GUERRINI, RENZO
GUERRINI, RENZO
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature.
2012 Valvo G; Novara F; Brovedani P; Ferrari AR; Guerrini R; Zuffardi O; Sicca F
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
7T MRI in focal epilepsy with unrevealing conventional field strength imaging
2016 DE CIANTIS, Alessio; Barba, Carmen; Tassi, Laura; Cosottini, Mirco; Tosetti, Michela; Costagli, Mauro; Bramerio, Manuela; Bartolini, Emanuele; Biagi, Laura; Cossu, Massimo; Pelliccia, Veronica; Symms, Mark R; Guerrini, Renzo
A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.
2008 Pramparo T; de Gregori M; Gimelli S; Ciccone R; Frondizi D; Liehr T; Pellacani S; Masi G; Brovedani P; Zuffardi O; Guerrini R.
A brain atlas of axonal and synaptic delays based on modelling of cortico-cortical evoked potentials
2022 Lemaréchal JD, Jedynak M, Trebaul L, Boyer A, Tadel F, Bhattacharjee M, Deman P, Tuyisenge V, Ayoubian L, Hugues E, Chanteloup-Forêt B, Saubat C, Zouglech R, Reyes Mejia GC, Tourbier S, Hagmann P, Adam C, Barba C, Bartolomei F, Blauwblomme T, Curot J, Dubeau F, Francione S, Garcés M, Hirsch E, Landré E, Liu S, Maillard L, Metsähonkala EL, Mindruta I, Nica A, Pail M, Petrescu AM, Rheims S, Rocamora R, Schulze-Bonhage A, Szurhaj W, Taussig D, Valentin A, Wang H, Kahane P, George N, David O; F-TRACT consortium. Claude Adam, Vincent Navarro, Arnaud Biraben, Anca Nica, Dominique Menard, Milan Brazdil, Robert Kuba, Jitka Kočvarová, Martin Pail, Irena Doležalová, François Dubeau, Jean Gotman, Philippe Ryvlin, Jean Isnard, Hélène Catenoix, Alexandra Montavont, Sylvain Rheims, Fabrice Bartolomei, Agnès Trébuchon, Aileen McGonigal, Wenjing Zhou, Haixiang Wang, Sinclair Liu, Zhang Wei, Zhu Dan, Guo Qiang, Hu Xiangshu, Li Hua, Hua Gang, Wang Wensheng, Mei Xi, Feng Yigang, Rima Nabbout, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Mercedes Garcés, Antonio Valentin, Rinki Singh, Liisa Metsähonkala, Eija Gaily, Leena Lauronen, Maria Peltola, Francine Chassoux, Elizabeth Landré, Philippe Derambure, William Szurhaj, Maxime Chochois, Edouard Hirsch, Maria Paola Valenti, Julia Scholly, Luc Valton, Marie Denuelle, Jonathan Curot, Rodrigo Rocamora, Alessandro Principe, Miguel Ley, Ioana Mindruta, Andrei Barborica, Stefano Francione, Roberto Mai, Lino Nobili, Ivana Sartori, Laura Tassi, Louis Maillard, Jean-Pierre Vignal, Jacques Jonas, Louise Tyvaert, Mathilde Chipaux, Delphine Taussig, Philippe Kahane, Lorella Minotti, Anne-Sophie Job, Véronique Michel, Marie de Montaudoin, Jérôme Aupy, Viviane Bouilleret, Ana Maria Petrescu, Pascal Masnou, Claire Dussaule, Marion Quirins, Delphine Taussig, Carmen Barba, Renzo Guerrini, Matteo Lenge, Elisa Nacci
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations
2017 Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB
A developmental and genetic classification for malformations of cortical development
2005 Barkovich AJ; Kuzniecky RI; Jackson GD; Guerrini R; Dobyns WB
A developmental and genetic classification for malformations of cortical development: update 2012.
2012 Barkovich AJ; Guerrini R; Kuzniecky RI; Jackson GD; Dobyns WB
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
2010 Muhle H; Steinich I; von Spiczak S; Franke A; Weber Y; Lerche H; Wittig M; Heidemann S; Suls A; de Jonghe P; Marini C; Guerrini R; Scheffer IE; Berkovic SF; Stephani U; Siebert R; Sander T; Helbig I; Tönnies H.
