SABATELLI, PATRIZIA ANNA
SABATELLI, PATRIZIA ANNA
Istituto di Genetica Molecolare "Luigi Luca Cavalli Sforza"
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
2003 Muntoni, F; Valero de Bernabe, B; Bittner, R; Blake, D; van Bokhoven, H; Brockington, M; Brown, S; Bushby, K; Campbell, Kp; Fiszman, M; Gruenewald, S; Merlini, L; Quijanoroy, S; Romero, N; Sabatelli, P; Sewry, Ca; Straub, V; Talim, B; Topaloglu, H; Voit, T; Et, All
3D ECM-rich environment sustains the identity of naive human iPSCs
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
A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation
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.
Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene
2014 Sabatelli P; Castagnaro S; Tagliavini F; Chrisam M; Sardone F; Demay L; Richard P; Santi S; Maraldi NM; Merlini L; Sandri M; Bonaldo P.
Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy
2017 Schiavone M.; Zulian A.; Menazza S.; Petronilli V.; Argenton F.; Merlini L.; Sabatelli P.; Bernardi P.
Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
2023 Starace, M; Pampaloni, F; Bruni, F; Quadrelli, F; Cedirian, S; Baraldi, C; Misciali, C; Di Martino, A; Sabatelli, P; Merlini, L; Piraccini, Bm
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy,
2005 I. FILESI; F. GULLOTTA; G. LATTANZI; M.R. D'APICE; C. CAPANNI; A.M. NARDONE; M. COLUMBARO; G. SCARANO; E. MATTIOLI; P. SABATELLI; N.M. MARALDI; S. BIOCCA; G. NOVELLI;
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency,
2005 S. PETRINI; A. TESSA; W.B. STALLCUP; P. SABATELLI; M. PESCATORI; B. GIUSTI; R. CARROZZO; M. VERARDO; N. BERGAMIN; M. COLUMBARO; C. BERNARDINI; L. MERLINI; G. PEPE; P. BONALDO; E. BERTINI;
Ambra1 deficiency impairs mitophagy in skeletal muscle
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
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy.
2012 Gualandi, F; Manzati, E; Sabatelli, P; Passarelli, C; Bovolenta, M; Pellegrini, C; Perrone, D; Squarzoni, S; Pegoraro, E; Bonaldo, P; Ferlini, A
At the nucleus of the problem: nuclear proteins and disease
2003 Maraldi NM; Lattanzi G; Squarzoni S; Sabatelli P; Marmiroli S; Ognibene A; Manzoli FA
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial
2016 Castagnaro S; Pellegrini C; Pellegrini M; Chrisam M; Sabatelli P; Toni S; Grumati P; Ripamonti C; Pratelli L; Maraldi NM; Cocchi D; Righi V; Faldini C; Sandri M; Bonaldo P; Merlini L.
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
2010 Grumati P; Coletto L; Sabatelli P; Cescon M; Angelin A; Bertaggia E; Blaauw B; Urciuolo A; Tiepolo T; Merlini L; Maraldi NM; Bernardi P; Sandri M; Bonaldo P.
Autosomal recessive Bethlem myopathy.
2009 Gualandi, F; Urciuolo, A; Martoni, E; Sabatelli, P; Squarzoni, S; Bovolenta, M; Messina, S; Mercuri, E; Franchella, A; Ferlini, A; Bonaldo, P; Merlini, L
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
2008 Merlini, L; Martoni, E; Grumati, P; Sabatelli, P; Squarzoni, S; Urciuolo, A; Ferlini, A; Gualandi, F; Bonaldo, P
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice
2013 Falzarano Maria, Sofia; Passarelli, Chiara; Bassi, Elena; Fabris, Marina; Perrone, Daniela; Sabatelli, PATRIZIA ANNA; Maraldi Nadir, M; Dona, Silvia; Selvatici, Rita; Bonaldo, Paolo; Sparnacci, Katia; Laus, Michele; Braghetta, Paola; Rimessi, Paola; Ferlini, Alessandra
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.
2009 Rimessi P; Sabatelli P; Fabris M; Braghetta P; Bassi E; Spitali P; Vattemi G; Tomelleri G; Mari L; Perrone D; Medici A; Neri M; Bovolenta M; Martoni E; Maraldi NM; Gualandi F; Merlini L; Ballestri M; Tondelli L; Sparnacci K; Bonaldo P; Caputo A; et al.
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report
2013 Martoni E; Petrini S; Trabanelli C; Sabatelli P; Urciuolo A; Selvatici R; D'Amico A; Falzarano S; Bertini E; Bonaldo P; Ferlini A; Gualandi F.
