CNR Institutional Research Information System

SABATELLI, PATRIZIA ANNA

SABATELLI, PATRIZIA ANNA  

Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"  

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Risultati 1 - 20 di 115 (tempo di esecuzione: 0.058 secondi).
Titolo Data di pubblicazione Autore(i) File
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype 1-gen-2023 Starace, M; Pampaloni, F; Bruni, F; Quadrelli, F; Cedirian, S; Baraldi, C; Misciali, C; Di Martino, A; Sabatelli, P; Merlini, L; Piraccini, Bm
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant 1-gen-2023 Cardone, N; Moula, M; Baelde, Rj; Biquand, A; Villanova, M; Metay, C; Fiorillo, C; Baratto, S; Merlini, L; Sabatelli, P; Romero, Nb; Relaix, F; Authier, Fj; Taglietti, V; Savarese, M; de Winter, J; Ottenheijm, C; Richard, I; Malfatti, E
Collagen VI in the Musculoskeletal System 1-gen-2023 Di Martino, A; Cescon, M; D'Agostino, C; Schilardi, F; Sabatelli, P; Merlini, L; Faldini, C
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients 1-gen-2023 Merlini, L; Sabatelli, P; Gualandi, F; Redivo, E; Di Martino, A; Faldini, C
Sustained oral spermidine supplementation rescues functional and structural defects in COL6-deficient myopathic mice 1-gen-2023 Gambarotto, L; Metti, S; Corpetti, M; Baraldo, M; Sabatelli, P; Castagnaro, S; Cescon, M; Blaauw, B; Bonaldo, P
3D ECM-rich environment sustains the identity of naive human iPSCs 1-gen-2022 Cesare, E; Urciuolo, A; Stuart, Ht; Torchio, E; Gesualdo, A; Laterza, C; Gagliano, O; Martewicz, S; Cui, M; Manfredi, A; Di Filippo, L; Sabatelli, P; Squarzoni, S; Zorzan, I; Betto, Rm; Martello, G; Cacchiarelli, D; Luni, C; Elvassore, N
Ambra1 deficiency impairs mitophagy in skeletal muscle 1-gen-2022 Gambarotto, L; Metti, S; Chrisam, M; Cerqua, C; Sabatelli, P; Armani, A; Zanon, C; Spizzotin, M; Castagnaro, S; Strappazzon, F; Grumati, P; Cescon, M; Braghetta, P; Trevisson, E; Cecconi, F; Bonaldo, P
Collagen VI ablation in zebrafish causes neuromuscular defects during developmental and adult stages 1-gen-2022 Tonelotto V; Consorti C; Facchinello N; Trapani V; Sabatelli P; Giraudo C; Spizzotin M; Cescon M; Bertolucci C; Bonaldo P
Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy 1-gen-2022 Sabatelli P; Merlini L; Di Martino A; Cenni V; Faldini C
Interleukin-6 neutralization ameliorates symptoms in prematurely aged mice 1-gen-2021 Squarzoni S; Schena E; Sabatelli P; Mattioli E; Capanni C; Cenni V; D'Apice MR; Andrenacci D; Sarli G; Pellegrino V; Festa A; Baruffaldi F; Storci G; Bonafè M; Barboni C; Sanapo M; Zaghini A; Lattanzi G.
Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein. 1-gen-2021 Cassandrini, D; Merlini, L; Pilla, F; Cenni, V; Santi, S; Faldini, C; Santorelli, Fm; Sabatelli, P
Treatment with a triazole inhibitor of the mitochondrial permeability transition pore fully corrects the pathology of sapje zebrafish lacking dystrophin 1-gen-2021 Stocco A; Smolina N; Sabatelli P; Sileikyte' J; Artusi E; Mouly V; Cohen M; Forte M; Schiavone M; Bernardi P.
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases 1-gen-2021 Falzarano, Ms; Rossi, R; Grilli, A; Fang, M; Osman, H; Sabatelli, P; Antoniel, M; Lu, Z; Li, W; Selvatici, R; Alkhalili, C; Gualandi, F; Bicciato, S; Torelli, S; Ferlini, A
Multimerin-2 maintains vascular stability and permeability 1-gen-2020 Pellicani, R; Poletto, E; Andreuzzi, E; Paulitti, A; Doliana, R; Bizzotto, D; Braghetta, P; Colladel, R; Tarticchio, G; Sabatelli, P; Bucciotti, F; Bressan, G; Iozzo, Rv; Colombatti, A; Bonaldo, P; Mongiat, M
Serum- and glucocorticoid- inducible kinase 2, SGK2, is a novel autophagy regulator and modulates platinum drugs response in cancer cells 1-gen-2020 Ranzuglia, V; Lorenzon, I; Pellarin, I; Sonego, M; Dall'Acqua, A; D'Andrea, S; Lovisa, S; Segatto, I; Coan, M; Polesel, J; Serraino, D; Sabatelli, P; Spessotto, P; Belletti, B; Baldassarre, G; Schiappacassi, M
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. 1-gen-2020 Antoniel M; Traina F; Merlini L; Andrenacci D; Tigani D; Santi S; Cenni V; Sabatelli P; Faldini C; Squarzoni S.
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy 1-gen-2020 Passarelli C; Selvatici R; Carrieri A; Di Raimo FR; Falzarano MS; Fortunato F; Rossi R; Straub V; Bushby K; Reza M; Zharaieva I; D'Amico A; Bertini E; Merlini L; Sabatelli P; Borgiani P; Novelli G; Messina S; Pane M; Mercuri E; Claustres M; TufferyGiraud S; AartsmaRus A; Spitali P; T'Hoen PAC; Lochmuller H; Strandberg K; AlKhalili C; Kotelnikova E; Lebowitz M; Schwartz E; Muntoni F; Scapoli C; Ferlini A.
A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation 1-gen-2019 Calore M; Lorenzon A; Vitiello L; Poloni G; Khan MAF; Beffagna G; Dazzo E; Sacchetto C; Polishchuk R; Sabatelli P; Doliana R; Carnevale D; Lembo G; Bonaldo P; De Windt L; Braghetta P; Rampazzo A.
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation 1-gen-2019 Merlini, L; Sabatelli, P; Antoniel, M; Carinci, V; Niro, F; Monetti, G; Torella, A; Giugliano, T; Faldini, C; Nigro, V
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 1-gen-2019 Bigoni, S; Neri, M; Scotton, C; Farina, R; Sabatelli, P; Jiang, C; Zhang, J; Falzarano, Ms; Rossi, R; Ognibene, D; Selvatici, R; Gualandi, F; Bosshardt, D; Perri, P; Campa, C; Brancati, F; Salvatore, M; De Stefano, Mc; Taruscio, D; Trombelli, L; Fang, M; Ferlini, A