CAMELI, CINZIA
CAMELI, CINZIA
DIPARTIMENTO DI FARMACIA E BIOTECNOLOGIE
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
2024 Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.; Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E.
Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility
2022 Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scaduto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli
Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility
2022 Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena
Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility
2022 Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Maria C. Scaduto, Roberta Colucci, Magalì Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Paola Visconti, Elena Bacchelli, Elena Maestrini
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder
2022 Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenesini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra
Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype
2022 Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Flavia Baccari, Martina Romagnoli, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Elena Maestrini, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Bacchelli, Magali Rochat, Valerio Carelli, Alessandra Maresca
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
2021 Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E.
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray
2020 Bacchelli, Elena; Cameli, Cinzia; Viggiano, Marta; Igliozzi, Roberta; Mancini, Alice; Tancredi, Raffaella; Battaglia, Agatino; Maestrini, Elena
Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old.
2020 Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti
ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario
2020 Loi E.; Moi L.; Blois S.; Bacchelli E.; Vega Benedetti A.F.; Cameli C.; Fadda R.; Maestrini E.; Carta M.; Doneddu G.; Zavattari P.
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene
2019 Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Blois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies
2019 Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers, Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Heather C.; Tinuper, Paolo; Bisulli, Francesca; Santucci, Margherita
Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment
2018 Cameli C.; Bacchelli E.; De Paola M.; Giucastro G.; Cifiello S.; Collo G.; Cainazzo M.M.; Pini L.A.; Maestrini E.; Zoli M.
Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas
2018 Antonelli, Manila; Fadda, Antonio; Loi, Eleonora; Moi, Loredana; Zavattari, Cesare; Sulas, Pia; Gentilini, Davide; Cameli, Cinzia; Bacchelli, Elena; Badiali, Manuela; Arcella, Antonella; Morra, Isabella; Giangaspero, Felice; Zavattari, Patrizia*
A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants
2016 Bacchelli, Elena; Cainazzo, Maria Michela; Cameli, Cinzia; Guerzoni, Simona; Martinelli, Angela; Zoli, Michele; Maestrini, Elena; Pini, Luigi Alberto
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility
2015 Bacchelli, Elena; Battaglia, Agatino; Cameli, Cinzia; Lomartire, Silvia; Tancredi, Raffaella; Thomson, Susanne; Sutcliffe, James S.; Maestrini, Elena
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates | Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.;... Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E. | 2024-01-01 | NPJ GENOMIC MEDICINE | - | 1.01 Articolo in rivista | Viggiano_NPJGenMed24.pdf; 41525_2024_411_MOESM1_ESM_compressed (1).pdf |
| Contribution of CACNA1H variants in Autism Spectrum Disorder Susceptibility |
Marta Viggiano, Tiziano D’Andrea, Cinzia Cameli, Annio Posar, Paola Visconti, Maria Cristina Scad...uto, Roberta Colucci, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Elena Maestrini, Elena Bacchelli |
2022-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility | Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria... Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena | 2022-01-01 | FRONTIERS IN PSYCHIATRY | - | 1.01 Articolo in rivista | Viggiano et al.pdf; Data-Sheet_1.pdf |
| Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility | Marta Viggiano, Tiziano D'Andrea, Cinzia Cameli, Annio Posar, Maria C. Scaduto, Roberta Colucci, ...Magalì Rochat, Fabiola Ceroni, Giorgio Milazzo, Sergio Fucile, Paola Visconti, Elena Bacchelli, Elena Maestrini | 2022-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.06 Abstract in rivista | Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility.pdf |
| Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder | Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenes...ini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra | 2022-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | Caporali_mitogenomce_FrontG2022.pdf |
| Mitochondrial DNA influences the susceptibility to Autism Spectrum Disorders and the severity of the clinical phenotype | Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Flavia Baccari, Martina Romagnoli, Paola Visc...onti, Annio Posar, Maria Cristina Scaduto, Elena Maestrini, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Bacchelli, Magali Rochat, Valerio Carelli, Alessandra Maresca | 2022-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.06 Abstract in rivista | - |
| An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. | Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. | 2021-01-01 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | jcmm.16161.pdf |
| An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray | Bacchelli, Elena; Cameli, Cinzia; Viggiano, Marta; Igliozzi, Roberta; Mancini, Alice; Tancredi, R...affaella; Battaglia, Agatino; Maestrini, Elena | 2020-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | Bacchelli_PsychArray_sr20.pdf |
| Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old. | Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina... Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti | 2020-01-01 | BRAIN SCIENCES | - | 1.01 Articolo in rivista | brainsci-10-00741.pdf; brainsci-10-00741-s001.pdf |
| ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario | Loi E.; Moi L.; Blois S.; Bacchelli E.; Vega Benedetti A.F.; Cameli C.; Fadda R.; Maestrini E.; C...arta M.; Doneddu G.; Zavattari P. | 2020-01-01 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | ELMOD3‐SH2D6_jcmm19.pdf |
| Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene | Bacchelli, Elena; Loi, Eleonora; Cameli, Cinzia; Moi, Loredana; Benedetti, Ana Florencia Vega; Bl...ois, Sylvain; Fadda, Antonio; Bonora, Elena; Mattu, Sandra; Fadda, Roberta; Chessa, Rita; Maestrini, Elena; Doneddu, Giuseppe; Zavattari, Patrizia | 2019-01-01 | JOURNAL OF CLINICAL MEDICINE | - | 1.01 Articolo in rivista | Bacchelli_CAPG_ jcm19.pdf |
| Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies | Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers..., Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Heather C.; Tinuper, Paolo; Bisulli, Francesca; Santucci, Margherita | 2019-01-01 | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | - | 1.01 Articolo in rivista | acn3.722.pdf; acn3722-sup-0001-supinfo.docx |
| Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment | Cameli C.; Bacchelli E.; De Paola M.; Giucastro G.; Cifiello S.; Collo G.; Cainazzo M.M.; Pini L....A.; Maestrini E.; Zoli M. | 2018-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas | Antonelli, Manila; Fadda, Antonio; Loi, Eleonora; Moi, Loredana; Zavattari, Cesare; Sulas, Pia; G...entilini, Davide; Cameli, Cinzia; Bacchelli, Elena; Badiali, Manuela; Arcella, Antonella; Morra, Isabella; Giangaspero, Felice; Zavattari, Patrizia* | 2018-01-01 | ONCOTARGET | - | 1.01 Articolo in rivista | 24480-342780-4-PB.pdf |
| A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants | Bacchelli, Elena; Cainazzo, Maria Michela; Cameli, Cinzia; Guerzoni, Simona; Martinelli, Angela; ...Zoli, Michele; Maestrini, Elena; Pini, Luigi Alberto | 2016-01-01 | THE JOURNAL OF HEADACHE AND PAIN | - | 1.01 Articolo in rivista | Bacchelli_CH_TJHP.pdf |
| Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility | Bacchelli, Elena; Battaglia, Agatino; Cameli, Cinzia; Lomartire, Silvia; Tancredi, Raffaella; Tho...mson, Susanne; Sutcliffe, James S.; Maestrini, Elena | 2015-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |