GANA, SIMONE
GANA, SIMONE
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature
2025-01-01 Politano, Davide; Marazzi, Francesca; Scognamillo, Ilaria; Morelli, Federica; Signorini, Sabrina; Gana, Simone; Nicolosi, Silvia; Rognone, Elisa; Borgatti, Renato; Valente, Enza Maria; Romaniello, Romina
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot
2022-01-01 Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome
2020-01-01 Gana, S.; Plumari, M.; Rossi, E.; Saracino, A.; Iorio, M.; Zanaboni, M. P.; Orcesi, S.; Valente, E. M.
Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism
2026-01-01 Gallo, L.; Ben Mansour, E.; Nicolosi, S.; Pichiecchio, A.; Gana, S.; Ben Sassi, S.; Cristina, S.; Avenali, M.; Valente, E. M.
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
2024-01-01 Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E. C.; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B.; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N.; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A.; Lalani, Seema R.; Streff, Haley; Null, Null; Kooy, R. Frank; Weckhuysen, Sarah
Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report
2023-01-01 Parravicini, Stefano; Pasca, Ludovica; Zanaboni, Martina Paola; Varesio, Costanza; Rognone, Elisa; Totaro, Martina; Gana, Simone; Rossi, Elena; De Giorgis, Valentina
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency
2025-01-01 Politano, Davide; Mancini, Cecilia; Celario, Massimiliano; Clementina Radio, Francesca; D’Abrusco, Fulvio; 4, Jessica Garau; Kalantari, Silvia; Visani, Gaia; Carbonera, Simone; Gana, Simone; Ferilli, Marco; Chiriatti, Luigi; Cappelletti, Camilla; Ellena, Katia; Prodi, Elena; Borgatti, Renato; Valente, Enza Maria; Orcesi, Simona; Tartaglia, Marco; Sirchia, Fabio
Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study
2025-01-01 Quaranta, Carlo Alberto; Gardani, Alice; Andorno, Giulia; Pichiecchio, Anna; Gana, Simone; Borgatti, Renato; Orcesi, Simona
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement
2025-01-01 D'Abrusco, Fulvio; Gana, Simone; Alfei, Enrico; Scarano, Emanuela; Nicita, Francesco; Bertini, Enrico Silvio; Digilio, Maria Cristina; Zanni, Ginevra; Barbuti, Domenico; Carlicchi, Eleonora; Pichiecchio, Anna; D'Arrigo, Stefano; Serpieri, Valentina; Valente, Enza Maria
Genotype-phenotype correlates in Joubert syndrome: A review
2022-01-01 Gana, Simone; Serpieri, Valentina; Valente, Enza Maria
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions
2021-01-01 Carbone, R.; Rovedatti, L.; Lenti, M. V.; Furlan, D.; Errichiello, E.; Gana, S.; Luinetti, O.; Arpa, G.; Alvisi, C.; De Grazia, F.; Valente, E. M.; Sessa, F.; Paulli, M.; Vanoli, A.; Di Sabatino, A.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
2015-01-01 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; DELLA MINA, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association
2015-01-01 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
2024-01-01 Gana, Simone; Di Biagio, Marta; Carraro, Laura; Rossetto, Gloria; Scarpelli, Laura; Scognamillo, Ilaria; Valente, Enza Maria; Signorini, Sabrina
Movement Disorders in Genetic Pediatric Ataxias
2020-01-01 Gana, S.; Valente, E. M.
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic
2020-01-01 Cortese, Andrea; Callegari, Ilaria; Currò, Riccardo; Vegezzi, Elisa; Colnaghi, Silvia; Versino, Maurizio; Alfonsi, Enrico; Cosentino, Giuseppe; Valente, Enzamaria; Gana, Simone; Tassorelli, Cristina; Pichiecchio, Anna; Rossor, Alexander M; Bugiardini, Enrico; Biroli, Antonio; Di Capua, Daniela; Houlden, Henry; Reilly, Mary M
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
2024-01-01 Mei, Davide; Balestrini, Simona; Parrini, Elena; Gambardella, Antonio; Annesi, Grazia; De Giorgis, Valentina; Gana, Simone; Bassi, Maria Teresa; Zucca, Claudio; Elia, Maurizio; Vetri, Luigi; Castellotti, Barbara; Ragona, Francesca; Mastrangelo, Mario; Pisani, Francesco; D'Orsi, Giuseppe; Carella, Massimo; Pruna, Dario; Giglio, Sabrina; Marini, Carla; Cesaroni, Elisabetta; Riva, Antonella; Scala, Marcello; Licchetta, Laura; Minardi, Raffaella; Contaldo, Ilaria; Gambardella, Maria Luigia; Cossu, Alberto; Proietti, Jacopo; Cantalupo, Gaetano; Null, Null; Trivisano, Marina; De Dominicis, Angela; Specchio, Nicola; Tassi, Laura; Guerrini, Renzo
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates
2024-01-01 Gana, Simone; D'Abrusco, Fulvio; Nicotra, Roberta; Ghiberti, Chiara; Catalano, Guido; Rognone, Elisa; Pichiecchio, Anna; Signorini, Sabrina; Valente, Enza Maria
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
2024-01-01 D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives
2024-01-01 Saracino, Annalisa; Totaro, Martina; Politano, Davide; DE Giorgis, Valentina; Gana, Simone; Papalia, Grazia; Pichiecchio, Anna; Plumari, Massimo; Rognone, Elisa; Varesio, Costanza; Orcesi, Simona
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature | 1-gen-2025 | Politano, Davide; Marazzi, Francesca; Scognamillo, Ilaria; Morelli, Federica; Signorini, Sabrina; Gana, Simone; Nicolosi, Silvia; Rognone, Elisa; Borgatti, Renato; Valente, Enza Maria; Romaniello, Romina | |
| A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot | 1-gen-2022 | Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo | |
| Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome | 1-gen-2020 | Gana, S.; Plumari, M.; Rossi, E.; Saracino, A.; Iorio, M.; Zanaboni, M. P.; Orcesi, S.; Valente, E. M. | |
| Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism | 1-gen-2026 | Gallo, L.; Ben Mansour, E.; Nicolosi, S.; Pichiecchio, A.; Gana, S.; Ben Sassi, S.; Cristina, S.; Avenali, M.; Valente, E. M. | |
| Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes | 1-gen-2024 | Smal, Noor; Majdoub, Fatma; Janssens, Katrien; Reyniers, Edwin; Meuwissen, Marije E. C.; Ceulemans, Berten; Northrup, Hope; Hill, Jeremy B.; Liu, Lingying; Errichiello, Edoardo; Gana, Simone; Strong, Alanna; Rohena, Luis; Franciskovich, Rachel; Murali, Chaya N.; Huybrechs, An; Sulem, Telma; Fridriksdottir, Run; Sulem, Patrick; Stefansson, Kari; Bai, Yan; Rosenfeld, Jill A.; Lalani, Seema R.; Streff, Haley; Null, Null; Kooy, R. Frank; Weckhuysen, Sarah | |
| Electroclinical Improvement in a Patient with Ring Chromosome 20 Syndrome Treated with Zonisamide: A Case Report | 1-gen-2023 | Parravicini, Stefano; Pasca, Ludovica; Zanaboni, Martina Paola; Varesio, Costanza; Rognone, Elisa; Totaro, Martina; Gana, Simone; Rossi, Elena; De Giorgis, Valentina | |
| Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency | 1-gen-2025 | Politano, Davide; Mancini, Cecilia; Celario, Massimiliano; Clementina Radio, Francesca; D’Abrusco, Fulvio; 4, Jessica Garau; Kalantari, Silvia; Visani, Gaia; Carbonera, Simone; Gana, Simone; Ferilli, Marco; Chiriatti, Luigi; Cappelletti, Camilla; Ellena, Katia; Prodi, Elena; Borgatti, Renato; Valente, Enza Maria; Orcesi, Simona; Tartaglia, Marco; Sirchia, Fabio | |
| Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study | 1-gen-2025 | Quaranta, Carlo Alberto; Gardani, Alice; Andorno, Giulia; Pichiecchio, Anna; Gana, Simone; Borgatti, Renato; Orcesi, Simona | |
| Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement | 1-gen-2025 | D'Abrusco, Fulvio; Gana, Simone; Alfei, Enrico; Scarano, Emanuela; Nicita, Francesco; Bertini, Enrico Silvio; Digilio, Maria Cristina; Zanni, Ginevra; Barbuti, Domenico; Carlicchi, Eleonora; Pichiecchio, Anna; D'Arrigo, Stefano; Serpieri, Valentina; Valente, Enza Maria | |
| Genotype-phenotype correlates in Joubert syndrome: A review | 1-gen-2022 | Gana, Simone; Serpieri, Valentina; Valente, Enza Maria | |
| Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions | 1-gen-2021 | Carbone, R.; Rovedatti, L.; Lenti, M. V.; Furlan, D.; Errichiello, E.; Gana, S.; Luinetti, O.; Arpa, G.; Alvisi, C.; De Grazia, F.; Valente, E. M.; Sessa, F.; Paulli, M.; Vanoli, A.; Di Sabatino, A. | |
| Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association | 1-gen-2015 | Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; DELLA MINA, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta | |
| Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association | 1-gen-2015 | Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta | |
| LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations? | 1-gen-2024 | Gana, Simone; Di Biagio, Marta; Carraro, Laura; Rossetto, Gloria; Scarpelli, Laura; Scognamillo, Ilaria; Valente, Enza Maria; Signorini, Sabrina | |
| Movement Disorders in Genetic Pediatric Ataxias | 1-gen-2020 | Gana, S.; Valente, E. M. | |
| Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic | 1-gen-2020 | Cortese, Andrea; Callegari, Ilaria; Currò, Riccardo; Vegezzi, Elisa; Colnaghi, Silvia; Versino, Maurizio; Alfonsi, Enrico; Cosentino, Giuseppe; Valente, Enzamaria; Gana, Simone; Tassorelli, Cristina; Pichiecchio, Anna; Rossor, Alexander M; Bugiardini, Enrico; Biroli, Antonio; Di Capua, Daniela; Houlden, Henry; Reilly, Mary M | |
| National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy | 1-gen-2024 | Mei, Davide; Balestrini, Simona; Parrini, Elena; Gambardella, Antonio; Annesi, Grazia; De Giorgis, Valentina; Gana, Simone; Bassi, Maria Teresa; Zucca, Claudio; Elia, Maurizio; Vetri, Luigi; Castellotti, Barbara; Ragona, Francesca; Mastrangelo, Mario; Pisani, Francesco; D'Orsi, Giuseppe; Carella, Massimo; Pruna, Dario; Giglio, Sabrina; Marini, Carla; Cesaroni, Elisabetta; Riva, Antonella; Scala, Marcello; Licchetta, Laura; Minardi, Raffaella; Contaldo, Ilaria; Gambardella, Maria Luigia; Cossu, Alberto; Proietti, Jacopo; Cantalupo, Gaetano; Null, Null; Trivisano, Marina; De Dominicis, Angela; Specchio, Nicola; Tassi, Laura; Guerrini, Renzo | |
| Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates | 1-gen-2024 | Gana, Simone; D'Abrusco, Fulvio; Nicotra, Roberta; Ghiberti, Chiara; Catalano, Guido; Rognone, Elisa; Pichiecchio, Anna; Signorini, Sabrina; Valente, Enza Maria | |
| Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome | 1-gen-2024 | D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria | |
| PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives | 1-gen-2024 | Saracino, Annalisa; Totaro, Martina; Politano, Davide; DE Giorgis, Valentina; Gana, Simone; Papalia, Grazia; Pichiecchio, Anna; Plumari, Massimo; Rognone, Elisa; Varesio, Costanza; Orcesi, Simona |