Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2
Crimella, C, Baschirotto, C, Arnoldi, A, Tonelli, A, Tenderini, E, Airoldi, G, Martinuzzi, A, Trabacca, A, Losito, L, Scarlato, M, Benedetti, S, Scarpini, E, Spinicci, G, Bresolin, N, Bassi, MT
Published in Clinical genetics (01.08.2012)
Published in Clinical genetics (01.08.2012)
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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
Schöls, Ludger, Rattay, Tim W, Martus, Peter, Meisner, Christoph, Baets, Jonathan, Fischer, Imma, Jägle, Christine, Fraidakis, Matthew J, Martinuzzi, Andrea, Saute, Jonas Alex, Scarlato, Marina, Antenora, Antonella, Stendel, Claudia, Höflinger, Philip, Lourenco, Charles Marques, Abreu, Lisa, Smets, Katrien, Paucar, Martin, Deconinck, Tine, Bis, Dana M, Wiethoff, Sarah, Bauer, Peter, Arnoldi, Alessia, Marques, Wilson, Jardim, Laura Bannach, Hauser, Stefan, Criscuolo, Chiara, Filla, Alessandro, Züchner, Stephan, Bassi, Maria Teresa, Klopstock, Thomas, De Jonghe, Peter, Björkhem, Ingemar, Schüle, Rebecca
Published in Brain (London, England : 1878) (01.12.2017)
Published in Brain (London, England : 1878) (01.12.2017)
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Cholestenoic acids regulate motor neuron survival via liver X receptors
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
Published in The Journal of clinical investigation (01.11.2014)
Published in The Journal of clinical investigation (01.11.2014)
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Nitric oxide inhibition of Drp1-mediated mitochondrial fission is critical for myogenic differentiation
De Palma, C, Falcone, S, Pisoni, S, Cipolat, S, Panzeri, C, Pambianco, S, Pisconti, A, Allevi, R, Bassi, M T, Cossu, G, Pozzan, T, Moncada, S, Scorrano, L, Brunelli, S, Clementi, E
Published in Cell death and differentiation (01.11.2010)
Published in Cell death and differentiation (01.11.2010)
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Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine
Tonelli, A, Gallanti, A, Bersano, A, Cardin, V, Ballabio, E, Airoldi, G, Redaelli, F, Candelise, L, Bresolin, N, Bassi, MT
Published in Clinical genetics (01.12.2007)
Published in Clinical genetics (01.12.2007)
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Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations
Arnoldi, A, Crimella, C, Tenderini, E, Martinuzzi, A, D'Angelo, MG, Musumeci, O, Toscano, A, Scarlato, M, Fantin, M, Bresolin, N, Bassi, MT
Published in Clinical genetics (01.02.2012)
Published in Clinical genetics (01.02.2012)
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A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation
Borgatti, R, Zucca, C, Cavallini, A, Ferrario, M, Panzeri, C, Castaldo, P, Soldovieri, M V, Baschirotto, C, Bresolin, N, Dalla Bernardina, B, Taglialatela, M, Bassi, M T
Published in Neurology (13.07.2004)
Published in Neurology (13.07.2004)
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Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy
Tonelli, A, Romaniello, R, Grasso, R, Cavallini, A, Righini, A, Bresolin, N, Borgatti, R, Bassi, MT
Published in Clinical genetics (01.11.2010)
Published in Clinical genetics (01.11.2010)
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Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients
Bedeschi, Maria Francesca, Bonaglia, Maria Clara, Grasso, Rita, Pellegri, Alda, Garghentino, Rosaria Rita, Battaglia, Maria Amalia, Panarisi, Anna Maria, Di Rocco, Maja, Balottin, Umberto, Bresolin, Nereo, Bassi, Maria Teresa, Borgatti, Renato
Published in Pediatric neurology (01.03.2006)
Published in Pediatric neurology (01.03.2006)
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X-linked situs abnormalities result from mutations in ZIC3
Gebbia, M, Ferrero, G B, Pilia, G, Bassi, M T, Aylsworth, A, Penman-Splitt, M, Bird, L M, Bamforth, J S, Burn, J, Schlessinger, D, Nelson, D L, Casey, B
Published in Nature genetics (01.11.1997)
