Sfoglia per Autore
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET
2013-01-01 Cecilia Mancini; Laura Orsi; Simona Cavalieri; Eleonora Di Gregorio; Elisa Giorgio; Alessandro Calcia; Daniela Lacerenza; Elisa Pozzi; Thomas Langer; Quasar Saleem Padiath; Alfredo Brusco
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)
2013-01-01 Simona Cavalieri;Elisa Pozzi;Richard A Gatti;Alfredo Brusco
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH
2014-01-01 Elisa Savin1; Eleonora Di Gregorio 1;2; Franco Fiocchi 1; Valeria Giorgia Naretto 1; Elisa Biamino 3; Elga Belligni 3; Cecilia Mancini 2; Simona Cavalieri2; Elisa Pozzi2; Elisa Giorgio 2; Eva Colombo 1; Flavia Talarico 1; Patrizia Pappi 1; Enrico Grosso 1; Margherita Cirillo Silengo 3; Giovanni Battista Ferrero 3; Alfredo Brusco 1
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY
2014-01-01 Giovanna Vaula1; Elisa Giorgio2; Giovanni Bosco1; Martina Conterno1; Davide Quartana1; Alessandro Calcia2; Cecilia Mancini2; Eleonora Di Gregorio3; Simona Cavalieri2; Elisa Pozzi2; Alessandro Brussino2; Alfredo Brusco2.
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA
2014-01-01 C. Mancini1; S. Nassani2; Y. Guo3; E. Giorgio1; A. Calcia1; X. Liu4; E. Di Gregorio5; S. Cavalieri5; E. Pozzi1; A. Brussino1; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4;7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3;9;10; A. Brusco1
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION
2014-01-01 Elisa Giorgio1; Livio Favaro 2; Nicola Lo Buono1; Cecilia Mancini1; Giovanna Vaula 3; Pietro Cortelli 4; Sabina Capellari 4 ;Paola Mandich 5; Niklas Dahl 6; Atle Melberg 7; Elisa Pozzi1; Eleonora Di Gregorio8; Simona Cavalieri8; Pierre Labauge 9; Eleonore Eymard Pierre 9; Harshvardhan Rolyan 10; Odile Boespflug-Tanguy 9;11-13; Laura Gasparini 14; Quasar Saleem Padiath 10; Alessandro Brussino 1; Alfredo Brusco 1;8
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia
2015-01-01 Squadrone, Stefania; Brizio, Paola; Mancini, Cecilia; Pozzi, Elisa; Cavalieri, Simona; Abete, Maria Cesarina; Brusco, Alfredo
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
2015-01-01 Mancini, Cecilia; Orsi, Laura; Guo, Yiran; Li, Jiankang; Chen, Yulan; Wang, Fengxiang; Tian, Lifeng; Liu, Xuanzhu; Zhang, Jianguo; Jiang, Hui; Nmezi, Bruce Shike; Tatsuta, Takashi; Giorgio, Elisa; Di Gregorio, Eleonora; Cavalieri, Simona; Pozzi, Elisa; Mortara, Paolo; Caglio, Marcella Maria; Balducci, Alessandro; Pinessi, Lorenzo; Langer, Thomas; Padiath, Quasar S.; Hakonarson, Hakon; Zhang, Xiuqing; Brusco, Alfredo
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia
2016-01-01 Costantini, Antonio; Laureti, Tiziana; Pala, Maria Immacolata; Colangeli, Marco; Cavalieri, Simona; Pozzi, Elisa; Brusco, Alfredo; Salvarani, Sandro; Serrati, Carlo; Fancellu, Roberto
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
2017-01-01 Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
2017-01-01 Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; LO BUONO, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; DI GREGORIO, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo
SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis
2018-01-01 Cagnoli, Claudia; Brussino, Alessandro; Mancini, Cecilia; Ferrone, Marina; Orsi, Laura; Salmin, Paola; Pappi, Patrizia; Giorgio, Elisa; Pozzi, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Filla, Alessandro; De Michele, Giuseppe; Gellera, Cinzia; Mariotti, Caterina; Nethisinghe, Suran; Giunti, Paola; Stevanin, Giovanni; Brusco, Alfredo
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
2019-01-01 Mancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Gondor Morosini, Diana Iulia; Nicolò, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy
2019-01-01 Mancini, Cecilia; Giorgio, Elisa; Rubegni, Anna; Pradotto, Luca; Bagnoli, Silvia; Rubino, Elisa; Prontera, Paolo; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Pozzi, Elisa; Riberi, Evelise; Ferrero, Patrizia; Nigro, Pasquale; Mauro, Alessandro; Zibetti, Maurizio; Tessa, Alessandra; Barghigiani, Melissa; Antenora, Antonella; Sirchia, Fabio; Piacentini, Silvia; Silvestri, Gabriella; De Michele, Giuseppe; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo Maria; Brusco, Alfredo
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance
2020-01-01 Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
2020-01-01 Pozzi E.; Giorgio E.; Mancini C.; Lo Buono N.; Augeri S.; Ferrero M.; Di Gregorio E.; Riberi E.; Vinciguerra M.; Nanetti L.; Bianchi F.T.; Sassi M.P.; Costanzo V.; Mariotti C.; Funaro A.; Cavalieri S.; Brusco A.
