PELOROSSO, CRISTIANA
PELOROSSO, CRISTIANA
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
An integrated approach combining massive parallel sequencing and in utero-based studies to identify and characterize novel genetic determinants in Focal Cortical Dysplasia
2021 Cristiana Pelorosso
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy
2019 Pelorosso, Cristiana; Watrin, Françoise; Conti, Valerio; Buhler, Emmanuelle; Gelot, Antoinette; Yang, Xiaoxu; Mei, Davide; McEvoy-Venneri, Jennifer; Manent, Jean-Bernard; Cetica, Valentina; Ball, Laurel L; Buccoliero, Anna Maria; Vinck, Antonin; Barba, Carmen; Gleeson, Joseph G; Guerrini, Renzo; Represa, Alfonso
Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy
2021 Vasudevaraja, Varshini; Rodriguez, Javier Hernaez; Pelorosso, Cristiana; Zhu, Kaicen; Buccoliero, Anna Maria; Onozato, Maristela; Mohamed, Hussein; Serrano, Jonathan; Tredwin, Lily; Garonzi, Marianna; Forcato, Claudio; Zeck, Briana; Ramaswami, Sitharam; Stafford, James; Faustin, Arline; Friedman, Daniel; Hidalgo, Eveline Teresa; Zagzag, David; Skok, Jane; Heguy, Adriana; Chiriboga, Luis; Conti, Valerio; Guerrini, Renzo; Iafrate, A. John; Devinsky, Orrin; Tsirigos, Aristotelis; Golfinos, John G.; Snuderl, Matija
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
2023 Annalisa Vetro , Cristiana Pelorosso , Simona Balestrini , Alessio Masi , Sophie Hambleton , Emanuela Argilli , Valerio Conti , Simone Giubbolini , Rebekah Barrick , Gaber Bergant , Karin Writzl , Emilia K Bijlsma , Theresa Brunet , Pilar Cacheiro , Davide Mei , Anita Devlin 4 , Mariëtte J V Hoffer , Keren Machol , Guido Mannaioni , Masamune Sakamoto , Manoj P Menezes , Thomas Courtin , Elliott Sherr , Riccardo Parra , Ruth Richardson , Tony Roscioli , Marcello Scala , Celina von Stülpnagel , Damian Smedley ; TMEM63B collaborators; Genomics England Research Consortium; Annalaura Torella , Jun Tohyama , Reiko Koichihara , Keisuke Hamada , Kazuhiro Ogata , Takashi Suzuki , Atsushi Sugie , Jasper J van der Smagt , Koen van Gassen , Stephanie Valence , Emma Vittery , Stephen Malone , Mitsuhiro Kato , Naomichi Matsumoto , Gian Michele Ratto , Renzo Guerrini
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| An integrated approach combining massive parallel sequencing and in utero-based studies to identify and characterize novel genetic determinants in Focal Cortical Dysplasia | 2021 | Cristiana Pelorosso | |
| Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy | 2019 | Pelorosso, Cristiana; Watrin, Françoise; Conti, Valerio; Buhler, Emmanuelle; Gelot, Antoinette; Yang, Xiaoxu; Mei, Davide; McEvoy-Venneri, Jennifer; Manent, Jean-Bernard; Cetica, Valentina; Ball, Laurel L; Buccoliero, Anna Maria; Vinck, Antonin; Barba, Carmen; Gleeson, Joseph G; Guerrini, Renzo; Represa, Alfonso | |
| Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy | 2021 | Vasudevaraja, Varshini; Rodriguez, Javier Hernaez; Pelorosso, Cristiana; Zhu, Kaicen; Buccoliero, Anna Maria; Onozato, Maristela; Mohamed, Hussein; Serrano, Jonathan; Tredwin, Lily; Garonzi, Marianna; Forcato, Claudio; Zeck, Briana; Ramaswami, Sitharam; Stafford, James; Faustin, Arline; Friedman, Daniel; Hidalgo, Eveline Teresa; Zagzag, David; Skok, Jane; Heguy, Adriana; Chiriboga, Luis; Conti, Valerio; Guerrini, Renzo; Iafrate, A. John; Devinsky, Orrin; Tsirigos, Aristotelis; Golfinos, John G.; Snuderl, Matija | |
| Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration | 2023 | Annalisa Vetro , Cristiana Pelorosso , Simona Balestrini , Alessio Masi , Sophie Hambleton , Emanuela Argilli , Valerio Conti , Simone Giubbolini , Rebekah Barrick , Gaber Bergant , Karin Writzl , Emilia K Bijlsma , Theresa Brunet , Pilar Cacheiro , Davide Mei , Anita Devlin 4 , Mariëtte J V Hoffer , Keren Machol , Guido Mannaioni , Masamune Sakamoto , Manoj P Menezes , Thomas Courtin , Elliott Sherr , Riccardo Parra , Ruth Richardson , Tony Roscioli , Marcello Scala , Celina von Stülpnagel , Damian Smedley ; TMEM63B collaborators; Genomics England Research Consortium; Annalaura Torella , Jun Tohyama , Reiko Koichihara , Keisuke Hamada , Kazuhiro Ogata , Takashi Suzuki , Atsushi Sugie , Jasper J van der Smagt , Koen van Gassen , Stephanie Valence , Emma Vittery , Stephen Malone , Mitsuhiro Kato , Naomichi Matsumoto , Gian Michele Ratto , Renzo Guerrini |