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	1.	Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification. [electronic resource] by Striano, Pasquale Robbiano, Angela Zara, Federico Striano, Salvatore Producer: 20110331 In: Epilepsy & behavior : E&B vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria. [electronic resource] by Robbiano, Angela Mandrile, Giorgia De Marchi, Mario Beck, Bodo Baasner, Anne Murer, Luisa Benetti, Elisa Giachino, Daniela Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)
	3.	Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. [electronic resource] by Bachetti, Tiziana Robbiano, Angela Parodi, Sara Matera, Ivana Merello, Elisa Capra, Valeria Baglietto, Maria Pia Rossi, Andrea Ceccherini, Isabella Ottonello, Giancarlo Producer: 20061026 In: American journal of respiratory and critical care medicine vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1. [electronic resource] by Robbiano, Angela Frecer, Vladimir Miertus, Jan Zadro, Cristina Ulivi, Sheila Bevilacqua, Elena Mandrile, Giorgia De Marchi, Mario Miertus, Stanislav Amoroso, Antonio Producer: 20110120 In: Journal of nephrology vol. 23 Availability: No items available. Save to lists Add to cart (remove)
	5.	Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. [electronic resource] by Canafoglia, Laura Robbiano, Angela Pareyson, Davide Panzica, Ferruccio Nanetti, Lorenzo Giovagnoli, Anna Rita Venerando, Anna Gellera, Cinzia Franceschetti, Silvana Zara, Federico Producer: 20140811 In: Neurology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	White matter involvement in a family with a novel PDGFB mutation. [electronic resource] by Biancheri, Roberta Severino, Mariasavina Robbiano, Angela Iacomino, Michele Del Sette, Massimo Minetti, Carlo Cervasio, Mariarosaria Del Basso De Caro, Marialaura Striano, Pasquale Zara, Federico Producer: 20160526 In: Neurology. Genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability. [electronic resource] by Miceli, Francesco Striano, Pasquale Soldovieri, Maria Virginia Fontana, Antonina Nardello, Rosaria Robbiano, Angela Bellini, Giulia Elia, Maurizio Zara, Federico Taglialatela, Maurizio Mangano, Salvatore Producer: 20150507 In: Epilepsia vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. [electronic resource] by Williams, Emma L Acquaviva, Cecile Amoroso, Antonio Chevalier, Francoise Coulter-Mackie, Marion Monico, Carla G Giachino, Daniela Owen, Tricia Robbiano, Angela Salido, Eduardo Waterham, Hans Rumsby, Gill Producer: 20090813 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. [electronic resource] by Vanni, Nicola Fruscione, Floriana Ferlazzo, Edoardo Striano, Pasquale Robbiano, Angela Traverso, Monica Sander, Thomas Falace, Antonio Gazzerro, Elisabetta Bramanti, Placido Bielawski, Jacek Fassio, Anna Minetti, Carlo Genton, Pierre Zara, Federico Producer: 20150209 In: Annals of neurology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells. [electronic resource] by Gerosa, Franca Baldani-Guerra, Barbara Lyakh, Lyudmila A Batoni, Giovanna Esin, Semih Winkler-Pickett, Robin T Consolaro, Maria Rita De Marchi, Mario Giachino, Daniela Robbiano, Angela Astegiano, Marco Sambataro, Angela Kastelein, Robert A Carra, Giuseppe Trinchieri, Giorgio Producer: 20080804 In: The Journal of experimental medicine vol. 205 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	PRRT2-related disorders: further PKD and ICCA cases and review of the literature. [electronic resource] by Becker, Felicitas Schubert, Julian Striano, Pasquale Anttonen, Anna-Kaisa Liukkonen, Elina Gaily, Eija Gerloff, Christian Müller, Stephan Heußinger, Nicole Kellinghaus, Christoph Robbiano, Angela Polvi, Anne Zittel, Simone von Oertzen, Tim J Rostasy, Kevin Schöls, Ludger Warner, Tom Münchau, Alexander Lehesjoki, Anna-Elina Zara, Federico Lerche, Holger