MANCINI, CECILIA
MANCINI, CECILIA
SCIENZE MEDICHE
A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients
2011-01-01 Mancini C; Roncaglia P; Lo Buono N; Brussino A; Cagnoli C; Maltecca F; Krmac H; Limongi T; Stevanin G; Forlani S; Casari G; Funaro A; Durr A; Migone N; Gustincich S; Brusco A
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM
2013-01-01 Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM
2013-01-01 Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco
A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM
2013-01-01 Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV.
2014-01-01 Elisa Giorgio1; Viviana Caputo2; Andrea Ciolfi3;4; Eleonora Di Gregorio5; Alessandro Calcia1; Cecilia Mancini1; Simona Cavalieri5; Elga Belligni6; Elisa Biamino6; Cristina Molinatto6; Margherita Cirillo6; Giovanni Battista Ferrero6; Marco Tartaglia3; Alfredo Brusco1
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
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
Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease
2011-01-01 Mancini C; Roncaglia P; Stevanin G; Durr A; Brussino A; Cagnoli C; Krmac H; Limongi T; Montarolo F; Hoxha E; Turco E; Messana E; Altruda F; Gustincich S; Tempia F; Brusco A
Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia
2009-01-01 Cagnoli C; Brussino A; Turco E; Mancini C; Altruda F; Brusco A
Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines.
2013-01-01 Mancini C; Roncaglia P; Brussino A; Stevanin G; Lo Buono N; Krmac H; Maltecca F; Gazzano E; Bartoletti Stella A.; Calvaruso M.A.; Iommarini L.; Cagnoli C.; Forlani S; Le Ber I; Durr A; Brice A; Ghigo D; Casari G; Porcelli AM; Funaro A; Gasparre G; Gustincich S; Brusco A
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
2013-01-01 MANCINI C.; Roncaglia P; Brussino A; Stevanin G; Lo Buono N; Krmac H; Maltecca F; Gazzano E; Bartoletti Stella A; Calvaruso MA; Iommarini L; Cagnoli C; Forlani S; Le Ber I; Durr A; Brice A; Ghigo D; Casari G; Porcelli AM; Funaro A; Gasparre G; Gustincich S; Brusco A.
Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28).
2012-01-01 MANCINI C.; Roncaglia P; Lo Buono N; Gazzano E; Bartoletti Stella A; Mariani E; Calvaruso M; Iommarini L; Brussino A; Cagnoli C.; Krmac H; Stevanin G; Forlani S; Funaro A; Durr A; Porcelli A; Ghigo D; Gasparre G; Gustincich S; Brusco A
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
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
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment.
2012-01-01 MANCINI C.; Vaula G; Scalzitti L; Cavalieri S; Bertini E; Aiello C; Lucchini C; Gatti R A; Brussino A; Brusco A.
One gene, two proteins: alternative splicing in human CD157/Bst1 unmasked
2017-01-01 Ferrero Enza, Lo Buono Nicola, Morone Simona, Parrotta Rossella, Giacomino Alice, Augeri Stefania, Mancini Cecilia, Rosal-Vela Antonio, Garcia-Rodriguez Sonia, Zubiaur Mercedes, Sancho Jaime, Ortolan Erika, Funaro Ada
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population
2014-01-01 A. Pelle; G. Mandrile; A. Cuccurullo; C. Mancini; R. Sebastiano; S. Varacalli; D. F. Giachino; M. De Marchi
Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets
2015-01-01 CECILIA Mancini; ERIOLA Hoxha; EMILIA Turco; FIORELLA Altruda; FILIPPO Tempia; ALFREDO Brusco.
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare 28.
2012-01-01 Mancini C.; Roncaglia P.; Lo Buono N.; Gazzano E.; Brussino A.; Cagnoli C.; Krmac H.; Stevanin G.; Forlani S.; Hoxha E.; Funaro A.; Durr A.; Tempia F.; Altruda F.; Turco E.; Ghigo D.; Gustincich S.; Brusco A.
Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare tipo 28.
