Showing 1 - 7 results of 7 for search 'Marco Tartaglia', query time: 0.08s Refine Results
  1. 1
    Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

    Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency by Fiorella Colasuonno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno

    Published 2020
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  2. 2
    Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor

    Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor by Giulia Fasano, Stefania Petrini, Valeria Bonavolontà, Graziamaria Paradisi, Catia Pedalino, Marco Tartaglia, Antonella Lauri

    Published 2024
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  3. 3
    Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency

    Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency by Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci

    Published 2021
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  4. 4
    Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases

    Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases by May El Hachem, Sabina Barresi, Andrea Diociaiuti, Renata Boldrini, Angelo Giuseppe Condorelli, Ettore Capoluongo, Vittoria Proto, Giulietta Scuvera, Cristina Has, Marco Tartaglia, Daniele Castiglia

    Published 2018
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  5. 5
    Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

    Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment by Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Silvio Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani

    Published 2023
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  6. 6
    Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

    Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review by Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia

    Published 2020
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  7. 7
    A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

    A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing by Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli

    Published 2017
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