Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Benedetta Terragni"'
Autor:
Valentina Alari, Silvia Russo, Benedetta Terragni, Paola Francesca Ajmone, Alessandra Sironi, Ilaria Catusi, Luciano Calzari, Daniela Concolino, Rosa Marotta, Donatella Milani, Daniela Giardino, Massimo Mantegazza, Cristina Gervasini, Palma Finelli, Lidia Larizza
Publikováno v:
Stem Cell Research, Vol 30, Iss , Pp 130-140 (2018)
Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREB
Externí odkaz:
https://doaj.org/article/f48d67991ebf4b13aa42cfc66db43e4f
Autor:
Valentina Alari, Paolo Scalmani, Paola Francesca Ajmone, Sara Perego, Sabrina Avignone, Ilaria Catusi, Paola Adele Lonati, Maria Orietta Borghi, Palma Finelli, Benedetta Terragni, Massimo Mantegazza, Silvia Russo, Lidia Larizza
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5777 (2021)
Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder caused by mutations in CREBBP or EP300 genes encoding CBP/p300 lysine acetyltransferases. We investigated the efficacy of the histone deacetylase inhibitor (HDACi) Trichostatin A
Externí odkaz:
https://doaj.org/article/535d992f8ef84e6b9c14a25c6a190628
Autor:
Tobias M. Boeckers, Chiara Verpelli, Ersilia Vinci, Massimo Mantegazza, Vania Broccoli, Alessandro Sessa, Paolo Scalmani, Benedetta Terragni, Lorenza Culotta
Publikováno v:
Journal of Neuroscience
Journal of Neuroscience, Society for Neuroscience, 2020, 40 (37), pp.7013-7026. ⟨10.1523/JNEUROSCI.2194-19.2020⟩
The journal of neuroscience 40(37), 7013-7026 (2020). doi:10.1523/JNEUROSCI.2194-19.2020
J Neurosci
Journal of Neuroscience, Society for Neuroscience, 2020, 40 (37), pp.7013-7026. ⟨10.1523/JNEUROSCI.2194-19.2020⟩
The journal of neuroscience 40(37), 7013-7026 (2020). doi:10.1523/JNEUROSCI.2194-19.2020
J Neurosci
Sulfotransferase 4A1 (SULT4A1) is a cytosolic sulfotransferase that is highly conserved across species and extensively expressed in the brain. However, the biological function of SULT4A1 is unclear. SULT4A1 has been implicated in several neuropsychia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3fd345cc27faa96a4807fe785c38e6a
https://hal.archives-ouvertes.fr/hal-03011735
https://hal.archives-ouvertes.fr/hal-03011735
Publikováno v:
Neuropharmacology. 110:223-236
Voltage-gated Na(+) channels (NaV) are involved in pathologies and are important targets of drugs (NaV-blockers), e.g. some anti-epileptic drugs (AEDs). Besides the fast inactivating transient Na(+) current (INaT), they generate a slowly inactivating
Autor:
Giulia Regalia, Paola Cavalcante, Marco Rasponi, Benedetta Terragni, Ludovico Minati, Giovanni Stefano Ugolini, Giulia Bechi, Stefania Marcuzzo, Massimo Mantegazza, Pia Bernasconi, Natsue Yoshimura, Davide Isaia, Silvia Bonanno, Ambra Rizzo, Renato Mantegazza, Emilio Ciusani, Cristina Cappelletti
Publikováno v:
Neuroscience
Neuroscience, Elsevier-International Brain Research Organization, 2019, 416, pp.88-99. ⟨10.1016/j.neuroscience.2019.07.041⟩
Neuroscience, Elsevier-International Brain Research Organization, 2019, 416, pp.88-99. ⟨10.1016/j.neuroscience.2019.07.041⟩
International audience; Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting the corticospinal tract and leading to motor neuron death. According to a recent study, magnetic resonance imaging-visible changes suggestive of neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99f5da82975e366119c255889c713183
https://hal.archives-ouvertes.fr/hal-02560551
https://hal.archives-ouvertes.fr/hal-02560551
Autor:
Benedetta Terragni, Massimo Mantegazza, Alessandro Sessa, Chiara Verpelli, Lorenza Culotta, Vania Broccoli, Ersilia Vinci
Sulfotransferase 4A1 (SULT4A1) is a cytosolic sulfotransferase, that is highly conserved across species and extensively expressed in the brain. However, the biological function of SULT4A1 is unclear. SULT4A1 has been implicated in several neuropsychi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f204453b5a8f73b613e26dcc1b6631
https://doi.org/10.1101/583419
https://doi.org/10.1101/583419
Autor:
