Showing 1 - 13 results of 13 for search 'Sara Missaglia', query time: 0.04s Refine Results
  1. 1
    Neutral lipid storage disease with myopathy: A 10-year follow-up case report

    Neutral lipid storage disease with myopathy: A 10-year follow-up case report by Sara Missaglia, Daniela Tavian, Corrado Angelini

    Published 2022-06-01
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  2. 2
    Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function

    Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function by Sara Missaglia, Rosalind A. Coleman, Alvaro Mordente, Daniela Tavian

    Published 2019-02-01
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  3. 3
    Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

    Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome by Daniela Tavian, Murat Durdu, Corrado Angelini, Enza Torre, Sara Missaglia

    Published 2021-05-01
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  4. 4
    Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients

    Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients by Sara Missaglia, Valentina Pegoraro, Roberta Marozzo, Daniela Tavian, Corrado Angelini

    Published 2020-03-01
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  5. 5
    A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

    A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings by Ali Haydar Eskiocak, Sara Missaglia, Laura Moro, Murat Durdu, Daniela Tavian

    Published 2019-12-01
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  6. 6
    A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

    A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy by Daniela Tavian, Lorenzo Maggi, Marina Mora, Lucia Morandi, Cinzia Bragato, Sara Missaglia

    Published 2021-01-01
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  7. 7
    Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations

    Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations by Sara Missaglia, Daniela Tavian, Sandro Michelini, Paolo Enrico Maltese, Andrea Bonanomi, Matteo Bertelli

    Published 2021-04-01
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  8. 8
    <i>FOXC2</i> Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

    <i>FOXC2</i> Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation by Daniela Tavian, Sara Missaglia, Sandro Michelini, Paolo Enrico Maltese, Elena Manara, Alvaro Mordente, Matteo Bertelli

    Published 2020-07-01
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  9. 9
    Salivary and serum irisin in healthy adults before and after exercise

    Salivary and serum irisin in healthy adults before and after exercise by Sara Missaglia, Ester Tommasini, Paola Vago, Claudio Pecci, Christel Galvani, Andrea Silvestrini, Alvaro Mordente, Daniela Tavian

    Published 2023-01-01
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  10. 10
    Corrigendum: CDKN2A determines mesothelioma cell fate to EZH2 inhibition

    Corrigendum: CDKN2A determines mesothelioma cell fate to EZH2 inhibition by Giulia Pinton, Zhuo Wang, Cecilia Balzano, Sara Missaglia, Daniela Tavian, Renzo Boldorini, Dean A. Fennell, Martin Griffin, Laura Moro

    Published 2022-11-01
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  11. 11
    CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition

    CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition by Giulia Pinton, Zhuo Wang, Cecilia Balzano, Sara Missaglia, Daniela Tavian, Renzo Boldorini, Dean A. Fennell, Martin Griffin, Laura Moro

    Published 2021-07-01
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  12. 12
    Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients

    Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients by Nelida Inés Noguera, Daniela Tavian, Corrado Angelini, Francesca Cortese, Massimiliano Filosto, Matteo Garibaldi, Sara Missaglia, Ariela Smigliani, Alessandra Zaza, Elena Maria Pennisi

    Published 2023-03-01
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  13. 13
    A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype

    A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype by Solaf Mohamed Elsayed, Enza Torre, Daniela Tavian, Laura Moro, Corrado Angelini, Tawhida Y. Abdel Ghaffar, Khalid Zalata, Enas Ezzeldein Fahmy, Sara Missaglia

    Published 2023-05-01
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