Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Giovanni, Crichiutti"'
Autor:
Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo, Dania Ferino, Manuela Zanatta, Antonella Boni, Luisa Antonini, Giovanni Crichiutti, Bruno Bembi
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100678- (2020)
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the acid β-glucosidase encoding gene (GBA1), resulting in the deficient activity of acid β-glucosidase (GCase). To date, there is no approved treatment
Externí odkaz:
https://doaj.org/article/c76429547ea544bda01a8f9b7b7c690e
Autor:
Laura Lancella, Susanna Esposito, Maria Luisa Galli, Elena Bozzola, Valeria Labalestra, Elena Boccuzzi, Andrzej Krzysztofiak, Laura Cursi, Guido Castelli Gattinara, Nadia Mirante, Danilo Buonsenso, Claudia Tagliabue, Luca Castellazzi, Carlotta Montagnani, Chiara Tersigni, Piero Valentini, Michele Capozza, Davide Pata, Maria Di Gangi, Piera Dones, Silvia Garazzino, Luca Baroero, Alberto Verrotti, Maria Luisa Melzi, Michele Sacco, Michele Germano, Filippo Greco, Elena Uga, Giovanni Crichiutti, Alberto Villani
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-10 (2017)
Abstract Background Acute cerebellitis (AC) and acute cerebellar ataxia (ACA) are the principal causes of acute cerebellar dysfunction in childhood. Nevertheless. there is no accepted consensus regarding the best management of children with AC/ACA: t
Externí odkaz:
https://doaj.org/article/9d9aadfa565b46d7a8ee936dd4acfb5e
Autor:
Margherita Nosadini, Michael Eyre, Thea Giacomini, Massimiliano Valeriani, Marida Della Corte, Andrea D. Praticò, Pietro Annovazzi, Ramona Cordani, Duccio Maria Cordelli, Giovanni Crichiutti, Gabriella Di Rosa, Valentina Dolcemascolo, Anna Fetta, Elena Freri, Paolo Gallo, Matteo Gastaldi, Tiziana Granata, Luisa Grazian, Raffaele Iorio, Martina Lombardini, Monica Margoni, Sara Mariotto, Sara Matricardi, Federico Melani, Nardo Nardocci, Laura Papetti, Alice Passarini, Francesco Pisani, Chiara Po', Marco Puthenparampil, Francesca Ragona, Salvatore Savasta, Sabrina Siliquini, Irene Toldo, Alessandra Tozzo, Emanuela Claudia Turco, Antonio Varone, Alberto Vogrig, Luigi Zuliani, Samuela Bugin, Sara Rossato, Alessandro Orsini, Gaetano Cantalupo, Maria Margherita Mancardi, Michela Ada Noris Ferilli, Thomas Foiadelli, Stefano Sartori
Background and ObjectivesWe sought to identify early factors associated with relapse and outcome in paediatric-onset myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).MethodsIn a multicenter retrospective cohort of pediatric M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121c56b1d1a53ec7ec33234f017e16b0
https://hdl.handle.net/11577/3466751
https://hdl.handle.net/11577/3466751
Autor:
Marta Maschio, Ettore Beghi, Marina M L Casazza, Gabriella Colicchio, Cinzia Costa, Paola Banfi, Stefano Quadri, Paolo Aloisi, Anna Teresa Giallonardo, Carla Buttinelli, Giada Pauletto, Salvatore Striano, Andrea Salmaggi, Riccardo Terenzi, Ornella Daniele, Giovanni Crichiutti, Francesco Paladin, Rosario Rossi, Giulia Prato, Federico Vigevano, Roberto De Simone, Federica Ricci, Marina Saladini, Fabrizio Monti, Susanna Casellato, Tiziano Zanoni, Diana Giannarelli, Giuliano Avanzini, Umberto Aguglia, BTRE Study Group
Publikováno v:
PLoS ONE, Vol 12, Iss 7, p e0180470 (2017)
Epilepsy is the most common comorbidity in patients with brain tumors.To define characteristics of brain tumor-related epilepsy (BTRE) patients and identify patterns of care. Nationwide, multicenter retrospective cohort study. Medical records of BTRE
