Search Results - Nardo Nardocci

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  1. 1
    Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

    Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families by Nardo Nardocci, Giovanna Zorzi, Chiara Barzaghi, Federica Zibordi, José Berciano, Daniele Ghezzi, Barbara Garavaglia

    Published 2007
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  2. 2
    Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

    Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts by Maria Clara Zanellati, Valentina Monti, Chiara Barzaghi, Chiara Reale, Nardo Nardocci, Alberto Albanese, Enza Maria Valente, Daniele Ghezzi, Barbara Garavaglia

    Published 2015
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  3. 3
    Sporadic and familial glut1ds Italian patients: A wide clinical variability

    Sporadic and familial glut1ds Italian patients: A wide clinical variability by Valentina De Giorgis, Federica Teutonico, Cristina Cereda, Umberto Balottin, Marika Bianchi, Lucio Giordano, Sara Olivotto, Francesca Ragona, Anna Tagliabue, Giovanna Zorzi, Nardo Nardocci, Pierangelo Veggiotti

    Published 2014
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  4. 4
    EFNS guidelines on diagnosis and treatment of primary dystonias

    EFNS guidelines on diagnosis and treatment of primary dystonias by Alberto Albanese, Friedrich Asmus, Kailash P. Bhatia, Antonio E. Elia, Bülent Elibol, Graziella Filippini, Thomas Gasser, Joachim K. Krauss, Nardo Nardocci, A. Newton, Josep Valls‐Solé

    Published 2010
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  5. 5
    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments

    GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments by María Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano, Francesca Nardecchia, Tiziana Granata, Luca Pollini, Martina Di Rocco, Carlo Efisio Marras, Nardo Nardocci, Vincenzo Leuzzi

    Published 2023
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  6. 6
    Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with <i>CLN6</i> mutations

    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 2015
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  7. 7
    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

    Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy by Filippo M. Santorelli, Barbara Garavaglia, Francesco Cardona, Nardo Nardocci, Bernardo Dalla Bernardina, Stefano Sartori, Agnese Suppiej, Enrico Bertini, Dianela Claps, Roberta Battini, Roberta Biancheri, Mirella Filocamo, Francesco Pezzini, Alessandro Simonati

    Published 2013
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  8. 8
    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN) by Penelope Hogarth, Manju A. Kurian, Allison Gregory, Barbara Csányi, Tamara Zagustin, Tomasz Kmieć, Patricia M. Wood, Angelika Klucken, Natale A. Scalise, Francesca Sofia, Thomas Klopstock, Giovanna Zorzi, Nardo Nardocci, Susan J. Hayflick

    Published 2016
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  9. 9
    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations by Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciusani, Enrico Bertini, Nardo Nardocci, Vamsi K. Mootha, Valeria Tiranti

    Published 2011
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  10. 10
    ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

    ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients by Miryam Carecchio, Niccolò E. Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P. Bhatia, Valentina Monti, Lea R’Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, María Stamelou, Nardo Nardocci

    Published 2017
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  11. 11
    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub>

    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub> by Allison Gregory, S. K. Westaway, Ida E. Holm, Paul T. Kotzbauer, P. Hogarth, Scott Sonek, Jason Coryell, Thuy Minh Nguyen, Nardo Nardocci, Giovanna Zorzi, Diana Rodriguez, Isabelle Desguerre, Enrico Bertini, Alessandro Simonati, Barbara Levinson, Cristina Dias, Clara Barbot, Inês Carrilho, Mariline Santos, Ibrahim Malik, Jane Gitschier, S. J. Hayflick

    Published 2008
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  12. 12
    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study

    Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study by Miryam Carecchio, Federica Invernizzi, Paulina González-Latapí, Celeste Panteghini, Giovanna Zorzi, Luigi Romito, Vincenzo Leuzzi, Serena Galosi, Chiara Reale, Federica Zibordi, Agnel Praveen Joseph, Maya Topf, Carla Piano, Anna Rita Bentivoglio, F. Girotti, Paolo Morana, Benedetto Morana, Manju A. Kurian, Barbara Garavaglia, Niccolò E. Mencacci, Steven Lubbe, Nardo Nardocci

