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C. Jodice

American Journal of Human Genetics, Human Molecular Genetics, Nature Genetics, Brain : a journal of neurology, FEBS Letters, Acta Neurologica Scandinavica, Cytogenetic and Genome Research, Journal of Medical Genetics Show more
10
Role
Title
Level Year L/R
🦁 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
13 auth. C. Jodice, E. Mantuano, L. Veneziano, F. Trettel, G. Sabbadini, L. Calandriello, A. Francia, M. Spadaro, F. Pierelli, F. Salvi, ... R. Ophoff, R. Frants, M. Frontali 		8 1997
8
🦁
🐜 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
16 auth. S. Guida, F. Trettel, S. Pagnutti, E. Mantuano, A. Tottene, L. Veneziano, Tommaso Fellin, M. Spadaro, K. Stauderman, Mark E. Williams, ... S. Volsen, R. Ophoff, R. Frants, C. Jodice, M. Frontali, D. Pietrobon 		7 2001
7
🐜
🦁 Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
10 auth. C. Jodice, P. Malaspina, F. Persichetti, A. Novelletto, M. Spadaro, P. Giunti, ... C. Morocutti, L. Terrenato, A. Harding, M. Frontali 		6 1994
6
🦁
🐜 The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.
10 auth. H. Zoghbi, C. Jodice, L. Sandkuijl, T. Kwiatkowski, A. McCall, Huntoon Sa, ... P. Lulli, M. Spadaro, M. Litt, H. Cann 		6 1991
6
🐜
🐜 Are (CTG)n expansions at the SCA8 locus rare polymorphisms?
7 auth. G. Stevanin, Alexandra Herman, A. Dürr, C. Jodice, M. Frontali, Y. Agid, ... A. Brice 		6 2000
6
🐜
🐜 The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias.
8 auth. A. Harding, P. Giunti, M. Sweeney, M. Spadaro, C. Jodice, A. Novelletto, ... P. Malaspina, M. Frontali 		6 1994
6
🐜
🐜 The AXH module: an independently folded domain common to ataxin‐1 and HBP1
9 auth. C. D. Chiara, C. Giannini, S. Adinolfi, J. D. Boer, S. Guida, A. Ramos, ... C. Jodice, D. Kioussis, A. Pastore 		6 2003
6
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🐜 HLA‐linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds
11 auth. M. Spadaro, P. Giunti, P. Lulli, M. Frontali, C. Jodice, S. Cappellacci, ... M. Morellini, F. Persichetti, S. Trabace, R. Anastasi, C. Morocutti 		5 1992
5
🐜
🐬 Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders
E. Mantuano, L. Veneziano, C. Jodice, M. Frontali 		5 2003
5
🐬
🐜 Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2
10 auth. E. Mantuano, L. Veneziano, M. Spadaro, P. Giunti, Serena Guida, M. Leggio, ... L. Verriello, Nicholas W. Wood, C. Jodice, M. Frontali 		5 2004
5
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