A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)
2021-01-01 Giorgio, Elisa; Pesce, Emanuela; Pozzi, Elisa; Sondo, Elvira; Ferrero, Marta; Morerio, Cristina; Borrelli, Giusy; Della Sala, Edoardo; Lorenzati, Martina; Cortelli, Pietro; Buffo, Annalisa; Pedemonte, Nicoletta; Brusco, Alfredo
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study
2022-01-01 Rubino E.; Boschi S.; Giorgio E.; Pozzi E.; Marcinno' A.; Gallo E.; Roveta F.; Grassini A.; Brusco A.; Rainero I.
Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
2023-01-01 Ferrero, Enza; Di Gregorio, Eleonora; Ferrero, Marta; Ortolan, Erika; Moon, Young-Ah; Di Campli, Antonella; Pavinato, Lisa; Mancini, Cecilia; Tripathy, Debasmita; Manes, Marta; Hoxha, Eriola; Costanzi, Chiara; Pozzi, Elisa; Rossi Sebastiano, Matteo; Mitro, Nico; Tempia, Filippo; Caruso, Donatella; Borroni, Barbara; Basso, Manuela; Sallese, Michele; Brusco, Alfredo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET | 2013 | Cecilia Mancini; Laura Orsi; Simona Cavalieri; Eleonora Di Gregorio; Elisa Giorgio; Alessandro Calcia; Daniela Lacerenza; Elisa Pozzi; Thomas Langer; Quasar Saleem Padiath; Alfredo Brusco | |
| Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) | 2013 | Simona Cavalieri;Elisa Pozzi;Richard A Gatti;Alfredo Brusco | |
| LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH | 2014 | Elisa Savin1; Eleonora Di Gregorio 1;2; Franco Fiocchi 1; Valeria Giorgia Naretto 1; Elisa Biamino 3; Elga Belligni 3; Cecilia Mancini 2; Simona Cavalieri2; Elisa Pozzi2; Elisa Giorgio 2; Eva Colombo 1; Flavia Talarico 1; Patrizia Pappi 1; Enrico Grosso 1; Margherita Cirillo Silengo 3; Giovanni Battista Ferrero 3; Alfredo Brusco 1 | |
| TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY | 2014 | Giovanna Vaula1; Elisa Giorgio2; Giovanni Bosco1; Martina Conterno1; Davide Quartana1; Alessandro Calcia2; Cecilia Mancini2; Eleonora Di Gregorio3; Simona Cavalieri2; Elisa Pozzi2; Alessandro Brussino2; Alfredo Brusco2. | |
| EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA | 2014 | C. Mancini1; S. Nassani2; Y. Guo3; E. Giorgio1; A. Calcia1; X. Liu4; E. Di Gregorio5; S. Cavalieri5; E. Pozzi1; A. Brussino1; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4;7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3;9;10; A. Brusco1 | |
| LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION | 2014 | Elisa Giorgio1; Livio Favaro 2; Nicola Lo Buono1; Cecilia Mancini1; Giovanna Vaula 3; Pietro Cortelli 4; Sabina Capellari 4 ;Paola Mandich 5; Niklas Dahl 6; Atle Melberg 7; Elisa Pozzi1; Eleonora Di Gregorio8; Simona Cavalieri8; Pierre Labauge 9; Eleonore Eymard Pierre 9; Harshvardhan Rolyan 10; Odile Boespflug-Tanguy 9;11-13; Laura Gasparini 14; Quasar Saleem Padiath 10; Alessandro Brussino 1; Alfredo Brusco 1;8 | |
| Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia | 2015 | Squadrone, Stefania; Brizio, Paola; Mancini, Cecilia; Pozzi, Elisa; Cavalieri, Simona; Abete, Maria Cesarina; Brusco, Alfredo | |
| An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 | 2015 | Mancini, Cecilia; Orsi, Laura; Guo, Yiran; Li, Jiankang; Chen, Yulan; Wang, Fengxiang; Tian, Lifeng; Liu, Xuanzhu; Zhang, Jianguo; Jiang, Hui; Nmezi, Bruce Shike; Tatsuta, Takashi; Giorgio, Elisa; Di Gregorio, Eleonora; Cavalieri, Simona; Pozzi, Elisa; Mortara, Paolo; Caglio, Marcella Maria; Balducci, Alessandro; Pinessi, Lorenzo; Langer, Thomas; Padiath, Quasar S.; Hakonarson, Hakon; Zhang, Xiuqing; Brusco, Alfredo | |
| Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia | 2016 | Costantini, Antonio; Laureti, Tiziana; Pala, Maria Immacolata; Colangeli, Marco; Cavalieri, Simona; Pozzi, Elisa; Brusco, Alfredo; Salvarani, Sandro; Serrati, Carlo; Fancellu, Roberto | |
| Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes | 2017 | Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
| A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) | 2017 | Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; LO BUONO, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; DI GREGORIO, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo | |
| SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis | 2018 | Cagnoli, Claudia; Brussino, Alessandro; Mancini, Cecilia; Ferrone, Marina; Orsi, Laura; Salmin, Paola; Pappi, Patrizia; Giorgio, Elisa; Pozzi, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Filla, Alessandro; De Michele, Giuseppe; Gellera, Cinzia; Mariotti, Caterina; Nethisinghe, Suran; Giunti, Paola; Stevanin, Giovanni; Brusco, Alfredo | |
| Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity | 2019 | Mancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Gondor Morosini, Diana Iulia; Nicolò, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo | |
| Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy | 2019 | Mancini, Cecilia; Giorgio, Elisa; Rubegni, Anna; Pradotto, Luca; Bagnoli, Silvia; Rubino, Elisa; Prontera, Paolo; Cavalieri, Simona; Di Gregorio, Eleonora; Ferrero, Marta; Pozzi, Elisa; Riberi, Evelise; Ferrero, Patrizia; Nigro, Pasquale; Mauro, Alessandro; Zibetti, Maurizio; Tessa, Alessandra; Barghigiani, Melissa; Antenora, Antonella; Sirchia, Fabio; Piacentini, Silvia; Silvestri, Gabriella; De Michele, Giuseppe; Filla, Alessandro; Orsi, Laura; Santorelli, Filippo Maria; Brusco, Alfredo | |
| Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance | 2020 | Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A | |
| In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients | 2020 | Pozzi E.; Giorgio E.; Mancini C.; Lo Buono N.; Augeri S.; Ferrero M.; Di Gregorio E.; Riberi E.; Vinciguerra M.; Nanetti L.; Bianchi F.T.; Sassi M.P.; Costanzo V.; Mariotti C.; Funaro A.; Cavalieri S.; Brusco A. | |
| A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD) | 2021 | Giorgio, Elisa; Pesce, Emanuela; Pozzi, Elisa; Sondo, Elvira; Ferrero, Marta; Morerio, Cristina; Borrelli, Giusy; Della Sala, Edoardo; Lorenzati, Martina; Cortelli, Pietro; Buffo, Annalisa; Pedemonte, Nicoletta; Brusco, Alfredo | |
| Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study | 2022 | Rubino E.; Boschi S.; Giorgio E.; Pozzi E.; Marcinno' A.; Gallo E.; Roveta F.; Grassini A.; Brusco A.; Rainero I. | |
| Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot | 2023 | Ferrero, Enza; Di Gregorio, Eleonora; Ferrero, Marta; Ortolan, Erika; Moon, Young-Ah; Di Campli, Antonella; Pavinato, Lisa; Mancini, Cecilia; Tripathy, Debasmita; Manes, Marta; Hoxha, Eriola; Costanzi, Chiara; Pozzi, Elisa; Rossi Sebastiano, Matteo; Mitro, Nico; Tempia, Filippo; Caruso, Donatella; Borroni, Barbara; Basso, Manuela; Sallese, Michele; Brusco, Alfredo |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile