CANITANO, ROBERTO
CANITANO, ROBERTO
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
2024-01-01 Mazel, Benoit; Delanne, Julian; Garde, Aurore; Racine, Caroline; Bruel, Ange-Line; Duffourd, Yannis; Lopergolo, Diego; Santorelli, Filippo Maria; Marchi, Viviana; Pinto, Anna Maria; Mencarelli, Maria Antonietta; Canitano, Roberto; Valentino, Floriana; Papa, Filomena Tiziana; Fallerini, Chiara; Mari, Francesca; Renieri, Alessandra; Munnich, Arnold; Niclass, Tanguy; Le Guyader, Gwenaël; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
2021-01-01 Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Maldergem, Lionel; Serrano, Mercedes; Pineda, Mercè; Fons-Estupina, Maria Del Carmen; Van Esch, Hilde; Breckpot, Jeroen; Kumps, Candy; Callewaert, Bert; Mueller, Sabrina; Ramelli, Gian Paolo; Armstrong, Judith; Renieri, Alessandra; Mari, Francesca
Natural history of KBG syndrome in a large European cohort
2022-01-01 Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
2020-01-01 Mochel, Fanny; Rastetter, Agnès; Ceulemans, Berten; Platzer, Konrad; Yang, Sandra; Shinde, Deepali N; Helbig, Katherine L; Lopergolo, Diego; Mari, Francesca; Renieri, Alessandra; Benetti, Elisa; Canitano, Roberto; Waisfisz, Quinten; Plomp, Astrid S; Huisman, Sylvia A; Wilson, Golder N; Cathey, Sara S; Louie, Raymond J; Gaudio, Daniela Del; Waggoner, Darrel; Kacker, Shawn; Nugent, Kimberly M; Roeder, Elizabeth R; Bruel, Ange-Line; Thevenon, Julien; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Kaiser, Frank J; Kamphausen, Susanne B; Abou Jamra, Rami; Weckhuysen, Sarah; Dalle, Carine; Depienne, Christel
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development | 1-gen-2024 | Mazel, Benoit; Delanne, Julian; Garde, Aurore; Racine, Caroline; Bruel, Ange-Line; Duffourd, Yannis; Lopergolo, Diego; Santorelli, Filippo Maria; Marchi, Viviana; Pinto, Anna Maria; Mencarelli, Maria Antonietta; Canitano, Roberto; Valentino, Floriana; Papa, Filomena Tiziana; Fallerini, Chiara; Mari, Francesca; Renieri, Alessandra; Munnich, Arnold; Niclass, Tanguy; Le Guyader, Gwenaël; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence | - | |
| IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? | 1-gen-2021 | Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Maldergem, Lionel; Serrano, Mercedes; Pineda, Mercè; Fons-Estupina, Maria Del Carmen; Van Esch, Hilde; Breckpot, Jeroen; Kumps, Candy; Callewaert, Bert; Mueller, Sabrina; Ramelli, Gian Paolo; Armstrong, Judith; Renieri, Alessandra; Mari, Francesca | - | |
| Natural history of KBG syndrome in a large European cohort | 1-gen-2022 | Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F; Spinelli, Alessandro Mauro; Bruno, Irene; Currò, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Õunap, Katrin; Haanpää, Maria K; Holubová, Andrea; Zoubková, Veronika; Schwarz, Martin; Žordania, Riina; Muru, Kai; Roht, Laura; Tihveräinen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Rizzo, Caterina Lo; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Pinto, Anna Maria | - | |
| Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders | 1-gen-2020 | Mochel, Fanny; Rastetter, Agnès; Ceulemans, Berten; Platzer, Konrad; Yang, Sandra; Shinde, Deepali N; Helbig, Katherine L; Lopergolo, Diego; Mari, Francesca; Renieri, Alessandra; Benetti, Elisa; Canitano, Roberto; Waisfisz, Quinten; Plomp, Astrid S; Huisman, Sylvia A; Wilson, Golder N; Cathey, Sara S; Louie, Raymond J; Gaudio, Daniela Del; Waggoner, Darrel; Kacker, Shawn; Nugent, Kimberly M; Roeder, Elizabeth R; Bruel, Ange-Line; Thevenon, Julien; Ehmke, Nadja; Horn, Denise; Holtgrewe, Manuel; Kaiser, Frank J; Kamphausen, Susanne B; Abou Jamra, Rami; Weckhuysen, Sarah; Dalle, Carine; Depienne, Christel | - |