Search Results - Michela Morbin
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Loss of Prohibitin Membrane Scaffolds Impairs Mitochondrial Architecture and Leads to Tau Hyperphosphorylation and Neurodegeneration by Carsten Merkwirth, Paola Martinelli, Anne Korwitz, Michela Morbin, Hella S. Brönneke, Sabine D. Jordan, Elena I. Rugarli, Thomas Langer
Published 2012Artigo -
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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation by Laura Canafoglia, Michela Morbin, V. Scaioli, Davide Pareyson, Ludovico D’Incerti, Valeria Fugnanesi, Fabrizio Tagliavini, Samuel F. Berkovic, Silvana Franceschetti
Published 2014Artigo -
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Screening for <i>SH3TC2</i> gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4) by Giuseppe Piscosquito, Paola Saveri, Stefania Magri, José Berciano, Claudia Gandioli, Michela Morbin, Daniela Di Bella, Isabella Moroni, Franco Taroni, Davide Pareyson
Published 2016Artigo -
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The Peculiar Role of the A2V Mutation in Amyloid-β (Aβ) 1–42 Molecular Assembly by Massimo Messa, Laura Colombo, Elena Del Favero, Laura Cantù, Tatiana Stoilova, Alfredo Cagnotto, Alessandro Rossi, Michela Morbin, Giuseppe Di Fede, Fabrizio Tagliavini, Mario Salmona
Published 2014Artigo -
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Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model by Dario Brunetti, Sabrina Dusi, Carla Giordano, Costanza Lamperti, Michela Morbin, Valeria Fugnanesi, Silvia Marchet, Gigliola Fagiolari, Ody C.M. Sibon, Maurizio Moggio, Giulia d’Amati, Valeria Tiranti
Published 2013Artigo -
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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model by Dario Brunetti, Sabrina Dusi, Michela Morbin, Andrea Uggetti, Fabio Moda, Ilaria D’Amato, Carla Giordano, Giulia d’Amati, Anna Cozzi, Sonia Levi, Susan J. Hayflick, Valeria Tiranti
Published 2012Artigo -
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Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations by Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, S. Binelli, V. Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F. Berkovic, Silvana Franceschetti
Published 2015Artigo -
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A novel<i>CLN8</i>mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function by Chiara Vantaggiato, Francesca Redaelli, Sestina Falcone, Cristiana Perrotta, Alessandra Tonelli, Sara Bondioni, Michela Morbin, Daria Riva, Veronica Saletti, María Clara Bonaglia, Roberto Giorda, Nereo Bresolin, Emilio Clementi, Maria Teresa Bassi
Published 2009Artigo -
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Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study by Rita Garbelli, Gloria Milesi, Valentina Medici, Flavio Villani, Giuseppe Didato, Francesco Deleo, Ludovico D’Incerti, Michela Morbin, Giulia Mazzoleni, Anna Rıta Gıovagnolı, Annalisa Parente, Ileana Zucca, Alfonso Mastropietro, Roberto Spreafico
Published 2012Artigo -
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Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in Tau by Orso Bugiani, Jill R. Murrell, Giorgio Giaccone, Masato Hasegawa, Giuseppe Ghigo, Massimo Tabaton, Michela Morbin, A. Primavera, F. Carella, Claudio Solaro, Marina Grisoli, M. Savoiardo, Maria Grazia Spillantini, Fabrizio Tagliavini, Michel Goedert, Bernardino Ghetti
Published 1999Artigo -
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Presynaptic c-Jun N-terminal Kinase 2 regulates NMDA receptor-dependent glutamate release by Robert Nisticò, Fulvio Florenzano, Dalila Mango, Caterina Ferraina, Massimo Grilli, Silvia Di Prisco, Annalisa Nobili, Stefania Saccucci, Marcello D’Amelio, Michela Morbin, Mario Marchi, Nicola Biagio Mercuri, Roger J. Davis, Anna Pittaluga, Marco Feligioni
Published 2015Artigo -
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Structural Properties of Gerstmann-Sträussler-Scheinker Disease Amyloid Protein by Mario Salmona, Michela Morbin, Tania Massignan, Laura Colombo, Giulia Mazzoleni, Raffaella Capobianco, Luisa Diomede, Florian Thaler, Luca Mollica, Giovanna Musco, Joseph J. Kourie, Orso Bugiani, Deepak Sharma, Hideyo Inouye, Daniel A. Kirschner, Gianluigi Forloni, Fabrizio Tagliavini
Published 2003Artigo -
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Mutant Prion Protein Expression Causes Motor and Memory Deficits and Abnormal Sleep Patterns in a Transgenic Mouse Model by Silvia Dossena, Luca Imeri, Michela Mangieri, Anna Garofoli, Loris L. Ferrari, Assunta Senatore, Elena Restelli, Claudia Balducci, Fabio Fiordaliso, Monica Salio, Susanna Bianchi, Luana Fioriti, Michela Morbin, Alessandro Pincherle, Gabriella Marcon, Flavio Villani, Mirjana Carli, Fabrizio Tagliavini, Gianluigi Forloni, Roberto Chiesa
Published 2008Artigo -
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Hereditary Cerebral Hemorrhage With Amyloidosis Associated With the E693K Mutation of APP by Orso Bugiani, Giorgio Giaccone, Giacomina Rossi, Michela Mangieri, Raffaella Capobianco, Michela Morbin, Giulia Mazzoleni, Chiara Cupidi, Gabriella Marcon, Anna Rıta Gıovagnolı, Alberto Bizzi, Giuseppe Di Fede, Gianfranco Puoti, F. Carella, Andrea Salmaggi, A. Romorini, G. Patruno, Mauro Magoni, Alessandro Padovani, Fabrizio Tagliavini
Published 2010Artigo -
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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage by Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara Mole, John F. Staropoli, Katherine B. Sims, Jada Lewis, Wen-Lang Lin, Dennis W. Dickson, Hans‐Henrik M. Dahl, Melanie Bahlo, Samuel F. Berkovic
Published 2012Artigo -
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A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis by Giuseppe Di Fede, Marcella Catania, Michela Morbin, Giacomina Rossi, Silvia Suardi, Giulia Mazzoleni, Marco Merlin, Anna Rıta Gıovagnolı, Sara Prioni, Alessandra Erbetta, Chiara Falcone, Marco Gobbi, Laura Colombo, Antonio Bastone, Marten Beeg, Claudia Manzoni, Bruna Francescucci, Alberto Spagnoli, Laura Cantù, Elena Del Favero, Efrat Levy, Mario Salmona, Fabrizio Tagliavini
Published 2009Artigo -
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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 by Todor Arsov, Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul A. Mullen, Frédérick Andermann, Sara Mole, Melanie Bahlo, Samuel F. Berkovic
Published 2011Artigo -
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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis by Katherine R. Smith, H H Dahl, Laura Canafoglia, E. Andermann, John A. Damiano, Michela Morbin, Amalia C. Bruni, Giorgio Giaccone, Patrick Cossette, Paul Säftig, Joachim Grötzinger, Michael Schwake, Frédérick Andermann, John F. Staropoli, Katherine B. Sims, Sara Mole, Silvana Franceschetti, Nora Alexander, Jonathan D. Cooper, Harold A. Chapman, Stirling Carpenter, Samuel F. Berkovic, Melanie Bahlo
Published 2013Artigo
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