Search Results - Chiara Pantaleoni

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  1. 1
    Concurrent <i>AFG3L2</i> and <i>SPG7</i> mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation

    Concurrent <i>AFG3L2</i> and <i>SPG7</i> mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation by Stefania Magri, Valentina Fracasso, Massimo Plumari, Enrico Alfei, Daniele Ghezzi, Cinzia Gellera, P. Rusmini, Angelo Poletti, Daniela Di Bella, Antonio E. Elia, Chiara Pantaleoni, Franco Taroni

    Published 2018
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  2. 2
    Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients

    Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients by Silvia Bonanno, Stefania Marcuzzo, Claudia Malacarne, Eleonora Giagnorio, Riccardo Masson, Riccardo Zanin, Maria Teresa Arnoldi, Francesca Andreetta, Ornella Simoncini, Anna Venerando, Cinzia Gellera, Chiara Pantaleoni, Renato Mantegazza, Pia Bernasconi, Giovanni Baranello, Lorenzo Maggi

    Published 2020
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  3. 3
    POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

    POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations by Stefania Di Costanzo, Anuradha Balasubramanian, Heather L. Pond, Anete Rozkalne, Chiara Pantaleoni, S. Saredi, Vandana Gupta, Christine Sunu, Timothy W. Yu, Peter B. Kang, Mustafa A. Salih, Marina Mora, Emanuela Gussoni, Christopher A. Walsh, M. Chiara Manzini

    Published 2014
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  4. 4
    Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome

    Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome by Luisa, Sciacca Francesca, Ambra, Rizzo, Gloria, Bedini, Fioravante, Capone, Vincenzo, Di Lazzaro, Sara, Nava, Francesco, Acerbi, Davide, Rossi Sebastiano, Simona, Binelli, Giuseppe, Faragò, Andrea, Gioppo, Marina, Grisoli, Grazia, Bruzzone Maria, Paolo, Ferroli, Chiara, Pantaleoni, Luigi, Caputi, Jesus, Vela Gomez, Agostino, Parati Eugenio, Anna, Bersano

    Published 2018
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  5. 5
    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement by Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lončarević, Vlatka Mejaški‐Bošnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo Salpietro, Sabrina Signorini, Gilda Stringini, Alain Verloès, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

    Published 2008
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  6. 6
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment by Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    Published 2010
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  7. 7
    Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

    Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability by Paul R. Kasher, Katherine E. Schertz, Megan Thomas, Adam Jackson, Silvia Annunziata, María Juliana Ballesta‐Martínez, Philippe M. Campeau, Peter Clayton, Jennifer L. Eaton, Tiziana Granata, Encarna Guillén‐Navarro, Cristina Hernándo, Caroline E. Laverriere, Agne Liedén, Olaya Villa-Marcos, Meriel McEntagart, Ann Nordgren, Chiara Pantaleoni, Céline Pebrel‐Richard, Catherine Sarret, Francesca L. Sciacca, Ronnie Wright, Bronwyn Kerr, Eric Glasgow, Siddharth Banka

    Published 2016
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  8. 8
    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies by Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, E. Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attié‐Bitach, Enza Maria Valente

    Published 2010
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  9. 9
    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

    Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly by Diana Alcantara, Andrew E. Timms, Karen W. Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Vicky Cheng, Fiona Stewart, Sarju Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I. Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A. Bernstein, Aaron M. Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez‐Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M. Graham, Robert F. Hevner, William B. Dobyns, Mark O’Driscoll, Ghayda Mirzaa

    Published 2017
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  10. 10
    Dose-dependent teratogenicity of valproate in mono- and polytherapy