    Published 2019
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  13. 13
    The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study

    The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study by James Varley, Alastair J.S. Webb, Bettina Balint, Victor S.C. Fung, Kapil D. Sethi, Marina A.J. Tijssen, Timothy Lynch, Shekeeb S. Mohammad, Fiona Britton, Matthew C. Evans, Yael Hacohen, Jean‐Pierre Lin, Nardo Nardocci, Tiziana Granata, Russell C. Dale, Ming Lim, Kailash P. Bhatia, Anthony E. Lang, Sarosh R. Irani

    Published 2018
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  14. 14
    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation by Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, P Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan J. Hayflick, Ivan Gout, Valeria Tiranti

    Published 2013
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  15. 15
    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics

    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics by Tamara Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi‐Fakhari, Jennifer Friedman, Jean‐Pierre Lin, Jonathan W. Mink, Alexander Münchau, Daniela Muñoz, Nardo Nardocci, Belén Pérez‐Dueñas, Zomer Sardar, Chahnez Triki, Hilla Ben‐Pazi, Laura Silveira‐Moriyama, Monica Troncoso‐Schifferli, Kyoko Hoshino, Russell C. Dale, Victor S.C. Fung, Manju A. Kurian, Emmanuel Roze

    Published 2023
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  16. 16
    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron by Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangül, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C. Trembath, Alessandro Simonati, Carolyn Schanen, Colin A. Johnson, Barbara Levinson, C. Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R. Maher, Susan J. Hayflick

    Published 2006
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  17. 17
    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

    De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions by Niccolò E. Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R’Bibo, David S. Lynch, Bettina Balint, Michèl A.A.P. Willemsen, Matthew Adams, Sarah Wiethoff, Kazunori Suzuki, Ceri H. Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F. Lucy Raymond, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Chiara Barzaghi, Barbara Garavaglia, Vincenzo Salpietro, John Hardy, Alan Pittman, Henry Houlden, Manju A. Kurian, Haruhide Kimura, Lisenka E.L.M. Vissers, Nicholas Wood, Kailash P. Bhatia

    Published 2016
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  18. 18
    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia by Niccolò E. Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik, Friedrich Asmus, Marthe H. R. Ludtmann, Mina Ryten, Vincent Plagnol, Ann‐Kathrin Hauser, Sara Bandrés‐Ciga, Conceição Bettencourt, Paola Forabosco, Deborah Hughes, Marc P. M. Soutar, Kathryn J. Peall, Huw R. Morris, Daniah Trabzuni, Mehmet Tekman, Horia Stanescu, Robert Kleta, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia, Ebba Lohmann, Anne Weißbach, Christine Klein, John Hardy, Alan Pittman, Thomas Foltynie, Andrey Y. Abramov, Thomas Gasser, Kailash P. Bhatia, Nicholas Wood

    Published 2015
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  19. 19
    Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

    Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA by Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash P. Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick

    Published 2012
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  20. 20
    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review by Jessica Garau, Vanessa Cavallera, Marialuisa Valente, Davide Tonduti, Daisy Sproviero, Susanna Zucca, Domenica Battaglia, Roberta Battini, Enrico Bertini, Silvia Cappanera, Luisa Chiapparini, Camilla Crasà, Giovanni Crichiutti, Elvio Dalla Giustina, Stefano D’Arrigo, Valentina De Giorgis, Micaela De Simone, Jessica Galli, Roberta La Piana, Tullio Messana, Isabella Moroni, Nardo Nardocci, Celeste Panteghini, Cecilia Parazzini, Anna Pichiecchio, Antonella Pini, Federica Ricci, Veronica Saletti, E. Salvatici, Filippo M. Santorelli, Stefano Sartori, Francesca Tinelli, C. Uggetti, E. Veneselli, Giovanna Zorzi, Barbara Garavaglia, Elisa Fazzi, Simona Orcesi, Cristina Cereda

    Published 2019
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