Výsledky vyhledávání - Maria Teresa Bassi
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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 Autor Maria Teresa Bassi, Marta Manzoni, Eugenio Monti, Maria Teresa Pizzo, Andrea Ballabio, Giuseppe Borsani
Vydáno 2000Artigo -
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A novel mutation in the β‐tubulin gene <i>TUBB2B</i> associated with complex malformation of cortical development and deficits in axonal guidance Autor Romina Romaniello, Alessandra Tonelli, Filippo Arrigoni, Cinzia Baschirotto, Fabio Triulzi, Nereo Bresolin, Maria Teresa Bassi, Renato Borgatti
Vydáno 2012Artigo -
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Brain malformations and mutations in <i>α</i>‐ and <i>β</i>‐tubulin genes: a review of the literature and description of two new cases Autor Romina Romaniello, Filippo Arrigoni, Anna Cavallini, Erika Tenderini, Cinzia Baschirotto, Fabio Triulzi, Maria Teresa Bassi, Renato Borgatti
Vydáno 2014Revisão -
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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 Autor Roberta Buono, Chiara Vantaggiato, Viviana Pisa, Emanuele Azzoni, Maria Teresa Bassi, Silvia Brunelli, Clara Sciorati, Emilio Clementi
Vydáno 2011Artigo -
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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 Autor Kenjiro Kosaki, Rika Kosaki, Maria Teresa Bassi, Mark Lewin, John W. Belmont, Gail M. Schauer, Brett Casey
Vydáno 1999Artigo -
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Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane Autor Eugenio Monti, Maria Teresa Bassi, Nadia Papini, Mirko Riboni, Marta Manzoni, Bruno Venerando, Gianluigi Croci, Augusto Preti, Andrea Ballabio, Guido Tettamanti, Giuseppe Borsani
Vydáno 2000Artigo -
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Syntaxin 4 Is Required for Acid Sphingomyelinase Activity and Apoptotic Function Autor Cristiana Perrotta, Laura Bizzozero, Denise Cazzato, Sara Morlacchi, Emma Assi, Fabio Simbari, Yang Zhang, Erich Gulbins, Maria Teresa Bassi, Patrizia Rosa, Emilio Clementi
Vydáno 2010Artigo -
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X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats Autor Maria Teresa Bassi, Raj Ramesar, Barbara Caciotti, Ingrid Winship, Alessandro De Grandi, Mirko Riboni, Philip L. Townes, Peter Beighton, Andrea Ballabio, Giuseppe Borsani
Vydáno 1999Artigo -
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The Low-Affinity Receptor for Neurotrophins p75<sup>NTR</sup> Plays a Key Role for Satellite Cell Function in Muscle Repair Acting via RhoA Autor Daniela Deponti, Roberta Buono, Giuseppina Catanzaro, Clara De Palma, Renato Longhi, Raffaella Meneveri, Nereo Bresolin, Maria Teresa Bassi, Giulio Cossu, Emilio Clementi, Silvia Brunelli
Vydáno 2009Artigo -
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A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood Autor Maria Teresa Bassi, Nereo Bresolin, A. Tonelli, K. Nazos, Francesca Crippa, Cinzia Baschirotto, Claudio Zucca, Anna Bersano, Diego Dolcetta, Fm Boneschi, Virginia Barone, Giorgio Casari
Vydáno 2004Carta -
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The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function Autor Chris Panzeri, Clara De Palma, Andrea Martinuzzi, Andrea Daga, G. De Polo, Nereo Bresolin, Christopher C.J. Miller, Elizabeth L. Tudor, Emilio Clementi, Maria Teresa Bassi
Vydáno 2006Artigo -
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ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis Autor Chiara Vantaggiato, Elena Panzeri, Marianna Castelli, Andrea Citterio, Alessia Arnoldi, Filippo M. Santorelli, Rocco Liguori, Marina Scarlato, Olimpia Musumeci, António Toscano, Emilio Clementi, Maria Teresa Bassi
Vydáno 2018Artigo -
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Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA Autor Ekaterina Revenkova, Maria Luisa Focarelli, S. P. Lucia, Marianna Paulis, Maria Teresa Bassi, Linda Mannini, Annalisa Frattini, Domenico Delia, Ian D. Krantz, Paolo Vezzoni, Rolf Jessberger, Antonio Musio
Vydáno 2008Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Medicine
Phenotype
Cell biology
Biochemistry
Mutation
Neuroscience
Internal medicine
Chemistry
Hereditary spastic paraplegia
Psychiatry
Molecular biology
Apoptosis
Endocrinology
Signal transduction
Autophagy
Disease
Exon
Missense mutation
Psychology
Spinal cord
Ataxia
Cell
Cerebral palsy
Enzyme
Epilepsy
Magnetic resonance imaging
Mitochondrion