    Dose-dependent teratogenicity of valproate in mono- and polytherapy by Torbjörn Tomson, Dina Battino, Erminio Bonizzoni, John Craig, Dick Lindhout, Emilio Perucca, Anne Sabers, Sanjeev V. Thomas, Frank Vajda, Richard Finnell, Elisabeth Robert-Gnansia, Chiara Pantaleoni, Bernd Schmidt, Martin J. Brodie, Bibiane Moche Kamga, Laura Gargantini, Laura Prato, Simona Cirillo, Gaia Nardini, Luigi Maria Specchio, Eugène van Puijenbroek, Karl-Otto Nakken, Bettina Schmitz, Meritxell Martinez Ferri, Jana Zarubova, Robert Kuba, Maja Milovanović, Aline Russell, Reetta Kälviäinen, Gerhard Luef, Hideyuki Ohtani, Vladimír Šafčák, Barbara Tettenborn, Martin Kurthen, Ruta Mameniskiene, Alejandro De Marinis, Miri Neufeld, Çiğdem Özkara, Demet Kınay, Boštjan Čebular, Gordana Kiteva-Trencevska, Chi-Wan Lai, Hsiang-Yu Yu, Leonor Cabral-Lim, Otar Toidze, Sofia Kasradze, Silvia Kochen, Dinko Vitezić, Joanna Jędrzejczak, Patrick Kwan, Michel Baulac

    Published 2015
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  11. 11
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome by María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    Published 2011
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  12. 12
    Mowat-Wilson syndrome: growth charts

    Mowat-Wilson syndrome: growth charts by Ivan Ivanovski, Olivera Djurić, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P Adam, Kristina Avela, Magdalena Badura‐Stronka, Allan Bayat, Jill Clayton‐Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Čuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Engel Hoei‐Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Nielsen, Vladimir Kuburović, Brissia Lazalde-Medina, Barış Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, María Luisa Poch-Olivé, Igor Prpić, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Śmigiel, George A. Tanteles, Luigi Tarani, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli

    Published 2020
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  13. 13
    Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

    Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients by Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Fabia Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djurić, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Barış Malbora, Isabella Mammi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, María Luisa Poch-Olivé, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B. Dobyns, Alex R. Paciorkowski

    Published 2016
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  14. 14
    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias by Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damásio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas D. Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz‐Hübsch, Sarah Doss, Gijs A.J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Darío Ortigoza‐Escobar, Stefano D’Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. de Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cécilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart van de Warrenburg, Lüdger Schöls, Franco Taroni, Alexis Brice, Alexandra Dürr

    Published 2023
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  15. 15
    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

    Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care by Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura‐Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburović, Anna Kutkowska‐Kaźmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Barış Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpić, María Luisa Poch-Olivé, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W.E. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Śmigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczałuba, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

    Published 2018
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  16. 16
    De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

    De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitse... by Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Émilie Tisserant, Ange‐Line Bruel, Sara El Kennani, Joaquim Sá, Karen Low, Cristina Dias, Markéta Havlovičová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van‐Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gérard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen V. Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref‐Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin‐Robinet, Yannis Duffourd, Jaya K. George‐Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Vincenzo Nigro, Nicola Brunetti‐Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Annalaura Torella, 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, Sérgio B. Sousa, Raoul C. M. Hennekam, Bekim Sadiković, Julien Thevenon, Jérôme Govin, Antonio Vitobello, Nicola Brunetti‐Pierri

    Published 2020
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  17. 17
    Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

    Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry by Torbjörn Tomson, Dina Battino, Erminio Bonizzoni, John Craig, Dick Lindhout, Emilio Perucca, Anne Sabers, Sanjeev V. Thomas, Frank Vajda, Francesca Faravelli, Chiara Pantaleoni, Elisabeth Robert‐Gnansia, Leonor Cabral‐Lim, Boštjan Čebular, Alejandro de Marinis, Reetta Kälviäinen, Ketevan Khomeriki, Gordana Kiteva-Trencevska, Silvia Kochen, Martin Kurthen, Gerhard Luef, Meritxell Martínez Ferri, Maja Milovanović, Karl O. Nakken, Miri Y. Neufeld, Hideyuki Ohtani, Aline Russell, Vladimír Šafčák, Bettina Schmitz, Luigi Maria Specchio, Barbara Tettenborn, Eugène van Puijenbroek, Hsiang‐Yu Yu, Jana Zárubová, Claus Albretsen, Silje Alvestad, Noémi Becser Andersen, Luisa Antonini, Jens Arentsen, Dag Aurlien, Ismael Barzinji, Juan Luís Becerra, Natalia Bohórquez Morera, Martin J. Brodie, Eylert Brodtkorb, Laura Broglio, Elsebeth Bruun Christensen, Petr Bušek, Claudia Cagnetti, Maria Paola Canevini, Astrid Carius, María Dolores Castro Vilanova, Michela Cecconi, T-Y Chang, Jakob Christensen, Giovanni De Maria, Dieter Dennig, Brenda Diputado, Janne Marit Ertresvåg, Toni Escartin, Dominique Flügel, Birgitte Forsom Sondal, Nicoletta Foschi, Albertina Franza, Katsuyuki Fukushima, Antonio Gambardella, Iñigo Garamendi Ruiz, Helena Gauffin, Pia Gellert, Leif Gjerstad, Lisa Gordon, Katrine Haggag, Imad Halawa, Terttu Heikinheimo-Connell, Tim Hendgen, Zarouhi Hertz, Odo Hildenhagen, Stephanie Hödl, Ineke Hogenesch, Anette Huuse Farmen, Yushi Inoue, Stefan Juhl, Masaaki Kato, Germaine Kenou Van Rijckevorssel, Emily Kluck, Hana Krijtová, Eva Kumlien, Angelo Labate, Theresa Lasch, Hans Lindsten, Renata Listonova, Rasmus Lossius, Anders Lundgren, Kristina Malmgren, Iva Marečková, Daniela Marino, Peter Mattsson, Aileen McGonigal, Katarzyna Miesczanleh, Masahiro Mizobuchi

