.A., SANTOLAMAZZA, C., MORPURGO, G.P., MODIANO, G.
Published in Human biology (01.08.2000)
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Published in Human biology (01.08.2000)
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Acetazolamide-responsive episodic ataxia in an italian family refines gene mapping on chromosome 19p13
CALANDRIELLO, L, VENEZIANO, L, FRONTALI, M, FRANCIA, A, SABBADINI, G, COLONNESE, C, MANTUANO, E, JODICE, C, TRETTEL, F, VIVIANI, P, MANFREDI, M
Published in Brain (London, England : 1878) (01.05.1997)
Published in Brain (London, England : 1878) (01.05.1997)
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Autosomal dominant pure cerebellar ataxia. Neurological and genetic study
Frontali, M, Spadaro, M, Giunti, P, Bianco, F, Jodice, C, Persichetti, F, Colazza, G B, Lulli, P, Terrenato, L, Morocutti, C
Published in Brain (London, England : 1878) (01.12.1992)
Published in Brain (London, England : 1878) (01.12.1992)
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The EUROGEM map of human chromosome 6
Terrenato, L, Jodice, C, Blasi, P, Loizedda, A, Contu, L, Buard, J, Vergnaud, G, Humphries, P, Kumar-Singh, R, Massart, C
Published in European journal of human genetics : EJHG (1994)
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Published in European journal of human genetics : EJHG (1994)
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Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2
Guida, Serena, Trettel, Flavia, Pagnutti, Stefano, Mantuano, Elide, Tottene, Angelita, Veneziano, Liana, Fellin, Tommaso, Spadaro, Maria, Stauderman, Kenneth A., Williams, Mark E., Volsen, Stephen, Ophoff, Roel A., Frants, Rune R., Jodice, Carla, Frontali, Marina, Pietrobon, Daniela
Published in American journal of human genetics (01.03.2001)
Published in American journal of human genetics (01.03.2001)
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Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders: Nucleotide and protein expansions and human disease
MANTUANO, E, VENEZIANO, L, JODICE, C, FRONTALI, M
Published in Cytogenetic and genome research (2003)
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Published in Cytogenetic and genome research (2003)
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