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Research Interests

Papers共 381 篇Author StatisticsCo-AuthorSimilar Experts

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Vision on gyrate atrophy: why treat the liver
Iolanda Boffa,Nicola Brunetti-Pierri
EMBO Molecular Medicineno. 1 (2024): 8-9
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Liver gene transfer for metabolite detoxification in inherited metabolic diseases
Alfonso M D'Alessio, Iolanda Boffa, Lucia De Stefano, Leandro R Soria,Nicola Brunetti-Pierri
FEBS letters (2024)
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Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova,Diana Carli, Alfredo Brusco,Michael A Levy, Raissa Relator,Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy Skinner,
American journal of medical genetics. Part C, Seminars in medical geneticspp.e32089-e32089, (2024)
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Liver-directed gene therapy for inherited metabolic diseases
Julien Baruteau,Nicola Brunetti-Pierri, Paul Gissen
JOURNAL OF INHERITED METABOLIC DISEASEno. 1 (2024): 9-21
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Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism
Michele Dei Cas, Linda Montavoci, Claudia Pasini,Anna Caretti, Sara Penati, Carla Martinelli, Umberto Gianelli, Sara Casati, Francesca Nardecchia, Annalaura Torella,Nicola Brunetti-Pierri, Marco Trinchera
Journal of Lipid Researchno. 3 (2024)
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