Хайлтын үр дүнгүүд - Maria Margherita Mancardi

  • 15-н 1 - 15 үр дүнгүүдийг харуулж байна
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  1. 1
    Gluten Psychosis: Confirmation of a New Clinical Entity

    Gluten Psychosis: Confirmation of a New Clinical Entity -н Elena Lionetti, Salvatore Leonardi, Chiara Franzonello, Maria Margherita Mancardi, Martino Ruggieri, Carlo Catassi

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Ketamine as advanced second‐line treatment in benzodiazepine‐refractory convulsive status epilepticus in children

    Ketamine as advanced second‐line treatment in benzodiazepine‐refractory convulsive status epilepticus in children -н Silvia Buratti, Emanuele Giacheri, Antonella Palmieri, Jessica Tibaldi, Giacomo Brisca, Antonella Riva, Pasquale Striano, Maria Margherita Mancardi, Lino Nobili, Andrea Moscatelli

    Хэвлэсэн 2023
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    Revisão
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  3. 3
    Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

    Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations -н Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, Francesca Madia, Elena Di Gennaro, Roberta Paravidino, Francesca Beccaria, Giuseppe Capovilla, Bernardo Dalla Bernardina, Francesca Darra, Maurizio Elia, Lucio Giordano, Giuseppe Gobbi, Tiziana Granata, Francesca Ragona, Renzo Guerrini, Carla Marini, Davide Mei, Francesca Longaretti, Antonino Romeo, Laura Siri, Nicola Specchio, Federico Vigevano, Salvatore Striano, Fabio Tortora, Andrea Rossi, Carlo Minetti, Charlotte Dravet, R. Gaggero, Federico Zara

    Хэвлэсэн 2007
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    Artigo
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  4. 4
    Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

    Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome -н May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi degli Atti, Maria Margherita Mancardi, Francesco Aristei, Alessandra Biolcati Rinaldi, Giacomo Brisca, Gaetano Cantalupo, Alessandro Consales, Luca De Palma, Matteo Federici, Elena Fontana, Thea Giacomini, Nicola Laffi, Laura Longaretti, Giorgio Marchini, Lino Nobili, C. Occella, Eleonora Pedrazzoli, Enrico Priolo, Giuseppe Kenneth Ricciardi, Erika Rigotti, Donatella Schena, Lorenzo Trevisiol, Urbano Urbani, Federico Vigevano

    Хэвлэсэн 2025
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    Artigo
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  5. 5
    Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

    Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD -н 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

    Хэвлэсэн 2022
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    Artigo
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  6. 6
    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

    The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy -н Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, María J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah Bürki, Maria Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah von Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli, Rikke S. Møller

    Хэвлэсэн 2019
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    Artigo
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  7. 7
    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum -н Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaëtan Lesca, Nienke E. Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria Margherita Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stéphanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An‐Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie‐Christine Nouguès, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Édouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cécilia Altuzarra, Nathalie Villeneuve, Fabrice Bartoloméi, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina Fenger, Wen‐Hann Tan, Leanne M. Dibbens, David Bearden, Rikke S. Møller, Guido Rubboli

    Хэвлэсэн 2021
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    Artigo
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  8. 8
    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

    Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE -н Ganna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Ríos, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Sımona Baldassari, Francesca Beccaria, Antonella Boni, M Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Anna Rita Ferrari, Elena Fiorini, Francesca Madia, Elena Di Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud F. Toonen, Federico Zara, Ingo Helbig, Pasquale Striano

    Хэвлэсэн 2022
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    Artigo
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  9. 9
    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling -н Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella Forte, Beverley Anderson, Giada Ariaudo, Brigitte Bader‐Meunier, Eileen Baildam, Roberta Battini, Michael W. Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E. Collins, Nuno Cordeiro, Russell C. Dale, Joyce Davidson, Liesbeth De Waele, Isabelle Desguerre, Laurence Faivre, Elisa Fazzi, Bertrand Isidor, Lieven Lagae, Andrew Latchman, Pierre Lebon, Chumei Li, John H. Livingston, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel‐Paulet, Iain B. McInnes, Manoj P. Menezes, Cyril Mignot, James O’Sullivan, Simona Orcesi, Paolo Picco, Enrica Riva, Robert A. Robinson, Diana Rodriguez, E. Salvatici, Christiaan Scott, Marta Szybowska, John Tolmie, Adeline Vanderver, Catherine Vanhulle, José Pedro Vieira, Kate Webb, Robyn Whitney, Simon G. Williams, Lynne A. Wolfe, Sameer M. Zuberi, Sun Hur, Yanick J. Crow

    Хэвлэсэн 2014
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    Artigo
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  10. 10
    <i>TBC1D24</i> genotype–phenotype correlation

    <i>TBC1D24</i> genotype–phenotype correlation -н Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya

    Хэвлэсэн 2016
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    Artigo
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  11. 11
    Treatment of MOG antibody associated disorders: results of an international survey