Raina Sota, Raffaele A. Calogero, Krystyna H. Chrzanowska, Silvana Franceschetti, Matteo Dugo, Michela Restelli, Massimo Mantegazza, Patrizia Gasparini, Benedetta Terragni, Domenico Delia, Daniele Lecis, Alessandro Corti
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), pp.1-13. ⟨10.1038/s41598-018-36912-0⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reports, Nature Publishing Group, 2019, 9 (1), pp.1-13. ⟨10.1038/s41598-018-36912-0⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Ataxia Telangiectasia (A-T) is neurodegenerative syndrome caused by inherited mutations inactivating the ATM kinase, a master regulator of the DNA damage response (DDR). What makes neurons vulnerable to ATM loss remains unclear. In this study we asse
Autor:
Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Edoardo Ferlazzo, Carlo di Bonaventura, Angela La Neve, Paolo Tinuper, Francesca Bisulli, Aglaia Vignoli, Giuseppe Capovilla, Giovanni Crichiutti, Antonio Gambardella, Vincenzo Belcastro, Amedeo Bianchi, Destina Yalçın, Gulsen Dizdarer, Kezban Arslan, Zuhal Yapıcı, Demet Kuşcu, Costin Leu, Kristin Heggeli, Joseph Willis, Sarah R Langley, Andrea Jorgensen, Prashant Srivastava, Sarah Rau, Christian Hengsbach, Anja C.M. Sonsma
Publikováno v:
The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2a7ebc4483d5ba5e9aac0991ff234c
https://hal.archives-ouvertes.fr/hal-02352036
https://hal.archives-ouvertes.fr/hal-02352036
Autor:
Daniela Concolino, Silvia Russo, Palma Finelli, Daniela Giardino, Valentina Alari, Benedetta Terragni, Ilaria Catusi, A. Sironi, Luciano Calzari, Paola Francesca Ajmone, Cristina Gervasini, Rosa Marotta, Massimo Mantegazza, Donatella Milani, Lidia Larizza
Publikováno v:
Stem Cell Research
Stem Cell Research, Elsevier, 2018, 30, pp.130-140. ⟨10.1016/j.scr.2018.05.019⟩
Stem Cell Research, Vol 30, Iss, Pp 130-140 (2018)
Stem Cell Research, Elsevier, 2018, 30, pp.130-140. ⟨10.1016/j.scr.2018.05.019⟩
Stem Cell Research, Vol 30, Iss, Pp 130-140 (2018)
Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d134a9b6b1f9b2cd7877e014bece4a10
https://hal.archives-ouvertes.fr/hal-02562805
https://hal.archives-ouvertes.fr/hal-02562805
Autor:
Patrick, May, Simon, Girard, Merle, Harrer, Dheeraj R, Bobbili, Julian, Schubert, Stefan, Wolking, Felicitas, Becker, Pamela, Lachance-Touchette, Caroline, Meloche, Micheline, Gravel, Cristina E, Niturad, Julia, Knaus, Carolien, De Kovel, Mohamad, Toliat, Anne, Polvi, Michele, Iacomino, Rosa, Guerrero-López, Stéphanie, Baulac, Carla, Marini, Holger, Thiele, Janine, Altmüller, Kamel, Jabbari, Ann-Kathrin, Ruppert, Wiktor, Jurkowski, Dennis, Lal, Raffaella, Rusconi, Sandrine, Cestèle, Benedetta, Terragni, Ian D, Coombs, Christopher A, Reid, Pasquale, Striano, Hande, Caglayan, Auli, Siren, Kate, Everett, Rikke S, Møller, Helle, Hjalgrim, Hiltrud, Muhle, Ingo, Helbig, Wolfram S, Kunz, Yvonne G, Weber, Sarah, Weckhuysen, Peter De, Jonghe, Sanjay M, Sisodiya, Rima, Nabbout, Silvana, Franceschetti, Antonietta, Coppola, Maria S, Vari, Dorothée, Kasteleijn-Nolst Trenité, Betul, Baykan, Ugur, Ozbek, Nerses, Bebek, Karl M, Klein, Felix, Rosenow, Dang K, Nguyen, François, Dubeau, Lionel, Carmant, Anne, Lortie, Richard, Desbiens, Jean-François, Clément, Cécile, Cieuta-Walti, Graeme J, Sills, Pauls, Auce, Ben, Francis, Michael R, Johnson, Anthony G, Marson, Bianca, Berghuis, Josemir W, Sander, Andreja, Avbersek, Mark, McCormack, Gianpiero L, Cavalleri, Norman, Delanty, Chantal, Depondt, Martin, Krenn, Fritz, Zimprich, Sarah, Peter, Marina, Nikanorova, Robert, Kraaij, Jeroen, van Rooij, Rudi, Balling, M Arfan, Ikram, André G, Uitterlinden, Giuliano, Avanzini, Stephanie, Schorge, Steven, Petrou, Massimo, Mantegazza, Thomas, Sander, Eric, LeGuern, Jose M, Serratosa, Bobby P C, Koeleman, Aarno, Palotie, Anna-Elina, Lehesjoki, Michael, Nothnagel, Peter, Nürnberg, Snezana, Maljevic, Federico, Zara, Patrick, Cossette, Roland, Krause, Holger, Lerche, Anja C M, Sonsma
Publikováno v:
The Lancet. Neurology. 17(8)
Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in