Published in Nature genetics (01.11.1997)
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A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood
Bassi, M T, Bresolin, N, Tonelli, A, Nazos, K, Crippa, F, Baschirotto, C, Zucca, C, Bersano, A, Dolcetta, D, Boneschi, F M, Barone, V, Casari, G
Published in Journal of medical genetics (01.08.2004)
Published in Journal of medical genetics (01.08.2004)
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Non-type I cystinuria caused by mutations in SLC7A9 , encoding a subunit (b o,+ AT) of rBAT
Ballabio, Andrea, Beccia, Ercole, Borsani, Giuseppe, Aksentijevich, Ivona, Rizzoni, Gian Franco, Pineda, Marta, Estivill, Xavier, Bassi, Maria Teresa, Goldman, Boleslaw, Centola, Michael, Torrents, David, Endsley, John K, Kreiss, Yitshak, Camps, Marta, Palacín, Manuel, Nunes, Virginia, Feliubadaló, Lídia, Pras, Elon, Kastner, Daniel L, Lloberas, Jorge, Zorzano, Antonio, Ponzone, Alberto, de Sanctis, Luisa, Golomb, Eliahu, Reig, Núria, Rousaud, Ferran, George Jr, Alfred L, Bisceglia, Luigi, Font, Mariona, Gallucci, Michele, Manzoni, Marta, Estévez, Raúl, Purroy, Jesús, Pras, Mordechai, Riboni, Mirko, Zelante, Leopoldo, Gasparini, Paolo, Fernández, Esperanza, De Grandi, Alessandro
Published in Nature genetics (01.09.1999)
Published in Nature genetics (01.09.1999)
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A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice
Purandare, Smita M, Ware, Stephanie M, Kwan, Kin Ming, Gebbia, Marinella, Bassi, Maria Teresa, Deng, Jian Min, Vogel, Hannes, Behringer, Richard R, Belmont, John W, Casey, Brett
Published in Development (Cambridge) (01.05.2002)
Published in Development (Cambridge) (01.05.2002)
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Relationship Between Migraine and Epilepsy in Pediatric Age
Piccinelli, Paolo, Borgatti, Renato, Nicoli, Francesca, Calcagno, Patrizia, Bassi, Maria Teresa, Quadrelli, Marta, Rossi, Giorgio, Lanzi, Giovanni, Balottin, Umberto
Published in Headache (01.03.2006)
Published in Headache (01.03.2006)
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Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family
Monti, E, Bassi, M.T, Bresciani, R, Civini, S, Croci, G.L, Papini, N, Riboni, M, Zanchetti, G, Ballabio, A, Preti, A, Tettamanti, G, Venerando, B, Borsani, G
Published in Genomics (San Diego, Calif.) (01.03.2004)
Published in Genomics (San Diego, Calif.) (01.03.2004)
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Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development
Kosaki, K., Kosaki, R., Bassi, M.T., Lewin, M., Belmont, J., Schauer, G., Casey, B.
Published in American journal of human genetics (01.03.1999)
Published in American journal of human genetics (01.03.1999)
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SLC7A7 , encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
Borsani, Giuseppe, Sebastio, Gianfranco, Bassi, Maria Teresa, Sperandeo, Maria Pia, Grandi, Alessandro De, Buoninconti, Anna, Riboni, Mirko, Manzoni, Marta, Incerti, Barbara, Pepe, Antonio, Andria, Generoso, Ballabio, Andrea
Published in Nature genetics (01.03.1999)
Published in Nature genetics (01.03.1999)
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Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane
Monti, E, Bassi, M T, Papini, N, Riboni, M, Manzoni, M, Venerando, B, Croci, G, Preti, A, Ballabio, A, Tettamanti, G, Borsani, G
Published in Biochemical journal (01.07.2000)
Published in Biochemical journal (01.07.2000)
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Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene
Tonelli, Alessandra, D'Angelo, Maria Grazia, Salati, Roberto, Villa, Laura, Germinasi, Chiara, Frattini, Tiziano, Meola, Giovanni, Turconi, Anna Carla, Bresolin, Nereo, Bassi, Maria Teresa
Published in Journal of the neurological sciences (15.02.2006)
Published in Journal of the neurological sciences (15.02.2006)
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