Search Results - Dominissini, Silvia

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  1. 1
    Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes

    Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes by Zampieri, Stefania, Buratti, Emanuele, Dominissini, Silvia, Montalvo, Anna Lisa, Pittis, Maria Gabriela, Bembi, Bruno, Dardis, Andrea

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  2. 2
    Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

    Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event by Cozar, Monica, Bembi, Bruno, Dominissini, Silvia, Zampieri, Stefania, Vilageliu, Lluisa, Grinberg, Daniel, Dardis, Andrea

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  3. 3
    Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress

    Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress by Deganuto, Marta, Pittis, Maria Gabriela, Pines, Alex, Dominissini, Silvia, Kelley, Mark R., Garcia, Rodolfo, Quadrifoglio, Franco, Bembi, Bruno, Tell, Gianluca

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  4. 4
    Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme

    Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the β-glucosidase enzyme by Dardis, Andrea, Filocamo, Mirella, Grossi, Serena, Ciana, Giovanni, Franceschetti, Silvana, Dominissini, Silvia, Rubboli, Guido, Di Rocco, Maya, Bembi, Bruno

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  5. 5
    Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

    Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays by Dominissini, Silvia, Buratti, Emanuele, Bembi, Bruno, Baralle, Marco, Pittis, Maria Gabriela

    Published in Human mutation
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  6. 6
    Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the b- glucosidase enzyme

    Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the b- glucosidase enzyme by Dardis, Andrea, Filocamo, Mirella, Grossi, Serena, Ciana, Giovanni, Franceschetti, Silvana, Dominissini, Silvia, Rubboli, Guido, Di Rocco, Maya, Bembi, Bruno

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  7. 7
    36. Biochemical and molecular findings in a LIMP-2 deficient patient who presented with myoclonic epilepsy and no signs of renal involvement

    36. Biochemical and molecular findings in a LIMP-2 deficient patient who presented with myoclonic epilepsy and no signs of renal involvement by Dardis, Andrea, Filocamo, Mirella, Grossi, Serena, Ciana, Giovanni, Dominissini, Silvia, Rubboli, Guido, Rocco, Maja Di, Bembi, Bruno

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  8. 8
    Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1

    Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1 by Miočić, Snježana, Filocamo, Mirella, Dominissini, Silvia, Montalvo, Anna Lisa E., Vlahoviček, Kristian, Deganuto, Marta, Mazzotti, Raffaella, Cariati, Roberta, Bembi, Bruno, Pittis, Maria Gabriela

    Published in Human mutation
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  9. 9
    Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the [alpha]-Galactosidase A Protein

    Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the [alpha]-Galactosidase A Protein by Dominissini, Silvia, Cariati, Roberta, Nevyjel, Marco, Guerci, Veronica, Ciana, Giovanni, Bembi, Bruno, Pittis, Maria Gabriela

    Published in Human heredity
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  10. 10
    Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein

    Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein by Dominissini, Silvia, Cariati, Roberta, Nevyjel, Marco, Guerci, Veronica, Ciana, Giovanni, Bembi, Bruno, Pittis, Maria Gabriela

    Published in Human heredity
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  11. 11
    The effect of turbulence modelling on the assessment of platelet activation

    The effect of turbulence modelling on the assessment of platelet activation by Bozzi, Silvia, Dominissini, Davide, Redaelli, Alberto, Passoni, Giuseppe

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