A Multidisciplinary Approach to Early Detect Neurodegenerative Langerhans Cell Histiocytosis (ND-LCH) and Monitor Response to Intravenous Immunoglobulin (IVIG) Treatment
2016 Sieni, E; Afrifa, F; Barba, C; Romano, K; Mortilla, M; De Filippi, C; Rizzi, S; Favre, C; Guerrini, R
A multidisciplinary non-invasive approach to monitor response to intravenous immunoglobulin treatment in neurodegenerative Langerhans cell histiocytosis: a real-world study
2024 Trambusti, Irene; Barba, Carmen; Mortilla, Marzia; Rizzi, Susanna; Romano, Katiuscia; Coniglio, Maria Luisa; Lucenteforte, Ersilia; Tondo, Annalisa; Guerrini, Renzo; Sieni, Elena
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2
2004 Striano P; Chifari R; Striano S; de Fusco M; Elia M; Guerrini R; Casari G; Canevini MP
A new rapid micro-method for the Phenobarbital assay from dried blood spot by LC-Tandem Mass Spectrometry
2009 La Marca G; Malvagia S ; Filippi L; Luceri F; Moneti G; Guerrini R
A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC-tandem mass spectrometry
2009 la Marca G; Malvagia S; Filippi L; Luceri F; Moneti G; Guerrini R
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg)
2020 Casetta B.; Malvagia S.; Funghini S.; Martinelli D.; Dionisi-Vici C.; Barone R.; Fiumara A.; Donati M.A.; Guerrini R.; La Marca G.
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
2000 R. GUERRINI; SHANAHAN JL; CARROZZO R.; BONANNI P.; HIGGS DR; GIBBONS RJ
A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?
2015 Passamonti, Claudia; Petrelli, Cristina; Mei, Davide; Foschi, Nicoletta; Guerrini, Renzo; Provinciali, Leandro; Zamponi, Nelia
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up
2023 Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
2017 Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C
A pharmacokinetic study and correlation with clinical response of rufinamide in infants with epileptic encephalopathies.
2013 La Marca G; Rosati A; Falchi M; Malvagia S; Della Bona ML; Pellacani S; Guerrini R.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. | 2012 | Valvo G; Novara F; Brovedani P; Ferrari AR; Guerrini R; Zuffardi O; Sicca F | |
| 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 | |
| 7T MRI in focal epilepsy with unrevealing conventional field strength imaging | 2016 | DE CIANTIS, Alessio; Barba, Carmen; Tassi, Laura; Cosottini, Mirco; Tosetti, Michela; Costagli, Mauro; Bramerio, Manuela; Bartolini, Emanuele; Biagi, Laura; Cossu, Massimo; Pelliccia, Veronica; Symms, Mark R; Guerrini, Renzo | |
| A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation. | 2008 | Pramparo T; de Gregori M; Gimelli S; Ciccone R; Frondizi D; Liehr T; Pellacani S; Masi G; Brovedani P; Zuffardi O; Guerrini R. | |
| A brain atlas of axonal and synaptic delays based on modelling of cortico-cortical evoked potentials | 2022 | Lemaréchal JD, Jedynak M, Trebaul L, Boyer A, Tadel F, Bhattacharjee M, Deman P, Tuyisenge V, Ayoubian L, Hugues E, Chanteloup-Forêt B, Saubat C, Zouglech R, Reyes Mejia GC, Tourbier S, Hagmann P, Adam C, Barba C, Bartolomei F, Blauwblomme T, Curot J, Dubeau F, Francione S, Garcés M, Hirsch E, Landré E, Liu S, Maillard L, Metsähonkala EL, Mindruta I, Nica A, Pail M, Petrescu AM, Rheims S, Rocamora R, Schulze-Bonhage A, Szurhaj W, Taussig D, Valentin A, Wang H, Kahane P, George N, David O; F-TRACT consortium. Claude Adam, Vincent Navarro, Arnaud Biraben, Anca Nica, Dominique Menard, Milan Brazdil, Robert Kuba, Jitka Kočvarová, Martin Pail, Irena Doležalová, François Dubeau, Jean Gotman, Philippe Ryvlin, Jean Isnard, Hélène Catenoix, Alexandra Montavont, Sylvain Rheims, Fabrice Bartolomei, Agnès Trébuchon, Aileen McGonigal, Wenjing Zhou, Haixiang Wang, Sinclair Liu, Zhang Wei, Zhu Dan, Guo Qiang, Hu Xiangshu, Li Hua, Hua Gang, Wang Wensheng, Mei Xi, Feng Yigang, Rima Nabbout, Marie Bourgeois, Anna Kaminska, Thomas Blauwblomme, Mercedes