Externí odkaz:
https://doaj.org/article/834919796e4a4e449b4053d9aee6278f
Autor:
Carlo Cianchetti, Elisa Bianchi, Renzo Guerrini, Maria Giuseppina Baglietto, 1, Marilena Briguglio, Simona Cappelletti, Susanna Casellato, Giovanni Crichiutti, Rosa Lualdi, Lucia Margari, Antonino Romeo, Ettore Beghi, TASCA Study Group, Antonia Parmeggiani
Publikováno v:
Epilepsy & Behavior. 79:146-153
Introduction We studied children and adolescents with epilepsy (CAWE) and their families to evaluate symptoms of anxiety and depression, quality of life (QoL), and their correlations with epilepsy characteristics. Material and methods The study inclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6ba778ae63eaf5621404c8537df86c
https://doi.org/10.1016/j.yebeh.2017.11.030
https://doi.org/10.1016/j.yebeh.2017.11.030
Autor:
Sawan Kumar Jha, Tuomas Sipilä, Marie Ravoet, Donatella Angelone, Angela D’Elia, Matthieu J. Schlögel, Harri Elamaa, Giovanni Crichiutti, Veerle Labarque, Claudia Luzzatto, Jaakko Kuurne, Miikka Vikkula, Elodie Fastré, Emilia A. Korhonen, Kari Alitalo, Veli-Matti Leppänen, Nicole Revencu, Amihood Singer, Gou Young Koh, Pipsa Saharinen, Pascal Brouillard
Publikováno v:
Science Translational Medicine
Science translational medicine, Vol. 12, no. 560, p. eaax8013 [1-11] (2020)
Science translational medicine, Vol. 12, no. 560, p. eaax8013 [1-11] (2020)
Lymphedema can occur when tissue fluid cannot enter or leaks from the lymphatic system into surrounding tissues. Some genetic causes of primary lymphedema are known, but these currently explain a minority of cases. Previous studies have shown that do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92fd6b2318b488eeeeafe9148c5b475e
https://doi.org/10.1126/scitranslmed.aax8013
https://doi.org/10.1126/scitranslmed.aax8013
Autor:
Roberto Dilena, Francesca Bisulli, Sara Baldassari, Pasquale Striano, Barbara Mostacci, Federica Provini, Carla Marini, Antonio Gambardella, Paolo Tinuper, Margherita Santucci, Tommaso Pippucci, Stefano Meletti, Amedeo Bianchi, Raffaella Minardi, Giovanni Crichiutti, Eleonora Briatore, Aglaia Vignoli, Lucio Giordano, Giuseppe Plazzi, Laura Licchetta
Purpose Genetics of Sleep-related Hypermotor Epilepsy (SHE) includes mutations in several genes that cumulatively account for 30 % of families. This approximate estimate comes from different case-series, each focused on the screening of a single gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ab344547bb98ac5825ee3ad39dd77a
http://www.elsevier.com/inca/publications/store/6/2/3/0/7/1/index.htt
http://www.elsevier.com/inca/publications/store/6/2/3/0/7/1/index.htt
Autor:
Giorgia Giussani, Gabriele Enia, Elisa Bianchi, Oriano Mecarelli, Ettore Beghi, Patrizia Pulitano, Claudia Cagnetti, Sara Baldinelli, Simona Lattanzi, Angela La Neve, Maria Tappatà, Teresa Francavilla, Giovanni De Maria, Vito Sofia, Loretta Giuliano, Greta Mainieri, Daniela Fatuzzo, Vincenzo Belcastro, Maurizio Elia, Giuseppe D'Orsi, Alessandra Lalla, Andrea Salmaggi, Francesco Brigo, Adriana Magaudda, Francesco Pisani, Santi Galletta, Laura R. Pisani, Massimo Raffaele, Domenico Cosenza, Flavio S. Villani, Rui M.M. Quintas, Rosa Cervellione, Simona Borroni, Stefano Meletti, Carlo Ferrarese, Giuseppina Barbella, Jacopo Di Francesco, Graziella Bogliun, Simone Beretta, Carlo A. Galimberti, Teresa A. Cantisani, Michela Cecconi, Maria G. Celani, Rossella Papetti, Filippo S. Giorgi, Umberto Aguglia, Sara Gasparini, Edoardo Ferlazzo, Paolo Manganotti, Giovanni Crichiutti, Giulia Bravar
