Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Gianluca Casara"'
Autor:
Gianluca Casara, Francesco Benedicenti, Andrew A. Hicks, André Heimbach, Francisco S. Domingues, Peter Lackner, Anne Picard, Lucio Parmeggiani, Per Hoffmann, Claudia B. Volpato, Deborah Mascalzoni, Christine Schwienbacher, Franco Stanzial, Eva König, Peter P. Pramstaller, Chiara Cantaloni, Serena Pellegrin
Purpose Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early onset epilepsy, intellectual
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f207dd0845127c31e2b6a3465469c9
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021
Autor:
Patrizia Accorsi, Maria Luisa Carpanelli, Cinzia Peruzzi, Laura Mastella, Massimo Mastrangelo, Annalisa Traverso, Augusta Janes, Luisa Grazian, Agnese Suppiej, Bernardo Dalla Bernardina, Gianluca Casara
Background Neonatal seizures are a risk factor for later epilepsy and their etiology is known to be implicated in the outcome but, little is known about this issue in the subgroup of seizures symptomatic of perinatal arterial ischemic stroke. The aim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0acc88cdcad9549cdc0e513080a79b3f
http://hdl.handle.net/11392/2387923
http://hdl.handle.net/11392/2387923
Autor:
Marco Angriman, Hannah Stamberger, Rikke S. Møller, Judith Phalin, Lucio Giordano, Leonardo Zoccante, Gaetano Cantalupo, Henrike O. Heyne, Monica Lodi, Ina Schanze, Steffen Syrbe, Marjolein H. Willemsen, Valérie Benoit, Pasquale Striano, Maurizio Viri, Markus Wolff, Joerg Klepper, Hartmut Baier, Corrie E. Erasmus, Marie Deprez, Patrizia Accorsi, Helene Verhelst, Sarah Weckhuysen, Marwan Shinawi, Giuseppe Capovilla, Rudy Van Coster, Almuth Caliebe, Hiltrud Muhle, Peter Uldall, Johannes R. Lemke, Katherine L. Helbig, Susan Winter, Roar Fjær, Ira Benkel-Herrenbrueck, Gerhard Kluger, Robertino Dilena, Gianluca Casara, Nina Michelberger, Carolina Courage, Peter De Jonghe, Ingo Helbig, Mauro Budetta, Andreas Tzschach, Kristel Sleegers, Andreas Merkenschlager, Oliver Maier, Katalin Sterbova, Anne Destree, Carlo Minetti, Antonino Romeo, Marina Nikanorova, Madeleine Fannemel, Martin Zenker, Keri Ramsey, Damien Lederer, Monica Traverso, Jens Schallner
Publikováno v:
Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457
Neurology, 86, 10, pp. 954-62
Stamberger, H, Nikanorova, M, Willemsen, M H, Accorsi, P, Angriman, M, Baier, H, Benkel-Herrenbrueck, I, Benoit, V, Budetta, M, Caliebe, A, Cantalupo, G, Capovilla, G, Casara, G, Courage, C, Deprez, M, Destrée, A, Dilena, R, Erasmus, C E, Fannemel, M, Fjær, R, Giordano, L, Helbig, K L, Heyne, H O, Klepper, J, Kluger, G J, Lederer, D, Lodi, M, Maier, O, Merkenschlager, A, Michelberger, N, Minetti, C, Muhle, H, Phalin, J, Ramsey, K, Romeo, A, Schallner, J, Schanze, I, Shinawi, M, Sleegers, K, Sterbova, K, Syrbe, S, Traverso, M, Tzschach, A, Uldall, P, Van Coster, R, Verhelst, H, Viri, M, Winter, S, Wolff, M, Zenker, M, Zoccante, L, De Jonghe, P, Helbig, I, Striano, P, Lemke, J R, Møller, R S & Weckhuysen, S 2016, ' STXBP1 encephalopathy : A neurodevelopmental disorder including epilepsy ', Neurology, vol. 86, no. 10, pp. 954-962 . https://doi.org/10.1212/WNL.0000000000002457
Neurology, 86, 954-62
Neurology
Neurology, 86, 10, pp. 954-62
Stamberger, H, Nikanorova, M, Willemsen, M H, Accorsi, P, Angriman, M, Baier, H, Benkel-Herrenbrueck, I, Benoit, V, Budetta, M, Caliebe, A, Cantalupo, G, Capovilla, G, Casara, G, Courage, C, Deprez, M, Destrée, A, Dilena, R, Erasmus, C E, Fannemel, M, Fjær, R, Giordano, L, Helbig, K L, Heyne, H O, Klepper, J, Kluger, G J, Lederer, D, Lodi, M, Maier, O, Merkenschlager, A, Michelberger, N, Minetti, C, Muhle, H, Phalin, J, Ramsey, K, Romeo, A, Schallner, J, Schanze, I, Shinawi, M, Sleegers, K, Sterbova, K, Syrbe, S, Traverso, M, Tzschach, A, Uldall, P, Van Coster, R, Verhelst, H, Viri, M, Winter, S, Wolff, M, Zenker, M, Zoccante, L, De Jonghe, P, Helbig, I, Striano, P, Lemke, J R, Møller, R S & Weckhuysen, S 2016, ' STXBP1 encephalopathy : A neurodevelopmental disorder including epilepsy ', Neurology, vol. 86, no. 10, pp. 954-962 . https://doi.org/10.1212/WNL.0000000000002457