2012-01-01 MANCINI C.; Roncaglia P; Lo Buono N; Gazzano E; Bartoletti Stella A; Mariani E; Calvaruso M; Iommarini L; Brussino A; Cagnoli C.; Krmac H; Stevanin G; Forlani S; Funaro A; Durr A; Porcelli A; Ghigo D; Gasparre G; Gustincich S; Brusco A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Genome-wide Expression profiling to unravel effect of missense mutations in SCA28 patients | 2011 | Mancini C; Roncaglia P; Lo Buono N; Brussino A; Cagnoli C; Maltecca F; Krmac H; Limongi T; Stevanin G; Forlani S; Casari G; Funaro A; Durr A; Migone N; Gustincich S; Brusco A | |
| A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND FATTY ACID METABOLISM | 2013 | Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco | |
| A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM | 2013 | Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco | |
| A NOVEL GENE FOR SPINOCEREBELLAR ATAXIA (SCA) LINKED TO CHROMOSOME 6 AND INVOLVED IN FATTY ACID METABOLISM | 2013 | Eleonora Di Gregorio; Barbara Borroni; Elisa Giorgio; Daniela Lacerenza; Cecilia Mancini; Alessandro Calcia; Isabella Mura; Domenico Coviello; Nico Mitro; Marion Gaussen; Nicola Lo Buono; Ada Funaro; Giovanna Vaula; Isabelle Lagroua; Laura Orsi; Alexandra Durr; Chiara Costanzi; Alessandro Padovani; Alexis Brice; Loredana Boccone; Eriola Hoxha; Filippo Tempia; Donatella Caruso; Giovanni Stevanin; Alfredo Brusco | |
| CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. | 2014 | Elisa Giorgio1; Viviana Caputo2; Andrea Ciolfi3;4; Eleonora Di Gregorio5; Alessandro Calcia1; Cecilia Mancini1; Simona Cavalieri5; Elga Belligni6; Elisa Biamino6; Cristina Molinatto6; Margherita Cirillo6; Giovanni Battista Ferrero6; Marco Tartaglia3; Alfredo Brusco1 | |
| 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 | |
| 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 | |
| Functional characterization of missense mutations in SCA28 patients, and development of a mouse model of the disease | 2011 | Mancini C; Roncaglia P; Stevanin G; Durr A; Brussino A; Cagnoli C; Krmac H; Limongi T; Montarolo F; Hoxha E; Turco E; Messana E; Altruda F; Gustincich S; Tempia F; Brusco A | |
| Functional characterization of missense mutations in SCA28 patients, development of a mouse model of the disease and screening of candidate genes for cerebellar ataxia | 2009 | Cagnoli C; Brussino A; Turco E; Mancini C; Altruda F; Brusco A | |
| Genome-wide expression analysis identified defects in cell growth, proliferation and viability in SCA28 lymphoblastoid cell lines. | 2013 | Mancini C; Roncaglia P; Brussino A; Stevanin G; Lo Buono N; Krmac H; Maltecca F; Gazzano E; Bartoletti Stella A.; Calvaruso M.A.; Iommarini L.; Cagnoli C.; Forlani S; Le Ber I; Durr A; Brice A; Ghigo D; Casari G; Porcelli AM; Funaro A; Gasparre G; Gustincich S; Brusco A | |
| Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways. | 2013 | MANCINI C.; Roncaglia P; Brussino A; Stevanin G; Lo Buono N; Krmac H; Maltecca F; Gazzano E; Bartoletti Stella A; Calvaruso MA; Iommarini L; Cagnoli C; Forlani S; Le Ber I; Durr A; Brice A; Ghigo D; Casari G; Porcelli AM; Funaro A; Gasparre G; Gustincich S; Brusco A. | |
| Identification of pathogenic mechanisms of Spinocerebellar Ataxia, type 28 (SCA28). | 2012 | MANCINI C.; Roncaglia P; Lo Buono N; Gazzano E; Bartoletti Stella A; Mariani E; Calvaruso M; Iommarini L; Brussino A; Cagnoli C.; Krmac H; Stevanin G; Forlani S; Funaro A; Durr A; Porcelli A; Ghigo D; Gasparre G; Gustincich S; Brusco A | |
| 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 | |
| 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 | |
| Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. | 2012 | MANCINI C.; Vaula G; Scalzitti L; Cavalieri S; Bertini E; Aiello C; Lucchini C; Gatti R A; Brussino A; Brusco A. | |
| One gene, two proteins: alternative splicing in human CD157/Bst1 unmasked | 2017 | Ferrero Enza, Lo Buono Nicola, Morone Simona, Parrotta Rossella, Giacomino Alice, Augeri Stefania, Mancini Cecilia, Rosal-Vela Antonio, Garcia-Rodriguez Sonia, Zubiaur Mercedes, Sancho Jaime, Ortolan Erika, Funaro Ada | |
| Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population | 2014 | A. Pelle; G. Mandrile; A. Cuccurullo; C. Mancini; R. Sebastiano; S. Varacalli; D. F. Giachino; M. De Marchi | |
| Spinocerebellar ataxia type 28: cellular and animal models to unravel the pathogenesis and to identify potential therapeutic targets | 2015 | CECILIA Mancini; ERIOLA Hoxha; EMILIA Turco; FIORELLA Altruda; FILIPPO Tempia; ALFREDO Brusco. | |
| Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare 28. | 2012 | Mancini C.; Roncaglia P.; Lo Buono N.; Gazzano E.; Brussino A.; Cagnoli C.; Krmac H.; Stevanin G.; Forlani S.; Hoxha E.; Funaro A.; Durr A.; Tempia F.; Altruda F.; Turco E.; Ghigo D.; Gustincich S.; Brusco A. | |
| Studio dei meccanismi patogenetici dell’Atassia Spinocerebellare tipo 28. | 2012 | MANCINI C.; Roncaglia P; Lo Buono N; Gazzano E; Bartoletti Stella A; Mariani E; Calvaruso M; Iommarini L; Brussino A; Cagnoli C.; Krmac H; Stevanin G; Forlani S; Funaro A; Durr A; Porcelli A; Ghigo D; Gasparre G; Gustincich S; Brusco A. |