Sfoglia per Autore
A versatile clearing agent for multi-modal brain imaging
2015 Costantini, Irene; Ghobril, Jean-Pierre; Di Giovanna, Antonino Paolo; Mascaro, Anna Letizia Allegra; Silvestri, Ludovico; Müllenbroich, Marie Caroline; Onofri, Leonardo; Conti, Valerio; Vanzi, Francesco; Sacconi, Leonardo; Guerrini, Renzo; Markram, Henry; Iannello, Giulio; Pavone, Francesco Saverio
Computer-based automatic identification of neurons in gigavoxel-sized 3D human brain images
2015 Soda, Paolo; Acciai, Ludovica; Cordelli, Ermanno; Costantini, Irene; Sacconi, Leonardo; Pavone, Francesco Saverio; Conti, Valerio; Guerrini, Renzo; Frasconi, Paolo; Iannello, Giulio
Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children
2017 Anand, Suresh; Cicchi, Riccardo; Giordano, Flavio; Conti, Valerio; Buccoliero, Anna Maria; Guerrini, Renzo; Pavone, Francesco Saverio
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
2019 Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedì, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia Wortmann, Erez Y Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini
3D reconstruction and analysis of four human brain cortex samples with two-photon fluorescence microscopy
2020 I. Constantini; G. Mazzamuto; M. Roffilli; A. Laurino; F. Castelli; M. Neri; G. Lughi; A. Simonetto; E. Lazzeri; L. Pesce; C. Destrieux; L. Silvestri; V. Conti; R. Guerrini; F. Pavone
Lesional and non-lesional epilepsies: A blurring genetic boundary.
2020 Guerrini R, Parrini E, Esposito A, Fassio A, Conti V
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
Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture
2021 Irene Costantini and Giacomo Mazzamuto and Matteo Roffilli and Annunziatina Laurino and Filippo Maria Castelli and Mattia Neri and Giovanni Lughi and Andrea Simonetto and Erica Lazzeri and Luca Pesce and Christophe Destrieux and Ludovico Silvestri and Valerio Conti and Renzo Guerrini and Francesco Saverio Pavone
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
2022 Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan; Møller, Rikke S; Hammer, Trine B; Keski Filppula, Riikka; Vieira, Päivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean-Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
2022 Filomena Pirozzi , Matthew Berkseth , Rylee Shear , Lorenzo Gonzalez , Andrew E Timms , Josef Sulc , Emily Pao , Nora Oyama , Francesca Forzano , Valerio Conti , Renzo Guerrini , Emily S Doherty , Sulagna C Saitta, Christina M Lockwood , Colin C Pritchard , William B Dobyns , Edward Novotny , Jason N N Wright , Russell P Saneto, Seth Friedman , Jason Hauptman , Jeffrey Ojemann , Raj P Kapur , Ghayda M Mirzaa.
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
2023 Guerrini, Renzo; Conti, Valerio; Mantegazza, Massimo; Balestrini, Simona; Galanopoulou, Aristea S; Benfenati, Fabio
Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series.
2023 Caporalini C, Scagnet M, Giunti L, Cetica V, Mei D, Conti V, Moscardi S, Macconi L, Giordano F, D'Incerti L, Genitori L, Guerrini R, Buccoliero AM.
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 |
|---|---|---|---|
| A versatile clearing agent for multi-modal brain imaging | 2015 | Costantini, Irene; Ghobril, Jean-Pierre; Di Giovanna, Antonino Paolo; Mascaro, Anna Letizia Allegra; Silvestri, Ludovico; Müllenbroich, Marie Caroline; Onofri, Leonardo; Conti, Valerio; Vanzi, Francesco; Sacconi, Leonardo; Guerrini, Renzo; Markram, Henry; Iannello, Giulio; Pavone, Francesco Saverio | |
| Computer-based automatic identification of neurons in gigavoxel-sized 3D human brain images | 2015 | Soda, Paolo; Acciai, Ludovica; Cordelli, Ermanno; Costantini, Irene; Sacconi, Leonardo; Pavone, Francesco Saverio; Conti, Valerio; Guerrini, Renzo; Frasconi, Paolo; Iannello, Giulio | |
| Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children | 2017 | Anand, Suresh; Cicchi, Riccardo; Giordano, Flavio; Conti, Valerio; Buccoliero, Anna Maria; Guerrini, Renzo; Pavone, Francesco Saverio | |
| Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course | 2019 | Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedì, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia Wortmann, Erez Y Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini | |
| 3D reconstruction and analysis of four human brain cortex samples with two-photon fluorescence microscopy | 2020 | I. Constantini; G. Mazzamuto; M. Roffilli; A. Laurino; F. Castelli; M. Neri; G. Lughi; A. Simonetto; E. Lazzeri; L. Pesce; C. Destrieux; L. Silvestri; V. Conti; R. Guerrini; F. Pavone | |
| Lesional and non-lesional epilepsies: A blurring genetic boundary. | 2020 | Guerrini R, Parrini E, Esposito A, Fassio A, Conti V | |
| 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 | |
| Large-scale, cell-resolution volumetric mapping allows layer-specific investigation of human brain cytoarchitecture | 2021 | Irene Costantini and Giacomo Mazzamuto and Matteo Roffilli and Annunziatina Laurino and Filippo Maria Castelli and Mattia Neri and Giovanni Lughi and Andrea Simonetto and Erica Lazzeri and Luca Pesce and Christophe Destrieux and Ludovico Silvestri and Valerio Conti and Renzo Guerrini and Francesco Saverio Pavone | |
| Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis | 2022 | Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Von Allmen, Gretchen; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan; Møller, Rikke S; Hammer, Trine B; Keski Filppula, Riikka; Vieira, Päivi; Hildebrandt, Clara; Sacharow, Stephanie; Maragliano, Luca; Benfenati, Fabio; Lachlan, Katherine; Benneche, Andreas; Petit, Florence; de Sainte Agathe, Jean-Madeleine; Hallinan, Barbara; Si, Yue; Wentzensen, Ingrid M; Zou, Fanggeng; Narayanan, Vinodh; Matsumoto, Naomichi; Boncristiano, Alessandra; la Marca, Giancarlo; Kato, Mitsuhiro; Anderson, Kristin; Barba, Carmen; Sturiale, Luisa; Garozzo, Domenico; Bei, Roberto; Masuelli, Laura; Conti, Valerio; Novarino, Gaia; Fassio, Anna | |
| Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care | 2022 | Filomena Pirozzi , Matthew Berkseth , Rylee Shear , Lorenzo Gonzalez , Andrew E Timms , Josef Sulc , Emily Pao , Nora Oyama , Francesca Forzano , Valerio Conti , Renzo Guerrini , Emily S Doherty , Sulagna C Saitta, Christina M Lockwood , Colin C Pritchard , William B Dobyns , Edward Novotny , Jason N N Wright , Russell P Saneto, Seth Friedman , Jason Hauptman , Jeffrey Ojemann , Raj P Kapur , Ghayda M Mirzaa. | |
| Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum | 2023 | Guerrini, Renzo; Conti, Valerio; Mantegazza, Massimo; Balestrini, Simona; Galanopoulou, Aristea S; Benfenati, Fabio | |
| Myxoid glioneuronal tumor: Histopathologic, neuroradiologic, and molecular features in a single center series. | 2023 | Caporalini C, Scagnet M, Giunti L, Cetica V, Mei D, Conti V, Moscardi S, Macconi L, Giordano F, D'Incerti L, Genitori L, Guerrini R, Buccoliero AM. | |
| 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 |
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