Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia von Perna, A., Masciullo, M., Modoni, A., Cellini, E., Parrini, E., Ricci, E., Donati, A. M., Silvestri, G.

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Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion von Cardoso, C, Boys, A, Parrini, E, Mignon-Ravix, C, McMahon, J M, Khantane, S, Bertini, E, Pallesi, E, Missirian, C, Zuffardi, O, Novara, F, Villard, L, Giglio, S, Chabrol, B, Slater, H R, Moncla, A, Scheffer, I E, Guerrini, R

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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations von Parrini, E., Ramazzotti, A., Dobyns, W. B., Mei, D., Moro, F., Veggiotti, P., Marini, C., Brilstra, E. H., Bernardina, B. Dalla, Goodwin, L., Bodell, A., Jones, M. C., Nangeroni, M., Palmeri, S., Said, E., Sander, J. W., Striano, P., Takahashi, Y., Van Maldergem, L., Leonardi, G., Wright, M., Walsh, C. A., Guerrini, R.

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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome von SHEEN, V. L, JANSEN, A, VAID, R. R, RUIZ, D. E, HUTCHINS, G. M, MENASHA, J, WILLNER, J, GENG, Y, GRIPP, K. W, NICHOLSON, L, BERRY-KRAVIS, E, BODELL, A, CHEN, M. H, APSE, K, HILL, R. S, DUBEAU, F, ANDERMANN, F, BARKOVICH, J, ANDERMANN, E, SHUGART, Y. Y, THOMAS, P, VIRI, M, VEGGIOTTI, P, PARRINI, E, ROBERTSON, S, GUERRINI, R, WALSH, C. A, MORGAN, T, RAVENSCROFT, R, GANESH, V, UNDERWOOD, T, WILEY, J, LEVENTER, R

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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia von GUERRINI, R, MEI, D, MORO, F, DOBYNS, W. B, PARRINI, E, SISODIYA, S, SICCA, F, HARDING, B, TAKAHASHI, Y, DORN, T, YOSHIDA, A, CAMPISTOL, J, KRÄMER, G

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High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis von Mei, D, Lewis, R, Parrini, E, Lazarou, L P, Marini, C, Pilz, D T, Guerrini, R

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FLNA genomic rearrangements cause periventricular nodular heterotopia von CLAPHAM, K. R, YU, T. W, DU SOUICH, C, VAN KARNEBEEK, C, GUERRINI, R, WALSH, C. A, GANESH, V. S, BARRY, B, CHAN, Y, MEI, D, PARRINI, E, FUNALOT, B, DUPUIS, L, NEZARATI, M. M

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Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia von Mei, D, Parrini, E, Pasqualetti, M, Tortorella, G, Franzoni, E, Giussani, U, Marini, C, Migliarini, S, Guerrini, R

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De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism von Riva, Martina, Ferreira, Sofia, Hayashi, Kotaro, Saillour, Yoann, Medvedeva, Vera P, Honda, Takao, Hayashi, Kanehiro, Altersitz, Claire, Albadri, Shahad, Rosello, Marion, Dang, Julie, Serafini, Malo, Causeret, Frédéric, Henry, Olivia J, Roux, Charles-Joris, Bellesme, Céline, Freri, Elena, Josifova, Dragana, Parrini, Elena, Guerrini, Renzo, Del Bene, Filippo, Nakajima, Kazunori, Bahi-Buisson, Nadia, Pierani, Alessandra

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Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear von Aridon, Paolo, Marini, Carla, Di Resta, Chiara, Brilli, Elisa, De Fusco, Maurizio, Politi, Fausta, Parrini, Elena, Manfredi, Irene, Pisano, Tiziana, Pruna, Dario, Curia, Giulia, Cianchetti, Carlo, Pasqualetti, Massimo, Becchetti, Andrea, Guerrini, Renzo, Casari, Giorgio

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Cortical malformations and COL4A1 mutation: Three new cases von Vitale, G., Pichiecchio, A., Ormitti, F., Tonduti, D., Asaro, A., Farina, L., Piccolo, B., Percesepe, A., Bastianello, S., Orcesi, S., Accorsi, P., Battaglia, D., Cereda, C., Martelli, P., Mine, M., Pinelli, L., Tartaglione, T., Ghi, T., Parrini, E., Zuffardi, O.

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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase al... von Leeflang, E P, Marsh, S E, Parrini, E, Moro, F, Pilz, D, Dobyns, W B, Guerrini, R, Wheless, J W, Gleeson, J G

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Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis von PISANO, Tiziana, JAMES BARKOVICH, A, ROSENOW, Felix, THOMAS, Pierre, MCGILLIVRAY, George, ANDERMANN, Eva, ANDERMANN, Frederick, BERKOVIC, Samuel F, DOBYNS, William B, GUERRINI, Renzo, LEVENTER, Richard J, SQUIER, Waney, SCHEFFER, Ingrid E, PARRINI, Elena, BLASER, Susan, MARINI, Carla, ROBERTSON, Stephen, TORTORELLA, Gaetano

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Panópticos y laberintos: subjetivación, deseo y corporalidad en una cárcel de hombres von Sánchez Michel, Valeria

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Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations von Bonanni, Paolo, Malcarne, Michela, Moro, Francesca, Veggiotti, Pierangelo, Buti, Daniela, Ferrari, Anna Rita, Parrini, Elena, Mei, Davide, Volzone, Anna, Zara, Federico, Heron, Sarah E., Bordo, Laura, Marini, Carla, Guerrini, Renzo

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Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia von PARRINI, Elena, MEI, Davide, WRIGHT, Micheal, DORN, Thomas, GUERRINI, Renzo

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Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations von Guerrini, Renzo, Moro, Francesca, Andermann, Eva, Hughes, Elaine, D'Agostino, Daniela, Carrozzo, Romeo, Bernasconi, Andrea, Flinter, Frances, Parmeggiani, Lucio, Volzone, Anna, Parrini, Elena, Mei, Davide, Jarosz, Jozef M., Morris, Robin G., Pratt, Polly, Tortorella, Gaetano, Dubeau, François, Andermann, Frederick, Dobyns, William B., Das, Soma

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Periventricular heterotopia, mental retardation, and epilepsy associated with 5ql4.3-ql5 deletion von CARDOSO, C, BOYS, A, NOVARA, F, VILLARD, L, GIGLIO, S, CHABROL, B, SLATER, H. R, MONCLA, A, SCHEFFER, I. E, GUERRINI, R, PARRINI, E, MIGNON-RAVIX, C, MCMAHON, J. M, KHANTANE, S, BERTINI, E, PALLESI, E, MISSIRIAN, C, ZUFFARDI, O

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Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotpia von Mei, D, Parrini, E, Pasqualetti, M, Tortorella, G, Franzoni, E, Giussani, U, Marini, C, Migliarini, S, Guerrini, R

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HIGH Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia von MEI, D, PARRINI, E, PASQUALETTI, M, TORTORELLA, G, FRANZONI, E, GIUSSANI, U, MARINI, C, MIGLIARINI, S, GUERRINI, R

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