Sfoglia per Autore
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
2021 Battaglia, Domenica; Chieffo, Daniela; Luciiello, Simona; Marini, Carla; Sibilia, Valentina; Mei, Davide; Darra, Francesca; Offredi, Francesca; Fontana, Elena; Specchio, Nicola; Cappelletti, Simona; Granata, Tiziana; Ragona, Francesca; Patrini, Mara; Baglietto, Maria G.; Prato, Giulia; Ferrari, Annarita; Vigeviino, Federico; Mercuri, Eugenio; Dalla Bernardina, Bernardo; Guerrini, Renzo; Dravet, Charlotte; Guzzetta, Francesco
SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy
2022 Jo Sourbron , Katrien Jansen , Davide Mei , Trine Bjørg Hammer, Rikke S Møller , Nina B Gold , Lauren O'Grady , Renzo Guerrini , Lieven Lagae
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
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
2023 Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor Faundes , Yannis Duffourd , Pearl Lee , M Celeste Simon , Xavier de la Cruz , Natália Padilla , Marco Flores-Mendez , Naiara Akizu , Jacqueline Smiler , Renata Pellegrino Da Silva , Dong Li , Michael March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham Jr , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn Sarah Macklin-Mantia , Ilse Meerschaut , Bert Callewaert , André Reis , Christiane Zweier , Carole Brewer , Anand Saggar , Marie F Smeland , Ajith Kumar , Frances Elmslie , Charu Deshpande , Mathilde Nizon , Benjamin Cogne , Yvette van Ierland , Martina Wilke , Marjon van Slegtenhorst , Suzanne Koudijs , Jin Yun Chen , David Dredge , Danielle Pier , Saskia Wortmann , Erik-Jan Kamsteeg , Johannes Koch , Devon Haynes , Lynda Pollack , Hannah Titheradge , Kara Ranguin , Anne-Sophie Denommé-Pichon , Sacha Weber , Rubén Pérez de la Fuente , Jaime Sánchez Del Pozo , Jose Miguel Lezana Rosales , Pascal Joset , Katharina Steindl , Anita Rauch , Davide Mei ,Francesco Mari , Renzo Guerrini , James Lespinasse , Frédéric Tran Mau-Them , Christophe Philippe , Benjamin Dauriat , Laure Raymond , Sébastien Moutton , Anna M Cueto-González , Tiong Yang Tan , Cyril Mignot, Sarah Grotto , Florence Renaldo , Theodore G Drivas , Laura Hennessy , Anna Raper , Ilaria Parenti, Frank J Kaiser , Alma Kuechler , Øyvind L Busk , Lily Islam , Jacob A Siedlik , Lindsay B Henderson , Jane Juusola , Richard Person , Rhonda E Schnur , Antonio Vitobello , Siddharth Banka , Elizabeth J Bhoj , Holly A F Stessman
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome
2023 Nicola Specchio , Marina Trivisano , Matteo Lenge , Alessandro Ferretti , Davide Mei , Elena Parrini , Antonio Napolitano , Camilla Rossi-Espagnet , Giacomo Talenti , Daniela Longo , Jacopo Proietti , Francesca Ragona , Elena Freri , Roberta Solazzi , Tiziana Granata , Francesca Darra , Bernardo Dalla Bernardina , Federico Vigevano , Renzo Guerrini
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome
2023 Matteo Lenge , Simona Balestrini , Davide Mei , Letizia Macconi , Maria Eugenia Caligiuri , Valeria Cuccarini , Domenico Aquino , Federica Mazzi , Ludovico d'Incerti , Francesca Darra , Bernardo Dalla Bernardina , Renzo Guerrini
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
2023 Daniel G Calame 1 , Tianyu Guo 2 , Chen Wang 2 , Lillian Garrett 3 , Angad Jolly 4 , Moez Dawood 5 , Alina Kurolap 6 , Noa Zunz Henig 6 , Jawid M Fatih , Isabella Herman , Haowei Du , Tadahiro Mitani , Lore Becker , Birgit Rathkolb , Raffaele Gerlini , Claudia Seisenberger , Susan Marschall , Jill V Hunter , Amanda Gerard , Alexis Heidlebaugh , Thomas Challman , Rebecca C Spillmann , Shalini N Jhangiani , Zeynep Coban-Akdemir , Seema Lalani , Lingxiao Liu , Anya Revah-Politi , Alejandro Iglesias , Edwin Guzman , Evan Baugh , Nathalie Boddaert , Sophie Rondeau , Clothide Ormieres , Giulia Barcia , Queenie K G Tan , Isabelle Thiffault , Tomi Pastinen , Kazim Sheikh , Suur Biliciler , Davide Mei , Federico Melani , Vandana Shashi , Yuval Yaron , Mary Steele , Emma Wakeling , Elsebet Østergaard , Lusine Nazaryan-Petersen ; Undiagnosed Diseases Network; Francisca Millan , Teresa Santiago-Sim , Julien Thevenon , Ange-Line Bruel , Christel Thauvin-Robinet , Denny Popp , Konrad Platzer , Pawel Gawlinski , Wojciech Wiszniewski , Dana Marafi , Davut Pehlivan , Jennifer E Posey , Richard A Gibbs , Valerie Gailus-Durner , Renzo Guerrini , Helmut Fuchs , Martin Hrabě de Angelis , Sabine M Hölter , Hoi-Hung Cheung , Shen Gu , James R Lupski
Steps to Improve Precision Medicine in Epilepsy.
