Get started
Author

Marianna Paulis

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
2019 · Nicolò Salvarani, Silvia Crasto, et al. · Nature Communications · 113
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
2008 · Ekaterina Revenkova, Maria Luisa Focarelli, et al. · Human Molecular Genetics · 107
PDF
Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons
2020 · Pietro Giuseppe Mazzara, Sharon Muggeo, et al. · Nature Communications · 89
PDF
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy
2016 · Vasco Meneghini, Giacomo Frati, et al. · Stem Cells Translational Medicine · 78
PDF
Osteopetrosis rescue upon RANKL administration to Rankl−/− mice: A new therapy for human RANKL-dependent ARO
2012 · Nadia Lo Iacono, Harry C Blair, et al. · Journal of Bone and Mineral Research · 55
PDF
Dysfunctional Extracellular Matrix Remodeling Supports Perianal Fistulizing Crohn′s Disease by a Mechanoregulated Activation of the Epithelial-to-Mesenchymal Transition
2022 · Giulia Rizzo, Federica Rubbino, et al. · Cellular and Molecular Gastroenterology and Hepatology · 41
PDF
Claspin inhibition leads to fragile site expression
2009 · Maria Luisa Focarelli, Samuela Soza, et al. · Genes Chromosomes and Cancer · 41
Motor neuron degeneration, severe myopathy and TDP-43 increase in a transgenic pig model of SOD1-linked familiar ALS
2018 · Paola Crociara, Maria Novella Chieppa, et al. · Neurobiology of Disease · 29
PDF
Hematopoietic Cells from Pluripotent Stem Cells: Hope and Promise for the Treatment of Inherited Blood Disorders
2022 · Ilaria Rao, Laura Crisafulli, et al. · Cells · 27
PDF
Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes
2021 · Elisabeth Mangiameli, Anna Cecchele, et al. · Stem Cell Reports · 27
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency
2024 · Maria Carmina Castiello, Chiara Brandas, et al. · Science Translational Medicine · 24
PDF
Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts
2015 · Tui Neri, Sharon Muggeo, et al. · Stem Cell Reports · 24
PDF
A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells
2015 · Marianna Paulis, Alessandra Castelli, et al. · Scientific Reports · 24
PDF
Where Are We with RPE Replacement Therapy? A Translational Review from the Ophthalmologist Perspective
2022 · Raffaele Raimondi, Piero Zollet, et al. · International Journal of Molecular Sciences · 23
PDF
Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications
2012 · Veronica Marrella, Pietro L. Poliani, et al. · Blood · 22
PDF
Fusion between cancer cells and macrophages occurs in a murine model of spontaneous neu+ breast cancer without increasing its metastatic potential
2016 · Michela Lizier, Achille Anselmo, et al. · Oncotarget · 21
PDF
Cloning of the bovine prion-like Shadoo (SPRN) gene by comparative analysis of the predicted genomic locus
2006 · Cristina Uboldi, Marianna Paulis, et al. · Mammalian Genome · 20
Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders
2020 · Marianna Paulis, Lucia Susani, et al. · Molecular Therapy — Methods & Clinical Development · 19
PDF
Prion-like Doppel gene (PRND) in the goat: genomic structure, cDNA, and polymorphisms
2005 · Cristina Uboldi, Igor Del Vecchio, et al. · Mammalian Genome · 19
Transfer of a Human Chromosomal Vector from a Hamster Cell Line to a Mouse Embryonic Stem Cell Line
2007 · Marianna Paulis, Mirella Bensi, et al. · Stem Cells · 17
Autofluorescence properties of murine embryonic stem cells during spontaneous differentiation phases
2013 · Giada Santin, Marianna Paulis, et al. · Lasers in Surgery and Medicine · 16
Chromosome transplantation as a novel approach for correcting complex genomic disorders
2015 · Marianna Paulis, Alessandra Castelli, et al. · Oncotarget · 14
PDF
Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4+ T‐cells for the treatment of Hyper IgM1
2023 · Daniele Canarutto, Claudia Asperti, et al. · The EMBO Journal · 9
PDF
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells
2019 · Alessandra Castelli, Lucia Susani, et al. · Stem Cells · 8
PDF
Chromosome Transfer Via Cell Fusion
2011 · Marianna Paulis · Methods in molecular biology · 8
Works count: 51
Citation count: 903
H-index: 19
I10-index: 22
Year
Topic
Type