    Published 2018
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  18. 18
    Declining malformation rates with changed antiepileptic drug prescribing

    Declining malformation rates with changed antiepileptic drug prescribing by Torbjörn Tomson, Dina Battino, Erminio Bonizzoni, John Craig, Dick Lindhout, Emilio Perucca, Anne Sabers, Sanjeev V. Thomas, Frank Vajda, Silvia Kochen, Gerhard Luef, Eugène van Puijenbroek, Alejandro de Marinis, Jana Zárubová, Reetta Kälviäinen, Bettina Schmitz, Sofia Kasradze, Miri Y. Neufeld, Luigi Maria Specchio, Hideyuki Ohtani, Gordana Kiteva-Trencevska, Silje Alvestad, Leonor Cabral‐Lim, Maja Milovanović, Vladimír Šafčák, Boštjan Čebular, Meritxell Martínez Ferri, Barbara Tettenborn, Martin Kurthen, Hsiang‐Yu Yu, Aline Russell, Chiara Pantaleoni, Francesca Faravelli, Elisabeth Robert‐Gnansia, Natalia Bohórquez Morera, Stephanie Hödl, Germaine Kenou Van Rijckevorssel, Hana Krijtová, Renata Listonova, Iva Marečková, Petr Bušek, Gisela Rytířová, Jakob Christensen, Birthe Pedersen, Stefan Juhl, Pia Gellert, Uden Navn, Noémi Becser Andersen, Vaiva Petrenaite, Jens Arentsen, Birgitte Forsom Sondal, Ismael Barzinji, Katarzyna Miesczanleh, Lone Rodam, Elias Zakharia, Morteza Zarifi-Oskoie, M Worm, Elsebeth Bruun Christensen, Reina Roivainen, Terttu Heikinheimo-Connell, Anna Maija Saukkonen, Aileen McGonigal, Dieter Dennig, Tim Hendgen, Bernhard J. Steinhoff, Birgit Müffelmann, Judith Osseforth, Emily Kluck, Odo Hildenhagen, Theresa Lasch, Astrid Carius, Elena Zambrelli, Albertina Franza, Maria Paola Canevini, Katherine Turner, Michela Cecconi, A Paggi, Andrea Ortenzi, Claudia Cagnetti, Nicoletta Foschi, Antonio Gambardella, Angelo Labate, Giovanni De Maria, Luisa Antonini, Laura Broglio, Daniela Marino, Raffaele Rocchi, Paolo Tinuper, Barbara Mostacci, Francesca Bisulli, Giovanni Ambrosetto, Marina Trivisano, Alessandra Pistelli, Pietro Pignatta, Yushi Inoue, Kiyohito Terada, Katsuyuki Fukushima, Masaaki Kato, Masahiro Mizobuchi, Karl O. Nakken

    Published 2019
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  19. 19
    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes by 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

    Published 2022
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  20. 20
    Risk of Major Congenital Malformations and Exposure to Antiseizure Medication Monotherapy

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    Published 2024
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