Epilepsy in Tubulinopathy: Personal Series and Literature Review von Romaniello, Romina, Zucca, Claudio, Arrigoni, Filippo, Bonanni, Paolo, Panzeri, Elena, Bassi, Maria T, Borgatti, Renato

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A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family von Cotti Piccinelli, Stefano, Bassi, Maria T, Citterio, Andrea, Manganelli, Fiore, Tozza, Stefano, Santorelli, Filippo M, Gallo Cassarino, Serena, Caria, Filomena, Baldelli, Enrico, Galvagni, Anna, Santoro, Lucio, Padovani, Alessandro, Filosto, Massimiliano

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Cloning of the Gene Encoding a Novel Integral Membrane Protein, Mucolipidin—and Identification of the Two Major Founder Mutations Causing Mucolipidosis Type IV von Bassi, Maria T., Manzoni, Marta, Monti, Eugenio, Pizzo, Maria T., Ballabio, Andrea, Borsani, Giuseppe

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A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype von Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T, Borgatti, Renato

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Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum von Romaniello, Romina, Marelli, Susan, Giorda, Roberto, Bedeschi, Maria F., Bonaglia, Maria C., Arrigoni, Filippo, Triulzi, Fabio, Bassi, Maria T., Borgatti, Renato

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Cholestenoic acids regulate motor neuron survival via liver X receptors von Theofilopoulos, Spyridon, Griffiths, William J, Crick, Peter J, Yang, Shanzheng, Meljon, Anna, Ogundare, Michael, Kitambi, Satish Srinivas, Lockhart, Andrew, Tuschl, Karin, Clayton, Peter T, Morris, Andrew A, Martinez, Adelaida, Reddy, M Ashwin, Martinuzzi, Andrea, Bassi, Maria T, Honda, Akira, Mizuochi, Tatsuki, Kimura, Akihiko, Nittono, Hiroshi, De Michele, Giuseppe, Carbone, Rosa, Criscuolo, Chiara, Yau, Joyce L, Seckl, Jonathan R, Schüle, Rebecca, Schöls, Ludger, Sailer, Andreas W, Kuhle, Jens, Fraidakis, Matthew J, Gustafsson, Jan-Åke, Steffensen, Knut R, Björkhem, Ingemar, Ernfors, Patrik, Sjövall, Jan, Arenas, Ernest, Wang, Yuqin

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Tubulin genes and malformations of cortical development von Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E., Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T., Cushion, Thomas D.

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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome von Bassi, Maria T, Schiaffino, M. Vittoria, Renieri, Alessandra, Nigris, Filomena De, Galli, Lucia, Bruttini, Mirella, Gebbia, Marinella, Bergen, Arthur A.B, Lewis, Richard A, Ballabio, Andrea

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novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function von Vantaggiato, Chiara, Redaelli, Francesca, Falcone, Sestina, Perrotta, Cristiana, Tonelli, Alessandra, Bondioni, Sara, Morbin, Michela, Riva, Daria, Saletti, Veronica, Bonaglia, Maria C, Giorda, Roberto, Bresolin, Nereo, Clementi, Emilio, Bassi, Maria T

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A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation von Romaniello, Romina, Zucca, Claudio, Tonelli, Alessandra, Bonato, Sara, Baschirotto, Cinzia, Zanotta, Nicoletta, Epifanio, Roberta, Righini, Andrea, Bresolin, Nereo, Bassi, Maria T, Borgatti, Renato

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The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function von Panzeri, Chris, De Palma, Clara, Martinuzzi, Andrea, Daga, Andrea, De Polo, Gianni, Bresolin, Nereo, Miller, Christopher C., Tudor, Elizabeth L., Clementi, Emilio, Bassi, Maria T.