Weber, Yvonne G Producer: 20131205 In: Journal of neurology vol. 260 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. [electronic resource] by Carvill, Gemma L McMahon, Jacinta M Schneider, Amy Zemel, Matthew Myers, Candace T Saykally, Julia Nguyen, John Robbiano, Angela Zara, Federico Specchio, Nicola Mecarelli, Oriano Smith, Robert L Leventer, Richard J Møller, Rikke S Nikanorova, Marina Dimova, Petia Jordanova, Albena Petrou, Steven Helbig, Ingo Striano, Pasquale Weckhuysen, Sarah Berkovic, Samuel F Scheffer, Ingrid E Mefford, Heather C Producer: 20150729 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. [electronic resource] by Zara, Federico Specchio, Nicola Striano, Pasquale Robbiano, Angela Gennaro, Elena Paravidino, Roberta Vanni, Nicola Beccaria, Francesca Capovilla, Giuseppe Bianchi, Amedeo Caffi, Lorella Cardilli, Viviana Darra, Francesca Bernardina, Bernardo Dalla Fusco, Lucia Gaggero, Roberto Giordano, Lucio Guerrini, Renzo Incorpora, Gemma Mastrangelo, Massimo Spaccini, Luigina Laverda, Anna Maria Vecchi, Marilena Vanadia, Francesca Veggiotti, Pierangelo Viri, Maurizio Occhi, Guya Budetta, Mauro Taglialatela, Maurizio Coviello, Domenico A Vigevano, Federico Minetti, Carlo Producer: 20130502 In: Epilepsia vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization. [electronic resource] by Striano, Pasquale Coppola, Antonietta Paravidino, Roberta Malacarne, Michela Gimelli, Stefania Robbiano, Angela Traverso, Monica Pezzella, Marianna Belcastro, Vincenzo Bianchi, Amedeo Elia, Maurizio Falace, Antonio Gazzerro, Elisabetta Ferlazzo, Edoardo Freri, Elena Galasso, Roberta Gobbi, Giuseppe Molinatto, Cristina Cavani, Simona Zuffardi, Orsetta Striano, Salvatore Ferrero, Giovanni Battista Silengo, Margherita Cavaliere, Maria Luigia Benelli, Matteo Magi, Alberto Piccione, Maria Dagna Bricarelli, Franca Coviello, Domenico A Fichera, Marco Minetti, Carlo Zara, Federico Producer: 20120501 In: Archives of neurology vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	PRRT2 mutations are the major cause of benign familial infantile seizures. [electronic resource] by Schubert, Julian Paravidino, Roberta Becker, Felicitas Berger, Andrea Bebek, Nerses Bianchi, Amedeo Brockmann, Knut Capovilla, Giuseppe Dalla Bernardina, Bernardo Fukuyama, Yukio Hoffmann, Georg F Jurkat-Rott, Karin Anttonen, Anna-Kaisa Kurlemann, Gerhard Lehesjoki, Anna-Elina Lehmann-Horn, Frank Mastrangelo, Massimo Mause, Ulrike Müller, Stephan Neubauer, Bernd Püst, Burkhard Rating, Dietz Robbiano, Angela Ruf, Susanne Schroeder, Christopher Seidel, Andreas Specchio, Nicola Stephani, Ulrich Striano, Pasquale Teichler, Jens Turkdogan, Dilsad Vigevano, Federico Viri, Maurizio Bauer, Peter Zara, Federico Lerche, Holger Weber, Yvonne G Producer: 20130705 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	De novo mutations in HCN1 cause early infantile epileptic encephalopathy. [electronic resource] by Nava, Caroline Dalle, Carine Rastetter, Agnès Striano, Pasquale de Kovel, Carolien G F Nabbout, Rima Cancès, Claude Ville, Dorothée Brilstra, Eva H Gobbi, Giuseppe Raffo, Emmanuel Bouteiller, Delphine Marie, Yannick Trouillard, Oriane Robbiano, Angela Keren, Boris Agher, Dahbia Roze, Emmanuel Lesage, Suzanne Nicolas, Aude Brice, Alexis Baulac, Michel Vogt, Cornelia El Hajj, Nady Schneider, Eberhard Suls, Arvid Weckhuysen, Sarah Gormley, Padhraig Lehesjoki, Anna-Elina De Jonghe, Peter Helbig, Ingo Baulac, Stéphanie Zara, Federico Koeleman, Bobby P C Haaf, Thomas LeGuern, Eric Depienne, Christel Producer: 20140808 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. [electronic resource] by Leu, Costin de Kovel, Carolien G F Zara, Federico Striano, Pasquale Pezzella, Marianna Robbiano, Angela Bianchi, Amedeo Bisulli, Francesca Coppola, Antonietta Giallonardo, Anna Teresa Beccaria, Francesca Trenité, Dorothée