Garcés, Antonio Valentin, Rinki Singh, Liisa Metsähonkala, Eija Gaily, Leena Lauronen, Maria Peltola, Francine Chassoux, Elizabeth Landré, Philippe Derambure, William Szurhaj, Maxime Chochois, Edouard Hirsch, Maria Paola Valenti, Julia Scholly, Luc Valton, Marie Denuelle, Jonathan Curot, Rodrigo Rocamora, Alessandro Principe, Miguel Ley, Ioana Mindruta, Andrei Barborica, Stefano Francione, Roberto Mai, Lino Nobili, Ivana Sartori, Laura Tassi, Louis Maillard, Jean-Pierre Vignal, Jacques Jonas, Louise Tyvaert, Mathilde Chipaux, Delphine Taussig, Philippe Kahane, Lorella Minotti, Anne-Sophie Job, Véronique Michel, Marie de Montaudoin, Jérôme Aupy, Viviane Bouilleret, Ana Maria Petrescu, Pascal Masnou, Claire Dussaule, Marion Quirins, Delphine Taussig, Carmen Barba, Renzo Guerrini, Matteo Lenge, Elisa Nacci | |
| A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations | 2017 | Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, O'Driscoll-Collins A, Berkovic SF, Scheffer IE, Poduri A, Mei D, Guerrini R, Lowenstein DH, Allen AS, Heinzen EL, Goldstein DB | |
| A developmental and genetic classification for malformations of cortical development | 2005 | Barkovich AJ; Kuzniecky RI; Jackson GD; Guerrini R; Dobyns WB | |
| A developmental and genetic classification for malformations of cortical development: update 2012. | 2012 | Barkovich AJ; Guerrini R; Kuzniecky RI; Jackson GD; Dobyns WB | |
| A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy | 2010 | Muhle H; Steinich I; von Spiczak S; Franke A; Weber Y; Lerche H; Wittig M; Heidemann S; Suls A; de Jonghe P; Marini C; Guerrini R; Scheffer IE; Berkovic SF; Stephani U; Siebert R; Sander T; Helbig I; Tönnies H. | |
| A Multidisciplinary Approach to Early Detect Neurodegenerative Langerhans Cell Histiocytosis (ND-LCH) and Monitor Response to Intravenous Immunoglobulin (IVIG) Treatment | 2016 | Sieni, E; Afrifa, F; Barba, C; Romano, K; Mortilla, M; De Filippi, C; Rizzi, S; Favre, C; Guerrini, R | |
| A multidisciplinary non-invasive approach to monitor response to intravenous immunoglobulin treatment in neurodegenerative Langerhans cell histiocytosis: a real-world study | 2024 | Trambusti, Irene; Barba, Carmen; Mortilla, Marzia; Rizzi, Susanna; Romano, Katiuscia; Coniglio, Maria Luisa; Lucenteforte, Ersilia; Tondo, Annalisa; Guerrini, Renzo; Sieni, Elena | |
| A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 | 2004 | Striano P; Chifari R; Striano S; de Fusco M; Elia M; Guerrini R; Casari G; Canevini MP | |
| A new rapid micro-method for the Phenobarbital assay from dried blood spot by LC-Tandem Mass Spectrometry | 2009 | La Marca G; Malvagia S ; Filippi L; Luceri F; Moneti G; Guerrini R | |
| A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC-tandem mass spectrometry | 2009 | la Marca G; Malvagia S; Filippi L; Luceri F; Moneti G; Guerrini R | |
| A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) | 2020 | Casetta B.; Malvagia S.; Funghini S.; Martinelli D.; Dionisi-Vici C.; Barone R.; Fiumara A.; Donati M.A.; Guerrini R.; La Marca G. | |
| A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. | 2000 | R. GUERRINI; SHANAHAN JL; CARROZZO R.; BONANNI P.; HIGGS DR; GIBBONS RJ | |
| A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit? | 2015 | Passamonti, Claudia; Petrelli, Cristina; Mei, Davide; Foschi, Nicoletta; Guerrini, Renzo; Provinciali, Leandro; Zamponi, Nelia | |
| A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up | 2023 | Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini | |
| A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations | 2017 | Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C | |
| A pharmacokinetic study and correlation with clinical response of rufinamide in infants with epileptic encephalopathies. | 2013 | La Marca G; Rosati A; Falchi M; Malvagia S; Della Bona ML; Pellacani S; Guerrini R. |