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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood von Heinzen, Erin L, Swoboda, Kathryn J, Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F Danilo, Fontaine, Bertrand, Walley, Nicole M, Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T, Newcomb, Tara M, Viollet, Louis, Huff, Chad, Jorde, Lynn B, Reyna, Sandra P, Murphy, Kelley J, Shianna, Kevin V, Gumbs, Curtis E, Little, Latasha, Silver, Kenneth, Ptáček, Louis J, Haan, Joost, Ferrari, Michel D, Bye, Ann M, Herkes, Geoffrey K, Whitelaw, Charlotte M, Webb, David, Lynch, Bryan J, Uldall, Peter, King, Mary D, Scheffer, Ingrid E, Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M J M, Sisodiya, Sanjay M, Mikati, Mohamad A, Goldstein, David B

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Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane von Monti, E, Bassi, M T, Papini, N, Riboni, M, Manzoni, M, Venerando, B, Croci, G, Preti, A, Ballabio, A, Tettamanti, G, Borsani, G

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Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries von Salvaterra, Elena, Giorda, Roberto, Bassi, Maria T, Borgatti, Renato, Knudsen, Lisbeth E, Martinuzzi, Andrea, Nobile, Maria, Pozzoli, Uberto, Ramelli, Gian P, Reni, Gianl L, Rivolta, Damiano, Stazi, Maria A, Strazzer, Sandra, Thijs, Carel, Toccaceli, Virgilia, Trabacca, Antonio, Turconi, Anna C, Zanini, Sergio, Zucca, Claudio, Bresolin, Nereo, Lenzi On Behalf Of The Pediatric Biobank Elsi Working Group, Leonardo

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Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC) von BASSI, Maria T, BALOTTIN, Umberto, BORGATTI, Renato, TAGLIALATELA, Maurizio, PANZERI, Chris, PICCINELLI, Paolo, CASTALDO, Pasqualina, BARRESE, Vincenzo, SOLDOVIERI, Maria V, MICELI, Francesco, COLOMBO, Maria, BRESOLIN, Nereo

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A high resolution deletion map of human chromosome Xp22 von Schaefer, Laura, Ferrero, Giovanni B, Grillo, Alessandra, Bassi, Maria T, Roth, Elizabeth J, Wapenaar, Martin C, van Ommen, Gert-Jan B, Mohandas, Thuluvancheri K, Rocchi, Mariano, Zoghbi, Huda Y, Ballabio, Andrea

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Risk of SARS-CoV-2 reinfection by vaccination status, predominant variant and time from prior infection: a cohort study, Reggio Emilia province, Italy, February 2020 to February 20... von Vicentini, Massimo, Venturelli, Francesco, Mancuso, Pamela, Bisaccia, Eufemia, Zerbini, Alessandro, Massari, Marco, Cossarizza, Andrea, De Biasi, Sara, Pezzotti, Patrizio, Bedeschi, Emanuela, Giorgi Rossi, Paolo

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X-linked situs abnormalities result from mutations in ZIC3 von Gebbia, Marinella, Ferrero, Giovanni B, Pilia, Giuseppe, Bassi, Maria T, Aylsworth, Arthur S, Penman-Splitt, Miranda, Bird, Lynne M, Bamforth, John S, Burn, John, Schlessinger, David, Nelson, David L, Casey, Brett

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A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype von Romaniello, Romina, Saettini, Francesco, Panzeri, Elena, Arrigoni, Filippo, Bassi, Maria T., Borgatti, Renato

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The role of clinical and neuroimaging features in the diagnosis of CADASIL von Bersano, Anna, Bedini, Gloria, Markus, Hugh Stephen, Vitali, Paolo, Colli-Tibaldi, Enrico, Taroni, Franco, Gellera, Cinzia, Baratta, Silvia, Mosca, Lorena, Carrera, Paola, Ferrari, Maurizio, Cereda, Cristina, Grieco, Gaetano, Lanfranconi, Silvia, Mazucchelli, Franca, Zarcone, Davide, De Lodovici, Maria Luisa, Bono, Giorgio, Boncoraglio, Giorgio Battista, Parati, Eugenio Agostino, Calloni, Maria Vittoria, Perrone, Patrizia, Bordo, Bianca Maria, Motto, Cristina, Agostoni, Elio, Pezzini, Alessandro, Padovani, Alessandro, Micieli, Giuseppe, Cavallini, Anna, Molini, Graziella, Sasanelli, Francesco, Sessa, Maria, Comi, Giancarlo, Checcarelli, Nicoletta, Carmerlingo, Massimo, Corato, Manuel, Marcheselli, Simona, Fusi, Laura, Grampa, Giampiero, Uccellini, Davide, Beretta, Simone, Ferrarese, Carlo, Incorvaia, Barbara, Tadeo, Carlo Sebastiano, Adobbati, Laura, Silani, Vincenzo, Faragò, Giuseppe, Trobia, Nadia, Grond-Ginsbach, Caspar, Candelise, Livia

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