Neurology, 86, 954-62
Neurology
Contains fulltext : 168130.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab9896adc501573a289264812f0af57
https://doi.org/10.1212/WNL.0000000000002457
https://doi.org/10.1212/WNL.0000000000002457
Autor:
Maurizio Taglialatela, Anna Guacci, Maria Virginia Soldovieri, Paolo Ambrosino, Gianluca Casara, Marilena Vecchi, Ilaria Mosca, Francesca Rizzo, Laura Manocchio, Giovanna Marchese, Giangennaro Coppola, Teresa Rocco, Massimiliano Chetta, Alessandro Weisz
The KCNT1 gene encodes for subunits contributing to the Na(+)-activated K(+) current (KNa), expressed in many cell types. Mutations in KCNT1 have been found in patients affected with a wide spectrum of early-onset epilepsies, including Malignant Migr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ac229c0829c8a71a74d72921e180dd
http://hdl.handle.net/11588/668117
http://hdl.handle.net/11588/668117
Autor:
Flavia Prodam, Simonetta Bellone, Anna Rapa, Gianni Bona, Gianluca Casara, Erica C. Grassino, Ilaria Bonsignori, Giorgio Radetti, Irene Demarchi, Francesca De Rienzo
Publikováno v:
Epilepsia. 51(2)
A relationship between ghrelin and epilepsy has been already shown in humans, although the results are controversial. Ghrelin levels are reduced in obesity. Epileptic patients progressively develop a therapy-linked weight gain; however, the mechanism
Autor:
Giovanni Montini, Agnese Suppiej, Franco Zacchello, G. B. Pozzan, Gianluca Casara, Graziella Zacchello, Clementina Boniver
Publikováno v:
Braindevelopment. 13(4)
Neurophysiological studies have shown defects in peripheral conduction in up to 75% of adults with end-stage renal disease (ESRD), though abnormalities of central conduction seem more variable. There are no comparable pediatric data. We therefore mea
Autor:
Gianluca Casara, Paola Logo, Sabrina Salvadori, Angela Fiore, Sabrina Bordignon, Nadia Battajon, O. Sergio Saia
Publikováno v:
Pediatric Research. 35:281-281
The purpose of this study is to better define seizure activity and to make anticonvulsant therapy optimal. During a period of 4.5 years, 57 infants with clinical evident seizures underwent continuous EEG monitoring (C.F.M., Device Instrument, Ltd, Lo
Autor:
GianLuca Casara, Antonio Fortunato, Firmino F. Rubaltelli, Gianpietro Semenzato, Annalisa Piovesan, Paolo Colleselli, Bruno Granati
The lymphoproliferative response to phytohemagglutinin of lymphocytes and spontaneous motility, chemotaxis and phagocytic activity of granulocytes were studied in the newborn and adult blood in the presence of bilirubin and photobilirubin. All of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64a205d90761e20be98b6ca3c7db4b1c
http://hdl.handle.net/11577/2509772
http://hdl.handle.net/11577/2509772
Autor:
Daniela Olivotto, Gianluca Casara, Agnese Suppiej, M. Cavinato, I. Pitassi, Pier Antonio Battistella, Franco Zacchello
Publikováno v:
Headache. 28(3)
SYNOPSIS Brainstem auditory evoked potentials (BAEPs) were recorded in pain-free periods in 28 children suffering from migraine (23 common and 5 classic). They were without medication for at least one month before there cording session. The results w
Publikováno v:
Pediatric Research. 14:170-170
The effect of bilirubin and phototreated bilirubin (10 mg/dl) on granulocytes (PMN) was studied "in vitro" utilizing the activity of the hexose-monophosphate shunt as an indirect index of granulocyte metabolic activity and, therefore, of its phagocyt