    Treatment of MOG antibody associated disorders: results of an international survey -н Daniel Whittam, Venkatraman Karthikeayan, Emily Gibbons, Rachel Kneen, Saleel Chandratre, Olga Ciccarelli, Yael Hacohen, de Sèze, Kumaran Deiva, Rogier Q. Hintzen, Brigitte Wildemann, Sven Jarius, Ingo Kleiter, Kevin Rostásy, Peter Huppke, B Hemmer, Friedemann Paul, Orhan Aktaş, Anne‐Katrin Pröbstel, Georgina Arrambide, Mar Tintoré, Maria Pia Amato, Margherita Nosadini, Maria Margherita Mancardi, Marco Capobianco, Zsolt Illés, Aksel Sıva, Ayşe Altıntaş, G. Akman‐Demir, Lekha Pandit, M. Apiwattankul, Jyh Yung Hor, S Viswanathan, Wei Qiu, Han Jo Kim, Ichiro Nakashima, Kazuo Fujihara, Sudarshini Ramanathan, Russell C. Dale, M. Boggild, Simon Broadley, M. A. Lana-Peixoto, Douglas Kazutoshi Sato, Sílvia Tenembaum, P. Cabré, Dean M. Wingerchuk, Brian G. Weinshenker, Benjamin Greenberg, Marcelo Matiello, Eric C. Klawiter, Jeffrey L. Bennett, Asya I. Wallach, Ilya Kister, Brenda Banwell, Anthony Traboulsee, Daniela Pohl, Jacqueline Palace, Maria Isabel Leite, Michael Levy, Romain Marignier, Tom Solomon, Ming Lim, Saif Huda, A. Jacob

    Хэвлэсэн 2020
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    Artigo
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  12. 12
    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

    <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond -н Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta, Daniel Bauer, Renske Oegema, Caroline Nava, Elena Parrini, Davide Mei, Catherine Mercer, Radhika Dhamija, Chelsea Chambers, Christine Coubes, Julien Thévenon, Paul Kuentz, Sophie Julia, Laurent Pasquier, Christèle Dubourg, Wilfrid Carré, Anna Rosati, Federico Melani, Tiziana Pisano, Maria Giardino, A. Micheil Innes, Yves Alembik, Sophie Scheidecker, Manuela M. Santos, Sónia Figueiroa, Cristina Garrido, Carlo Fusco, Daniele Frattini, Carlotta Spagnoli, Anna Binda, Tiziana Granata, Francesca Ragona, Elena Freri, Silvana Franceschetti, Laura Canafoglia, Barbara Castellotti, Cinzia Gellera, Raffaella Milanesi, Maria Margherita Mancardi, Damien R Clark, Fernando Kok, Katherine L. Helbig, Shoji Ichikawa, Laurie S. Sadler, Jana Neupauerová, Petra Laššuthová, Katalin Štěrbová, Annick Laridon, Eva H. Brilstra, Bobby P.C. Koeleman, Johannes R. Lemke, Federico Zara, Pasquale Striano, Julie Soblet, Guillaume Smits, Nicolas Deconinck, Andrea Barbuti, Dario DiFrancesco, Eric LeGuern, Renzo Guerrini, Bina Santoro, Kay Hamacher, Gerhard Thiel, Anna Moroni, Jacopo C. DiFrancesco, Christel Depienne

    Хэвлэсэн 2018
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    Artigo
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  13. 13
    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes -н Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G. Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C. Mak, Julián A. Martínez-Agosto, Michael B. Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M.B. Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M. Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Gabrielle Brown, Manish J. Butte, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K. Loo, Bryan C. Mak, Martín G. Martín, Julián A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves‐Rodriguez, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Janet S. Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Vincenzo Nigro, Nicola Brunetti‐Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh Nagata

    Хэвлэсэн 2022
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    Artigo
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  14. 14
    Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

    Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration -н Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini, Alessio Masi, Sophie Hambleton, Emanuela Argilli, Valerio Conti, Simone Giubbolini, Rebekah Barrick, Gaber Bergant, Karin Writzl, Emilia K. Bijlsma, Theresa Brunet, Pilar Cacheiro, Davide Mei, Anita Devlin, Mariëtte J.V. Hoffer, Keren Machol, Guido Mannaioni, Masamune Sakamoto, Manoj P. Menezes, Thomas Courtin, Elliott H. Sherr, Riccardo Parra, Ruth Richardson, Tony Roscioli, Marcello Scala, Celina von Stülpnagel, Damian Smedley, Francesca Pochiero, Francesco Mari, Venkateswaran Ramesh, Valeria Capra, Maria Margherita Mancardi, Boris Keren, C. Mignot, Matteo Lulli, Kendall C. Parks, Helen Griffin, Melanie Brugger, Vincenzo Nigro, Mitsuhiro Kato, Reiko Koichihara, Borut Peterlin, Mitsuhiro Kato, Ryuto Maki, Yohei Nitta, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Bingyang Shi, Tim Hubbard, Robert B. Jackson, Louise J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Anna Lakey, S. E. A. Leigh, I. U. S. Leong, Javier Ferreiros, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael P. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Monica Pereira, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas

    Хэвлэсэн 2023
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    Artigo
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  15. 15
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders -н Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel

    Хэвлэсэн 2025
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    Artigo
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