Purpose The purpose of this study was to assess the priorities of patients with epilepsy and caring physicians and the correspondence between these priorities. Methods In this multicenter cross-sectional study, patients with epilepsy attending 21 Ita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::914980beb02c0c4d33e1591f5a50b2ed
https://hdl.handle.net/11368/2954731
https://hdl.handle.net/11368/2954731
Autor:
Priscilla Boizeau, Luigi Titomanlio, Daniele Spiri, Giovanni Crichiutti, Davide Massano, Camille Aupiais, Corinne Alberti, Véronique Houdouin, Stéphanie Wanin, Silvia Romanello, Raffaella Moretti, Lakshmi Kanagarajah, Gian Vincenzo Zuccotti
Publikováno v:
Headache: The Journal of Head and Face Pain. 57:612-624
Background Migraine is a common cause of headache in childhood. Several studies have investigated the association between migraine and atopic diseases, mostly in the adult population. Objective This study aimed to investigate this association in chil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c26e228d8e5d461a20320f6680a4b76
https://doi.org/10.1111/head.13032
https://doi.org/10.1111/head.13032
Autor:
Johannes R. Lemke, Thomas Dorn, Laura Hernandez-Hernandez, Giuseppe d'Orsi, Eveline Hagebeuk, Annapurna Poduri, Douglas R. NordliJr, Hélène Catenoix, Melanie Jennesson, Veronique Darmency, Kevin Rostasy, Thomas Becher, Laura Licchetta, Peter Uldall, Lysa Boissé Lomax, Bianca Berghuis, Ilona Krey, Gaetan Lesca, Anne de Saint Martin, Boudewijn Gunning, Anne Fabienne Lepine, Renske Oegema, Brigitte Ricard-Mousnier, Sarah Ferrand-Sorbets, Arnaud Biraben, Charles Deckers, An Sofie Schoonjans, Martin Zenker, Simona Balestrini, Inga Talvik, Julitta de Bellescize, Christopher J. Yuskaitis, Georg Dorfmüller, Erik H. Niks, Guillaume Achaz, Laurence Faivre, Pasquale Striano, Shifteh Sattar, Karen Müller-Schlüter, Sanjay M. Sisodiya, Caroline Nava, Pia Zacher, Fabrice Bartolomei, Kristin Lindstrom, Sophie Julia, Eric LeGuern, Thomas Cloppenborg, Rikke S. Møller, Antonio Gambardella, Mathilde Chipaux, Sara Baldassari, Pavel Krsek, Marie Line Jacquemont, Ilse Wegner, Christian Brandt, Barbora Benova, Valerio Conti, Gabrielle Rudolf, Floor E. Jansen, Edouard Hirsch, S. Krithika, Jamel Chelly, Katrien Stouffs, Daniëlle de Jong, Courtney Kiss, Tilman Polster, Eva H. Brilstra, Tommaso Pippucci, Markus Wolff, Cécile Marchal, Giovanni Crichiutti, Kees P.J. Braun, Paolo Tinuper, Stéphanie Baulac, Valentin Sander, Anne-Sophie Lebre, Nienke E. Verbeek, Anna Jansen, Francesca Bisulli, Fabienne Picard, Natasha E. Schoeler, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Sarah Weckhuysen, Renzo Guerrini, Eleni Panagiotakaki, Meral Balci
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, Nature Publishing Group, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
Genetics in Medicine, 2019, 21 (8), pp.1896-1896. ⟨10.1038/s41436-018-0325-9⟩
International audience; The original version of this article contained an error in the spelling of the author Erik H. Niks, which was incorrectly given as Erik Niks. This has now been corrected in both the PDF and HTML versions of the article.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7062443bf253f4f526ef6123c65feb
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02066352
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02066352