Marianna Paulis
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Explore the profile of Marianna Paulis including associated specialties, affiliations and a list of published articles.
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30
Citations
411
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Recent Articles
1.
Paulis M, Garbarino O, Faggioli F
Methods Mol Biol
. 2025 Mar;
2906:137-147.
PMID: 40082354
FISH (fluorescence in situ hybridization) is one of the most reliable cytogenetic techniques for detecting changes in DNA integrity, including copy number gains and losses as well as telomeric erosion....
2.
La Grua A, Rao I, Susani L, Lucchini F, Raimondi E, Vezzoni P, et al.
Cells
. 2024 Apr;
13(8.
PMID: 38667281
There are thousands of rare genetic diseases that could be treated with classical gene therapy strategies such as the addition of the defective gene via viral or non-viral delivery or...
3.
Castiello M, Brandas C, Ferrari S, Porcellini S, Sacchetti N, Canarutto D, et al.
Sci Transl Med
. 2024 Feb;
16(733):eadh8162.
PMID: 38324638
Recombination activating genes () are tightly regulated during lymphoid differentiation, and their mutations cause a spectrum of severe immunological disorders. Hematopoietic stem and progenitor cell (HSPC) transplantation is the treatment...
4.
Canarutto D, Asperti C, Vavassori V, Porcellini S, Rovelli E, Paulis M, et al.
EMBO J
. 2023 Nov;
42(23):e114188.
PMID: 37916874
Hyper IgM1 is an X-linked combined immunodeficiency caused by CD40LG mutations, potentially treatable with CD4 T-cell gene editing with Cas9 and a "one-size-fits-most" corrective template. Contrary to established gene therapies,...
5.
Rizzo G, Rubbino F, Elangovan S, Sammarco G, Lovisa S, Restelli S, et al.
Cell Mol Gastroenterol Hepatol
. 2022 Dec;
15(3):741-764.
PMID: 36521659
Background And Aims: Perianal fistula represents one of the most disabling manifestations of Crohn's disease (CD) due to complete destruction of the affected mucosa, which is replaced by granulation tissue...
6.
Rao I, Crisafulli L, Paulis M, Ficara F
Cells
. 2022 Feb;
11(3).
PMID: 35159366
Inherited blood disorders comprise a large spectrum of diseases due to germline mutations in genes with key function in the hematopoietic system; they include immunodeficiencies, anemia or metabolic diseases. For...
7.
Raimondi R, Zollet P, De Rosa F, Tsoutsanis P, Stravalaci M, Paulis M, et al.
Int J Mol Sci
. 2022 Jan;
23(2).
PMID: 35054869
The retinal pigmented epithelium (RPE) plays a pivotal role in retinal homeostasis. It is therefore an interesting target to fill the unmet medical need of different retinal diseases, including age-related...
8.
Lavra L, Magi F, Ulivieri A, Morgante A, Paulis M, Sala L, et al.
Stem Cell Res
. 2021 Jun;
54:102418.
PMID: 34130155
In this study we describe the generation and characterization of an human induced pluripotent stem cell (hiPSC) line from a long QT syndrome type 1 (LQT1) patient carrying the KCNQ1...
9.
Mangiameli E, Cecchele A, Morena F, Sanvito F, Matafora V, Cattaneo A, et al.
Stem Cell Reports
. 2021 May;
16(6):1478-1495.
PMID: 33989519
Globoid cell leukodystrophy (GLD) is a rare neurodegenerative lysosomal storage disease caused by an inherited deficiency of β-galactocerebrosidase (GALC). GLD pathogenesis and therapeutic correction have been poorly studied in patient...
10.
Mazzara P, Muggeo S, Luoni M, Massimino L, Zaghi M, Valverde P, et al.
Nat Commun
. 2020 Aug;
11(1):4178.
PMID: 32826895
Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenerative and cardiac disorder which occurs when transcription of the FXN gene is silenced due to an excessive expansion of GAA repeats into its...