Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Anna Luchetti"'
Autor:
Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta
Publikováno v:
Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
Autor:
Angelo Russo, Giangennaro Coppola, Nicola Specchio, P. De Liso, R Guerrini, L. Giordano, Anna Luchetti, Anna Rosati, Dario Pruna, Nelia Zamponi, Salvatore Grosso, L. De Palma, Giuseppe Gobbi, Paola Martelli, Raffaella Cusmai, Federico Vigevano, S. Siliquini, Pasquale Parisi, Francesco Nicita, Alberto Verrotti, Giuseppe Capovilla, Belcastro, Alberto Spalice, Paolo Bonanni, Francesca Beccaria, Oliviero Bruni, Lucrezia Ilvento, E. Osanni, Pasquale Striano
Publikováno v:
Epilepsia. 57:3-5
Autor:
Salvatore Grosso, Pasquale Parisi, Francesco Nicita, Alberto Verrotti, Giuseppe Capovilla, Giangennaro Coppola, L. Giordano, Dario Pruna, Pasquale Striano, Federico Vigevano, S. Siliquini, E. Osanni, Oliviero Bruni, L. De Palma, Anna Luchetti, Giuseppe Gobbi, Paolo Bonanni, Alberto E. Tozzi, Vincenzo Belcastro, Maria Stella Vari, Alberto Spalice, Francesca Beccaria, Nelia Zamponi, Angelo Russo, Anna Rosati, Nicola Specchio, Raffaella Cusmai, P. De Liso, Paola Martelli, Renzo Guerrini, Lucrezia Ilvento
To evaluate the efficacy and tolerability of Perampanel (PER) in children and adolescents with refractory epilepsies in daily clinical practice conditions.This Italian multicenter retrospective observational study was performed in 16 paediatric epile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf6a468eeb13769aa9162c9ec0921fd
http://hdl.handle.net/11567/855353
http://hdl.handle.net/11567/855353
Autor:
Silvia Miano, Pasquale Parisi, Oliviero Bruni, Maria Pia Villa, Alberto Verrotti, Anna Luchetti, Paolo Curatolo
Publikováno v:
Developmental Medicine & Child Neurology. 52:805-810
Aim The purpose of this review was to examine the possible pathophysiological links between epilepsy, cognition, sleep macro- and microstructure, and sleep disorders to highlight the contributions and interactions of sleep and epilepsy on cognitive f
Autor:
Maurizio Viri, Maurizio Elia, Silvia Cappanera, Alberto Verrotti, Christine Janello, Anna Luchetti, Salvatore Savasta, Emilio Franzoni, Pasquale Striano, Giangennaro Coppola, Gerhard Kluger, Nelia Zamponi, Salvatore Grosso, Paolo Aloisi, Alberto Spalice, Antonella Pizzolorusso, Paolo Curatolo, Raffaella Cusmai, Giulia Loiacono, Oliviero Bruni, Giuseppe Gobbi, Antonino Romeo, Piero Pavone, Alessandro Ferretti, Pasquale Parisi
PURPOSE: This multicenter, prospective study investigates the efficacy and safety of lacosamide adjunctive therapy in pediatric and adult patients with uncontrolled epilepsy. METHOD: This study was carried out between September 2010 and December 2011
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b7e5c2832028a277b289ee9185e36c2
http://hdl.handle.net/11391/1230024
http://hdl.handle.net/11391/1230024
Restless legs syndrome (RLS) is a common pediatric neurologic condition affecting 2–4% of children and adolescents [1] with significant impact on sleep and health [2]. Early manifestations of RLS, such as disorders of initiating and maintaining sle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7cc640ada496bc9518ef151c2cdd5f
http://hdl.handle.net/11573/837774
http://hdl.handle.net/11573/837774
Autor:
Pasquale Parisi, Silvia Miano, Maria Chiara Paolino, Anna Luchetti, A. Pelliccia, Maria Pia Villa
Publikováno v:
Neurological Sciences. 29:285-287
We designed a 3-month open label trial of melatonin prophylaxis in children with primary headache. After a one month baseline period without receiving preventive drugs, all children received a 3-month course of melatonin, 3 mg, administered orally, a
Autor:
Raffaele Ferri, MariaPia Villa, Oliviero Bruni, Luana Novelli, Anna Luchetti, Marta Meloni, Manuela Cecili, Marcin Zarowski
Objective To analyze sleep architecture and NREM sleep instability by means of the cyclic alternating pattern (CAP) in children with benign epilepsy with rolandic spikes (BERS). Methods Ten children with BERS, drug free at the time of the study and 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b37438d75473ddc4419d954173216738
http://hdl.handle.net/11573/362277
http://hdl.handle.net/11573/362277
Autor:
Giangennaro Coppola, Francesca Felicia Operto, Anna Luchetti, Paolo Curatolo, Alberto Verrotti, Paola Iannetti, Salvatore Grosso, Paolo Balestri, Salvatore Mangano, Pasquale Parisi, Emilio Franzoni, Antonio Pascotto, A. Pelliccia
Summary Purpose To report on the first multicenter Italian experience with zonisamide as an add-on drug for refractory generalised or partial epilepsy in children, adolescents and young adults. Methods The patients were enrolled in a prospective, add
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ada0c39882dfee3dfe5ffd6ee884916
http://hdl.handle.net/11591/187507
http://hdl.handle.net/11591/187507