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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Nitric Oxide Sustains Long-Term Skeletal Muscle Regeneration by Regulating Fate of Satellite Cells Via Signaling Pathways Requiring Vangl2 and Cyclic GMP von Buono, Roberta, Vantaggiato, Chiara, Pisa, Viviana, Azzoni, Emanuele, Bassi, Maria Teresa, Brunelli, Silvia, Sciorati, Clara, Clementi, Emilio

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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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Matrix metalloproteinase-8 overexpression prevents proper tissue repair von Danielsen, Patricia L., MD, PhD, Holst, Anders V., MD, Maltesen, Henrik R., MD, Bassi, Maria R., MSc, Holst, Peter J., MD, PhD, Heinemeier, Katja M., PhD, Olsen, Jørgen, MD, PhD, Danielsen, Carl C., MD, PhD, Poulsen, Steen S., MD, PhD, Jorgensen, Lars N., MD, DrMedSci, Ågren, Magnus S., DrMedSci

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Undergoing head and neck cancer surgery: A grounded theory von Losi, Elisabetta, Guberti, Monica, Ghirotto, Luca, Di Leo, Silvia, Bassi, Maria C., Costi, Stefania

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Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia von Panzeri, Elena, Citterio, Andrea, Martinuzzi, Andrea, Ancona, Vera, Martini, Eleonora, Bassi, Maria Teresa

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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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KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis von Simone, Marta, Trabacca, Antonio, Panzeri, Elena, Losito, Luciana, Citterio, Andrea, Bassi, Maria Teresa

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Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5 von Romaniello, Romina, Citterio, Andrea, Panzeri, Elena, Arrigoni, Filippo, De Rinaldis, Marta, Trabacca, Antonio, Bassi, Maria Teresa

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) von Klionsky, Daniel J, Askanas, Valerie, Aurelian, Laure, Bae, Jae-sung, Baek, Seung-Hoon, Balaji, Kithiganahalli Narayanaswamy, Ballabio, Andrea, Bernassola, Francesca, Boyer-Guittaut, Michaël, Caberlotto, Laura, Campbell, Grant R, Cardoso, Sandra Morais, Carlsson, Sven R, Chiariello, Mario, Choi, Jayoung, Chwae, Yong-Joon, Coletto, Luisa, Cossarizza, Andrea, Covey, Lori R, Dobson, Renwick CJ, Durcan, Thomas M, Eisenberg-Lerner, Avital, Engedal, Nikolai, Erman, Andreja, Fan, Jie, Faure, Mathias, Fujitani, Yoshio, Gabryel, Bozena, Gruber, Florian, Gustafsson, Åsa B, Haber, James E, Hilfiker, Sabine, Hill, Joseph A, Hu, Zhuo-Wei, Huang, Shiqian, Jiang, Xiaoyan, Jiang, Xuejun, Jin, Lei, Joseph, Anna-Maria, Jung, Yong-Keun, Kaynar, A Murat, Ke, Zun-Ji, Kemper, Jongsook Kim, Kimchi, Adi, Kitajima, Yasuo, Kundu, Mondira, Kyrmizi, Irene, Lezoualc'h, Frank, Lin, Chang-Shen, Lin, Chiou-Feng, Liotta, Lance A, Liu, Fei, Liu, Jianxun, Liu, Jing-Jing, Liu, Xinfeng, Liu, Zhe, Maiti, Tapas K, Mariño, Guillermo, Mashima, Hirosato, Mayer, Andreas, McBrayer, Mary Kate, McMahon, John J, Mena, Maria A, Menendez, Javier A, Mnich, Katarzyna, Nawrocki, Steffan T, Nguyen, Hang TT, Noda, Takeshi, Nolte, Elsie Magdalena, Norga, Koenraad K, Noureini, Sakineh Kazemi, Ojha, Rani, Ozdinler, P Hande, Radogna, Flavia, Raina, Komal, Russo, Rossella, Schulze, Ryan J, Setoguchi, Takao, Shirihai, Orian, Soenen, Stefaan J, Sotgia, Federica, Suzuki, Hidekazu, Suzuki, Yuichiro J, Szatmari, Zsuzsanna, Taylor, Gregory A, Tumbarello, David A, Vandenabeele, Peter, Wang, Xin, Wang, Yu Tian, Warnes, Gary, Weaver, Timothy E, Weis, Simone Nardin, Wu, Chunlai, Wu, Junfang, Wu, Min, Yeganeh, Behzad, Yi, Long, Zeng, Jinsheng, Zhao, Ying, Zhivotovsky, Boris

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Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia von Vantaggiato, Chiara, Orso, Genny, Guarato, Giulia, Brivio, Francesca, Napoli, Barbara, Panzeri, Elena, Masotti, Simona, Santorelli, Filippo Maria, Lamprou, Maria, Gumeni, Sentiljana, Clementi, Emilio, Bassi, Maria Teresa

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SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features von Epifanio, Roberta, Giorda, Roberto, Merlano, Maria Carolina, Zanotta, Nicoletta, Romaniello, Romina, Marelli, Susan, Russo, Silvia, Cogliati, Francesca, Bassi, Maria Teresa, Zucca, Claudio

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