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
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 ablation in zebrafish causes neuromuscular defects during developmental and adult stages
2022 Tonelotto V; Consorti C; Facchinello N; Trapani V; Sabatelli P; Giraudo C; Spizzotin M; Cescon M; Bertolucci C; Bonaldo P
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). | 1-gen-2003 | Muntoni, F; Valero de Bernabe, B; Bittner, R; Blake, D; van Bokhoven, H; Brockington, M; Brown, S; Bushby, K; Campbell, Kp; Fiszman, M; Gruenewald, S; Merlini, L; Quijanoroy, S; Romero, N; Sabatelli, P; Sewry, Ca; Straub, V; Talim, B; Topaloglu, H; Voit, T; Et, All | |
| 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 | |
| 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. | |
| Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene | 1-gen-2014 | Sabatelli P; Castagnaro S; Tagliavini F; Chrisam M; Sardone F; Demay L; Richard P; Santi S; Maraldi NM; Merlini L; Sandri M; Bonaldo P. | |
| Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy | 1-gen-2017 | Schiavone M.; Zulian A.; Menazza S.; Petronilli V.; Argenton F.; Merlini L.; Sabatelli P.; Bernardi P. | |
| 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 | |
| Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy, | 1-gen-2005 | I. FILESI; F. GULLOTTA; G. LATTANZI; M.R. D'APICE; C. CAPANNI; A.M. NARDONE; M. COLUMBARO; G. SCARANO; E. MATTIOLI; P. SABATELLI; N.M. MARALDI; S. BIOCCA; G. NOVELLI; | |
| Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency, | 1-gen-2005 | S. PETRINI; A. TESSA; W.B. STALLCUP; P. SABATELLI; M. PESCATORI; B. GIUSTI; R. CARROZZO; M. VERARDO; N. BERGAMIN; M. COLUMBARO; C. BERNARDINI; L. MERLINI; G. PEPE; P. BONALDO; E. BERTINI; | |
| 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 | |
| Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy. | 1-gen-2012 | Gualandi, F; Manzati, E; Sabatelli, P; Passarelli, C; Bovolenta, M; Pellegrini, C; Perrone, D; Squarzoni, S; Pegoraro, E; Bonaldo, P; Ferlini, A | |
| At the nucleus of the problem: nuclear proteins and disease | 1-gen-2003 | Maraldi NM; Lattanzi G; Squarzoni S; Sabatelli P; Marmiroli S; Ognibene A; Manzoli FA | |
| Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial | 1-gen-2016 | Castagnaro S; Pellegrini C; Pellegrini M; Chrisam M; Sabatelli P; Toni S; Grumati P; Ripamonti C; Pratelli L; Maraldi NM; Cocchi D; Righi V; Faldini C; Sandri M; Bonaldo P; Merlini L. | |
| Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration | 1-gen-2010 | Grumati P; Coletto L; Sabatelli P; Cescon M; Angelin A; Bertaggia E; Blaauw B; Urciuolo A; Tiepolo T; Merlini L; Maraldi NM; Bernardi P; Sandri M; Bonaldo P. | |
| Autosomal recessive Bethlem myopathy. | 1-gen-2009 | Gualandi, F; Urciuolo, A; Martoni, E; Sabatelli, P; Squarzoni, S; Bovolenta, M; Messina, S; Mercuri, E; Franchella, A; Ferlini, A; Bonaldo, P; Merlini, L | |
| Autosomal recessive myosclerosis myopathy is a collagen VI disorder. | 1-gen-2008 | Merlini, L; Martoni, E; Grumati, P; Sabatelli, P; Squarzoni, S; Urciuolo, A; Ferlini, A; Gualandi, F; Bonaldo, P | |
| Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice | 1-gen-2013 | Falzarano Maria, Sofia; Passarelli, Chiara; Bassi, Elena; Fabris, Marina; Perrone, Daniela; Sabatelli, PATRIZIA ANNA; Maraldi Nadir, M; Dona, Silvia; Selvatici, Rita; Bonaldo, Paolo; Sparnacci, Katia; Laus, Michele; Braghetta, Paola; Rimessi, Paola; Ferlini, Alessandra | |
| Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse. | 1-gen-2009 | Rimessi P; Sabatelli P; Fabris M; Braghetta P; Bassi E; Spitali P; Vattemi G; Tomelleri G; Mari L; Perrone D; Medici A; Neri M; Bovolenta M; Martoni E; Maraldi NM; Gualandi F; Merlini L; Ballestri M; Tondelli L; Sparnacci K; Bonaldo P; Caputo A; et al. | |
| Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: a case report | 1-gen-2013 | Martoni E; Petrini S; Trabanelli C; Sabatelli P; Urciuolo A; Selvatici R; D'Amico A; Falzarano S; Bertini E; Bonaldo P; Ferlini A; Gualandi F. | |
| 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 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 |