Concepedia
Statistics
Publications
19
Citations
752
H-Index
16
Active since
2005
Affiliations
Humanitas University(Current)
Institute of Genetic and Biomedical Research
Istituti di Ricovero e Cura a Carattere Scientifico
National Research Council
The San Raffaele Telethon Institute for Gene Therapy
Marianna Paulis is an author at Humanitas University specializing in medicine, cell biology, and molecular genetics.
Top concepts
MedicineCell BiologyGeneticsMolecular GeneticsGenomicsImmunologyMolecular BiologyHealthBiologyChromatin
Publications per year
2005–2024
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
Nicolò Salvarani, Silvia Crasto, Michele Miragoli et al. · Nature Communications · 2019 · 109 citations · Full text
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
Ekaterina Revenkova, Maria Luisa Focarelli, S. P. Lucia et al. · Human Molecular Genetics · 2008 · 107 citations · Full text
Chromatin, Genome Instability, Mendelian Disorder +15
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy
Vasco Meneghini, Giacomo Frati, Davide Sala et al. · Stem Cells Translational Medicine · 2016 · 84 citations · Full text
Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons
Pietro Giuseppe Mazzara, Sharon Muggeo, Mirko Luoni et al. · Nature Communications · 2020 · 77 citations · Full text
Osteopetrosis rescue upon RANKL administration to <i>Rankl</i>−<i>/</i>− mice: A new therapy for human RANKL-dependent ARO
Nadia Lo Iacono, Harry C. Blair, Pietro Luigi Poliani et al. · Journal of Bone and Mineral Research · 2012 · 54 citations · Full text
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