2023 Simona Balestrini, Davide Mei , Sanjay M Sisodiya , Renzo Guerrini
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life | 2021 | Battaglia, Domenica; Chieffo, Daniela; Luciiello, Simona; Marini, Carla; Sibilia, Valentina; Mei, Davide; Darra, Francesca; Offredi, Francesca; Fontana, Elena; Specchio, Nicola; Cappelletti, Simona; Granata, Tiziana; Ragona, Francesca; Patrini, Mara; Baglietto, Maria G.; Prato, Giulia; Ferrari, Annarita; Vigeviino, Federico; Mercuri, Eugenio; Dalla Bernardina, Bernardo; Guerrini, Renzo; Dravet, Charlotte; Guzzetta, Francesco | |
| SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy | 2022 | Jo Sourbron , Katrien Jansen , Davide Mei , Trine Bjørg Hammer, Rikke S Møller , Nina B Gold , Lauren O'Grady , Renzo Guerrini , Lieven Lagae | |
| 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 | |
| Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice | 2023 | Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor Faundes , Yannis Duffourd , Pearl Lee , M Celeste Simon , Xavier de la Cruz , Natália Padilla , Marco Flores-Mendez , Naiara Akizu , Jacqueline Smiler , Renata Pellegrino Da Silva , Dong Li , Michael March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham Jr , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn Sarah Macklin-Mantia , Ilse Meerschaut , Bert Callewaert , André Reis , Christiane Zweier , Carole Brewer , Anand Saggar , Marie F Smeland , Ajith Kumar , Frances Elmslie , Charu Deshpande , Mathilde Nizon , Benjamin Cogne , Yvette van Ierland , Martina Wilke , Marjon van Slegtenhorst , Suzanne Koudijs , Jin Yun Chen , David Dredge , Danielle Pier , Saskia Wortmann , Erik-Jan Kamsteeg , Johannes Koch , Devon Haynes , Lynda Pollack , Hannah Titheradge , Kara Ranguin , Anne-Sophie Denommé-Pichon , Sacha Weber , Rubén Pérez de la Fuente , Jaime Sánchez Del Pozo , Jose Miguel Lezana Rosales , Pascal Joset , Katharina Steindl , Anita Rauch , Davide Mei ,Francesco Mari , Renzo Guerrini , James Lespinasse , Frédéric Tran Mau-Them , Christophe Philippe , Benjamin Dauriat , Laure Raymond , Sébastien Moutton , Anna M Cueto-González , Tiong Yang Tan , Cyril Mignot, Sarah Grotto , Florence Renaldo , Theodore G Drivas , Laura Hennessy , Anna Raper , Ilaria Parenti, Frank J Kaiser , Alma Kuechler , Øyvind L Busk , Lily Islam , Jacob A Siedlik , Lindsay B Henderson , Jane Juusola , Richard Person , Rhonda E Schnur , Antonio Vitobello , Siddharth Banka , Elizabeth J Bhoj , Holly A F Stessman | |
| CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome | 2023 | Nicola Specchio , Marina Trivisano , Matteo Lenge , Alessandro Ferretti , Davide Mei , Elena Parrini , Antonio Napolitano , Camilla Rossi-Espagnet , Giacomo Talenti , Daniela Longo , Jacopo Proietti , Francesca Ragona , Elena Freri , Roberta Solazzi , Tiziana Granata , Francesca Darra , Bernardo Dalla Bernardina , Federico Vigevano , Renzo Guerrini | |
| Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome | 2023 | Matteo Lenge , Simona Balestrini , Davide Mei , Letizia Macconi , Maria Eugenia Caligiuri , Valeria Cuccarini , Domenico Aquino , Federica Mazzi , Ludovico d'Incerti , Francesca Darra , Bernardo Dalla Bernardina , Renzo Guerrini | |
| Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease | 2023 | Daniel G Calame 1 , Tianyu Guo 2 , Chen Wang 2 , Lillian Garrett 3 , Angad Jolly 4 , Moez Dawood 5 , Alina Kurolap 6 , Noa Zunz Henig 6 , Jawid M Fatih , Isabella Herman , Haowei Du , Tadahiro Mitani , Lore Becker , Birgit Rathkolb , Raffaele Gerlini , Claudia Seisenberger , Susan Marschall , Jill V Hunter , Amanda Gerard , Alexis Heidlebaugh , Thomas Challman , Rebecca C Spillmann , Shalini N Jhangiani , Zeynep Coban-Akdemir , Seema Lalani , Lingxiao Liu , Anya Revah-Politi , Alejandro Iglesias , Edwin Guzman , Evan Baugh , Nathalie Boddaert , Sophie Rondeau , Clothide Ormieres , Giulia Barcia , Queenie K G Tan , Isabelle Thiffault , Tomi Pastinen , Kazim Sheikh , Suur Biliciler , Davide Mei , Federico Melani , Vandana Shashi , Yuval Yaron , Mary Steele , Emma Wakeling , Elsebet Østergaard , Lusine Nazaryan-Petersen ; Undiagnosed Diseases Network; Francisca Millan , Teresa Santiago-Sim , Julien Thevenon , Ange-Line Bruel , Christel Thauvin-Robinet , Denny Popp , Konrad Platzer , Pawel Gawlinski , Wojciech Wiszniewski , Dana Marafi , Davut Pehlivan , Jennifer E Posey , Richard A Gibbs , Valerie Gailus-Durner , Renzo Guerrini , Helmut Fuchs , Martin Hrabě de Angelis , Sabine M Hölter , Hoi-Hung Cheung , Shen Gu , James R Lupski | |
| Steps to Improve Precision Medicine in Epilepsy. | 2023 | Simona Balestrini, Davide Mei , Sanjay M Sisodiya , Renzo Guerrini |
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