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Tubulin genes and malformations of cortical development
Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E., Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T., Cushion, Thomas D.
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'Guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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Journal Article
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb
Nakashima, Mitsuko, Saitsu, Hirotomo, Takei, Nobuyuki, Tohyama, Jun, Kato, Mitsuhiro, Kitaura, Hiroki, Shiina, Masaaki, Shirozu, Hiroshi, Masuda, Hiroshi, Watanabe, Keisuke, Ohba, Chihiro, Tsurusaki, Yoshinori, Miyake, Noriko, Zheng, Yingjun, Sato, Tatsuhiro, Takebayashi, Hirohide, Ogata, Kazuhiro, Kameyama, Shigeki, Kakita, Akiyoshi, Matsumoto, Naomichi
Published in Annals of neurology (01.09.2015)
Published in Annals of neurology (01.09.2015)
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Journal Article
Imaging of malformations of cortical development
Colombo, Nadia, Salamon, Noriko, Raybaud, Charles, Özkara, Çigdem, Barkovich, A. James
Published in Epileptic disorders (01.09.2009)
Published in Epileptic disorders (01.09.2009)
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Journal Article
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
Accogli, Andrea, Severino, Mariasavina, Riva, Antonella, Madia, Francesca, Balagura, Ganna, Iacomino, Michele, Carlini, Barbara, Baldassari, Simona, Giacomini, Thea, Croci, Carolina, Pisciotta, Livia, Messana, Tullio, Boni, Antonella, Russo, Angelo, Bilo, Leonilda, Tonziello, Rosa, Coppola, Antonietta, Filla, Alessandro, Mecarelli, Oriano, Casalone, Rosario, Pisani, Francesco, Falsaperla, Raffaele, Marino, Silvia, Parisi, Pasquale, Ferretti, Alessandro, Elia, Maurizio, Luchetti, Anna, Milani, Donatella, Vanadia, Francesca, Silvestri, Laura, Rebessi, Erika, Parente, Eliana, Vatti, Giampaolo, Mancardi, Maria Margherita, Nobili, Lino, Capra, Valeria, Salpietro, Vincenzo, Striano, Pasquale, Zara, Federico
Published in Seizure (London, England) (01.08.2020)
Published in Seizure (London, England) (01.08.2020)
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Journal Article
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development
Uccella, Sara, Accogli, Andrea, Tortora, Domenico, Mancardi, Maria Margherita, Nobili, Lino, Berloco, Bianca, Morana, Giovanni, Striano, Pasquale, Capra, Valeria, Srour, Myriam, Saint-Martine, Christine, Rossi, Andrea, Severino, Mariasavina
Published in Journal of neurology (01.05.2019)
Published in Journal of neurology (01.05.2019)
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Journal Article
Convolutional neural networks to identify malformations of cortical development: A feasibility study
Sánchez Fernández, Iván, Yang, Edward, Amengual-Gual, Marta, Barcia Aguilar, Cristina, Calvachi Prieto, Paola, Peters, Jurriaan M.
Published in Seizure (London, England) (01.10.2021)
Published in Seizure (London, England) (01.10.2021)
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Journal Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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Journal Article
Language Dominance in Patients With Malformations of Cortical Development and Epilepsy
Kuchukhidze, Giorgi, Siedentopf, Christian, Unterberger, Iris, Koppelstaetter, Florian, Kronbichler, Martin, Zamarian, Laura, Haberlandt, Edda, Ischebeck, Anja, Delazer, Margarete, Felber, Stephan, Trinka, Eugen
Published in Frontiers in neurology (21.11.2019)
Published in Frontiers in neurology (21.11.2019)
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Journal Article
Diffusion abnormalities of the corpus callosum in patients with malformations of cortical development and epilepsy
Andrade, Celi S., Leite, Claudia C., Otaduy, Maria C.G., Lyra, Katarina P., Valente, Kette D.R., Yasuda, Clarissa L., Beltramini, Guilherme C., Beaulieu, Christian, Gross, Donald W.
Published in Epilepsy research (01.11.2014)
Published in Epilepsy research (01.11.2014)
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Journal Article
Diffusion tensor imaging in patients with epilepsy and malformations of cortical development
Eriksson, S. H., Rugg-Gunn, F. J., Symms, M. R., Barker, G. J., Duncan, J. S.
Published in Brain (London, England : 1878) (01.03.2001)
Published in Brain (London, England : 1878) (01.03.2001)
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Journal Article
Phosphorus magnetic resonance spectroscopy in malformations of cortical development
Andrade, Celi S., Otaduy, Maria C. G., Valente, Kette D. R., Maia, Danilo F., Park, Eun J., Valério, Rosa M. F., Tsunemi, Miriam H., Leite, Claudia C.
Published in Epilepsia (Copenhagen) (01.12.2011)
Published in Epilepsia (Copenhagen) (01.12.2011)
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Journal Article
Incomplete hippocampal inversion and epilepsy: A systematic review and meta‐analysis
Mutti, Carlotta, Riccò, Matteo, Bartolini, Yerma, Bernabè, Giorgia, Trippi, Irene, Melpignano, Andrea, Ciliento, Rosario, Zinno, Lucia, Florindo, Irene, Sasso, Enrico, Odone, Anna, Parrino, Liborio, Vaudano, Anna Elisabetta
Published in Epilepsia (Copenhagen) (01.02.2021)
Published in Epilepsia (Copenhagen) (01.02.2021)
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Journal Article
PDGFRβ+ cells in human and experimental neuro-vascular dysplasia and seizures
Garbelli, R., de Bock, F., Medici, V., Rousset, M.C., Villani, F., Boussadia, B., Arango-Lievano, M., Jeanneteau, F., Daneman, R., Bartolomei, F., Marchi, N.
Published in Neuroscience (15.10.2015)
Published in Neuroscience (15.10.2015)
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Journal Article
Widespread pH abnormalities in patients with malformations of cortical development and epilepsy: A phosphorus-31 brain MR spectroscopy study
Andrade, Celi Santos, Otaduy, Maria Concepción García, Valente, Kette Dualibi Ramos, Park, Eun Joo, Kanas, Alexandre Fligelman, Silva Filho, Mauricio Ricardo Moreira da, Tsunemi, Miriam Harumi, Leite, Claudia Costa
Published in Brain & development (Tokyo. 1979) (01.11.2014)
Published in Brain & development (Tokyo. 1979) (01.11.2014)
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Journal Article
Application of preoperative MRI lesion identification algorithm in pediatric and young adult focal cortical dysplasia-related epilepsy
Hom, Kara L., Illapani, Venkata Sita Priyanka, Xie, Hua, Oluigbo, Chima, Vezina, L. Gilbert, Gaillard, William D., Gholipour, Taha, Cohen, Nathan T.
Published in Seizure (London, England) (01.11.2024)
Published in Seizure (London, England) (01.11.2024)
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Journal Article
Different features of histopathological subtypes of pediatric focal cortical dysplasia
Krsek, Pavel, Maton, Bruno, Korman, Brandon, Pacheco-Jacome, Esperanza, Jayakar, Prasanna, Dunoyer, Catalina, Rey, Gustavo, Morrison, Glenn, Ragheb, John, Vinters, Harry V., Resnick, Trevor, Duchowny, Michael
Published in Annals of neurology (01.06.2008)
Published in Annals of neurology (01.06.2008)
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Journal Article