檢索結果 - Michela Morbin
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Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation 由 Laura Canafoglia, Michela Morbin, V. Scaioli, Davide Pareyson, Ludovico D’Incerti, Valeria Fugnanesi, Fabrizio Tagliavini, Samuel F. Berkovic, Silvana Franceschetti
出版 2014Artigo -
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Screening for <i>SH3TC2</i> gene mutations in a series of demyelinating recessive Charcot‐Marie‐Tooth disease (CMT4) 由 Giuseppe Piscosquito, Paola Saveri, Stefania Magri, José Berciano, Claudia Gandioli, Michela Morbin, Daniela Di Bella, Isabella Moroni, Franco Taroni, Davide Pareyson
出版 2016Artigo -
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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 由 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
出版 2013Artigo -
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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model 由 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
出版 2012Artigo -
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Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations 由 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
出版 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 由 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
出版 2009Artigo -
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Blurring in patients with temporal lobe epilepsy: clinical, high-field imaging and ultrastructural study 由 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
出版 2012Artigo -
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Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in Tau 由 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
出版 1999Artigo -
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Presynaptic c-Jun N-terminal Kinase 2 regulates NMDA receptor-dependent glutamate release 由 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
出版 2015Artigo -
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Structural Properties of Gerstmann-Sträussler-Scheinker Disease Amyloid Protein 由 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
出版 2003Artigo -
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Mutant Prion Protein Expression Causes Motor and Memory Deficits and Abnormal Sleep Patterns in a Transgenic Mouse Model 由 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
出版 2008Artigo -
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Hereditary Cerebral Hemorrhage With Amyloidosis Associated With the E693K Mutation of APP 由 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
出版 2010Artigo -
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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage 由 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
出版 2012Artigo -
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A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis 由 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
出版 2009Artigo -
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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 由 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
出版 2011Artigo -
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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis 由 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
出版 2013Artigo
相關主題
Biology
Medicine
Gene
Genetics
Pathology
Disease
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Neuroscience
Neuronal ceroid lipofuscinosis
Phenotype
Biochemistry
Cell biology
Neurodegeneration
Psychology
Alzheimer's disease
Amyloid (mycology)
Chemistry
Epilepsy
Internal medicine
Mitochondrion
Age of onset
Ataxia
Batten disease
Botany
Cancer research
Dementia
Gene mutation
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