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Elide Mantuano
AD Scientific Index 2024
Natural Sciences / Molecular Biology & Genetics
Institute of Translational Pharmacology, CNR - / Italy
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Elide Mantuano's MOST POPULAR ARTICLES
1-)
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p C Jodice, E Mantuano, L Veneziano, F Trettel, G Sabbadini, ... Human molecular genetics 6 (11), 1973-1978, 1997 3431997
2-)
X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene A Villa, L Notarangelo, P Macchi, E Mantuano, G Cavagni, D Brugnoni, ... Nature genetics 9 (4), 414-417, 1995 3151995
3-)
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2 S Guida, F Trettel, S Pagnutti, E Mantuano, A Tottene, L Veneziano, ... The American Journal of Human Genetics 68 (3), 759-764, 2001 1882001
4-)
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.P Giunti, G Sabbadini, MG Sweeney, MB Davis, L Veneziano, ...Brain: a journal of neurology 121 (3), 459-467, 19981291998
5-)
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.A Villa, LD Notarangelo, JP Di Santo, PP Macchi, D Strina, A Frattini, ...Proceedings of the National Academy of Sciences 91 (6), 2110-2114, 19941021994
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