Search Results - Mirella Filocamo

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  1. 1
    Lysosomal storage disorders: Molecular basis and laboratory testing

    Lysosomal storage disorders: Molecular basis and laboratory testing by Mirella Filocamo, Amelia Morrone

    Published 2011
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  2. 2
    Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

    Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know by Mirella Filocamo, Rosella Tomanin, Francesca Bertola, Amelia Morrone

    Published 2018
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  3. 3
    Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

    Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase by Inna Bendikov-Bar, Gali Maor, Mirella Filocamo, Mia Horowitz

    Published 2012
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  4. 4
    Unfolded protein response in Gaucher disease: from human to Drosophila

    Unfolded protein response in Gaucher disease: from human to Drosophila by Gali Maor, Sigal Rencus‐Lazar, Mirella Filocamo, Hermann Steller, Daniel Segal, Mia Horowitz

    Published 2013
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  5. 5
    Mutation Update of<i>ARSA</i>and<i>PSAP</i>Genes Causing Metachromatic Leukodystrophy

    Mutation Update of<i>ARSA</i>and<i>PSAP</i>Genes Causing Metachromatic Leukodystrophy by Martina Cesani, Laura Lorioli, Serena Grossi, Giulia Amico, Francesca Fumagalli, Ivana Spiga, Mirella Filocamo, Alessandra Biffi

    Published 2015
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  6. 6
    Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

    Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis by Mariarosaria Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco, Mirella Filocamo

    Published 2007
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  7. 7
    Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling

    Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling by Ilaria Zancan, Stefania Bellesso, Roberto Costa, Marika Salvalaio, Marina Stroppiano, Chrissy L. Hammond, Francesco Argenton, Mirella Filocamo, Enrico Moro

    Published 2014
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  8. 8
    Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes

    Pseudogene-mediated posttranscriptional silencing of HMGA1 can result in insulin resistance and type 2 diabetes by Eusebio Chiefari, Stefania Iiritano, Francesco Paonessa, Ilaria Le Pera, Biagio Arcidiacono, Mirella Filocamo, Daniela Foti, Stephen A. Liebhaber, Antonio Brunetti

    Published 2010
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  9. 9
    SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

    SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants by Stefania Zampieri, Mirella Filocamo, Annalisa Pianta, Susanna Lualdi, Laura Gort, María José Coll, Richard Sinnott, Tarekegn Geberhiwot, Bruno Bembi, Andrea Dardis

    Published 2015
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  10. 10
    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases by Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri

    Published 2014
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  11. 11
    Functional analysis of 11 novel GBA alleles

    Functional analysis of 11 novel GBA alleles by Erika Malini, Serena Grossi, Marta Deganuto, Camillo Rosano, Rossella Parini, Silvia Dominisini, Roberta Cariati, Stefania Zampieri, Bruno Bembi, Mirella Filocamo, Andrea Dardis

    Published 2013
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  12. 12
    Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II

    Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II by Roberto Costa, Andrea Urbani, Marika Salvalaio, Stefania Bellesso, Domenico Cieri, Ilaria Zancan, Mirella Filocamo, Paolo Bonaldo, Ildikò Szabó, Rosella Tomanin, Enrico Moro

    Published 2017
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  13. 13
    Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

    Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases by Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, C. Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto, Francesca Bricarelli

    Published 2013
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  14. 14
    Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

    Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy by Giacomo Frati, Marco Luciani, Vasco Meneghini, Silvia De Cicco, Marcus Ståhlman, Maria Blomqvist, Serena Grossi, Mirella Filocamo, Francesco Morena, Andrea Menegon, Sabata Martino, Angela Gritti

    Published 2018
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  15. 15
    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

    Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease by Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, D.N. Cooper, Mirella Filocamo

    Published 2010
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  16. 16
    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy by Filippo M. Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati

    Published 2013
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  17. 17
    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease

    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease by Giancarlo Parenti, A Zuppaldi, María Gabriela Pittis, Maria Rosaria Tuzzi, Ida Annunziata, Germana Meroni, Caterina Porto, Francesca Donaudy, Barbara Rossi, Massimiliano Rossi, Mirella Filocamo, Alice Donati, Bruno Bembi, Andrea Ballabio, Generoso Andria

    Published 2007
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  18. 18
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles by Francesca Bertola, Mirella Filocamo, Giorgio Casati, Matthew Mort, Camillo Rosano, Anna Tylki‐Szymańska, Beyhan Tüysüz, Orazio Gabrielli, Serena Grossi, Maurizio Scarpa, Giancarlo Parenti, Daniela Antuzzi, Jaime Dalmau, Maja Di Rocco, Carlo Dionisi‐Vici, İlyas Okur, Jordi Rosell, Attilio Rovelli, Francesca Furlan, Miriam Rigoldi, Andrea Biondi, D.N. Cooper, Rossella Parini

    Published 2011
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  19. 19
    The RD-Connect Registry &amp; Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

    The RD-Connect Registry &amp; Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers by Sabina Gainotti, Paola Torreri, Chiuhui Mary Wang, Robert Reihs, Heimo Mueller, Emma Heslop, Marco Roos, Dorota M. Badowska, Federico de Paulis, Yllka Kodra, Claudio Carta, Estrella López‐Martín, Vanessa Rangel Miller, Mirella Filocamo, Marina Mora, Mark Thompson, Yaffa Rubinstein, Manuel Posada de la Paz, Lucía Monaco, Hanns Lochmüller, Domenica Taruscio

    Published 2018
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  20. 20
    The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations

    The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations by Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova, Nataniel Floriano Ludwig, Michael J. Friez, Sara Cathey, Mirella Filocamo, Barbara Tappino, Nilay Güneş, Beyhan Tüysüz, Karen Tylee, Kathryn L. Brammeier, Lesley Heptinstall, Esmée Oussoren, Ans T. van der Ploeg, Christine Petersen, Sandra Alves, Gloria Durán Saavedra, Ida Vanessa Döederlein Schwartz, Nicole Muschol, Kerstin Kutsche, Sandra Pohl

    Published 2019
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