Kasteleijn-Nolst Lindhout, Dick Gaus, Verena Schmitz, Bettina Janz, Dieter Weber, Yvonne G Becker, Felicitas Lerche, Holger Kleefuss-Lie, Ailing A Hallman, Kerstin Kunz, Wolfram S Elger, Christian E Muhle, Hiltrud Stephani, Ulrich Møller, Rikke S Hjalgrim, Helle Mullen, Saul Scheffer, Ingrid E Berkovic, Samuel F Everett, Kate V Gardiner, Mark R Marini, Carla Guerrini, Renzo Lehesjoki, Anna-Elina Siren, Auli Nabbout, Rima Baulac, Stephanie Leguern, Eric Serratosa, Jose M Rosenow, Felix Feucht, Martha Unterberger, Iris Covanis, Athanasios Suls, Arvid Weckhuysen, Sarah Kaneva, Radka Caglayan, Hande Turkdogan, Dilsad Baykan, Betul Bebek, Nerses Ozbek, Ugur Hempelmann, Anne Schulz, Herbert Rüschendorf, Franz Trucks, Holger Nürnberg, Peter Avanzini, Giuliano Koeleman, Bobby P C Sander, Thomas Producer: 20120309 In: Epilepsia vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. [electronic resource] by Kasperaviciute, Dalia Catarino, Claudia B Matarin, Mar Leu, Costin Novy, Jan Tostevin, Anna Leal, Bárbara Hessel, Ellen V S Hallmann, Kerstin Hildebrand, Michael S Dahl, Hans-Henrik M Ryten, Mina Trabzuni, Daniah Ramasamy, Adaikalavan Alhusaini, Saud Doherty, Colin P Dorn, Thomas Hansen, Jörg Krämer, Günter Steinhoff, Bernhard J Zumsteg, Dominik Duncan, Susan Kälviäinen, Reetta K Eriksson, Kai J Kantanen, Anne-Mari Pandolfo, Massimo Gruber-Sedlmayr, Ursula Schlachter, Kurt Reinthaler, Eva M Stogmann, Elisabeth Zimprich, Fritz Théâtre, Emilie Smith, Colin O'Brien, Terence J Meng Tan, K Petrovski, Slave Robbiano, Angela Paravidino, Roberta Zara, Federico Striano, Pasquale Sperling, Michael R Buono, Russell J Hakonarson, Hakon Chaves, João Costa, Paulo P Silva, Berta M da Silva, António M de Graan, Pierre N E Koeleman, Bobby P C Becker, Albert Schoch, Susanne von Lehe, Marec Reif, Philipp S Rosenow, Felix Becker, Felicitas Weber, Yvonne Lerche, Holger Rössler, Karl Buchfelder, Michael Hamer, Hajo M Kobow, Katja Coras, Roland Blumcke, Ingmar Scheffer, Ingrid E Berkovic, Samuel F Weale, Michael E Delanty, Norman Depondt, Chantal Cavalleri, Gianpiero L Kunz, Wolfram S Sisodiya, Sanjay M Producer: 20131125 In: Brain : a journal of neurology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. [electronic resource] by Steffens, Michael Leu, Costin Ruppert, Ann-Kathrin Zara, Federico Striano, Pasquale Robbiano, Angela Capovilla, Giuseppe Tinuper, Paolo Gambardella, Antonio Bianchi, Amedeo La Neve, Angela Crichiutti, Giovanni de Kovel, Carolien G F Kasteleijn-Nolst Trenité, Dorothée de Haan, Gerrit-Jan Lindhout, Dick Gaus, Verena Schmitz, Bettina Janz, Dieter Weber, Yvonne G Becker, Felicitas Lerche, Holger Steinhoff, Bernhard J Kleefuß-Lie, Ailing A Kunz, Wolfram S Surges, Rainer Elger, Christian E Muhle, Hiltrud von Spiczak, Sarah Ostertag, Philipp Helbig, Ingo Stephani, Ulrich Møller, Rikke S Hjalgrim, Helle Dibbens, Leanne M Bellows, Susannah Oliver, Karen Mullen, Saul Scheffer, Ingrid E Berkovic, Samuel F Everett, Kate V Gardiner, Mark R Marini, Carla Guerrini, Renzo Lehesjoki, Anna-Elina Siren, Auli Guipponi, Michel Malafosse, Alain Thomas, Pierre Nabbout, Rima Baulac, Stephanie Leguern, Eric Guerrero, Rosa Serratosa, Jose M Reif, Philipp S Rosenow, Felix Mörzinger, Martina Feucht, Martha Zimprich, Fritz Kapser, Claudia Schankin, Christoph J Suls, Arvid Smets, Katrin De Jonghe, Peter Jordanova, Albena Caglayan, Hande Yapici, Zuhal Yalcin, Destina A Baykan, Betul Bebek, Nerses Ozbek, Ugur Gieger, Christian Wichmann, Heinz-Erich Balschun, Tobias Ellinghaus, David Franke, Andre Meesters, Christian Becker, Tim Wienker, Thomas F Hempelmann, Anne Schulz, Herbert Rüschendorf, Franz Leber, Markus Pauck, Steffen M Trucks, Holger Toliat, Mohammad R Nürnberg, Peter Avanzini, Giuliano Koeleman, Bobby P C Sander, Thomas Producer: 20130531 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)