Concepedia

Marianna Paulis

MP

Statistics

Publications

20

Citations

786

H-Index

16

Active since

2005

Affiliations

Humanitas University(Current)

Institute of Genetic and Biomedical Research

Istituti di Ricovero e Cura a Carattere Scientifico

The San Raffaele Telethon Institute for Gene Therapy

National Research Council

Marianna Paulis is an author at Humanitas University specializing in life sciences, genetics, and cell biology.

ORCID

Publications per year

2005–2024

20

Publications

20

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 · 114 citations · Full text

, , +17

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Ekaterina Revenkova, Maria Luisa Focarelli, Marianna Paulis et al. · Human Molecular Genetics · 2008 · 107 citations · Full text

, , +17

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

, , +17

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 · 84 citations · Full text

, , +15

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 · 55 citations · Full text

, , +14

1–5 of 20