Rezultati - Giovanna Zorzi

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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 od Nardo Nardocci, Giovanna Zorzi, Chiara Barzaghi, Federica Zibordi, José Berciano, Daniele Ghezzi, Barbara Garavaglia

    Izdano 2007
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  2. 2
    Intrafamilial Variability in <scp><i>WARS2</i></scp>‐Related Disorder: A Family Case

    Intrafamilial Variability in <scp><i>WARS2</i></scp>‐Related Disorder: A Family Case od Federica Graziola, Federica Rachele Danti, Giorgia Segre, Morgana Fregonese, Rossella Izzo, Eleonora Lamentea, Daniele Ghezzi, Anna Ardissone, Giovanna Zorzi

    Izdano 2025
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  3. 3
    Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction

    Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction od Gonzalo P. Solis, Federica Rachele Danti, Yonika Arum Larasati, Federica Graziola, Carolina Croci, Elisa Osanni, Alexey Koval, Giovanna Zorzi, Vladimir L. Katanaev

    Izdano 2025
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  4. 4
    Sporadic and familial glut1ds Italian patients: A wide clinical variability

    Sporadic and familial glut1ds Italian patients: A wide clinical variability od 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

    Izdano 2014
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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 od 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

    Izdano 2023
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  6. 6
    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN) od 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

    Izdano 2016
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  7. 7
    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

    Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations od 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

    Izdano 2011
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  8. 8
    Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes

    Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes od Ahmet Kaymak, Fabiana Colucci, Mahboubeh Ahmadipour, Nico Golfrè Andreasi, Sara Rinaldo, Zvi Israel, David Arkadir, Roberta Telese, Vincenzo Levi, Giovanna Zorzi, Jacopo Carpaneto, Miryam Carecchio, Holger Prokisch, Michael Zech, Barbara Garavaglia, Hagai Bergman, Roberto Eleopra, Alberto Mazzoni, Luigi Romito

    Izdano 2025
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  9. 9
    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 od 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

    Izdano 2017
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  10. 10
    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub>

    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub> od 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

    Izdano 2008
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  11. 11
    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 od 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

    Izdano 2019
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  12. 12
    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 od 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

    Izdano 2013
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  13. 13
    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 od 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

    Izdano 2006
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  14. 14
    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 od 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

    Izdano 2016
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  15. 15
    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia od 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

    Izdano 2015
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  16. 16
    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 od 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

    Izdano 2012
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  17. 17
    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 od 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

    Izdano 2019
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  18. 18
    Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

    Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation od Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry Houlden, James C. Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Kenton R. Holden, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Cyril Mignot, Delphine Héron, Dawn E. Saunders, Margaret Kaminska, Jean‐Pierre Lin, Karine Lascelles, Stephan M. Cuno, Esther Meyer, Barbara Garavaglia, Kailash P. Bhatia, Rajith de Silva, Sarah Crisp, Peter Lunt, Martyn Carey, John Hardy, Thomas Meitinger, Holger Prokisch, Penelope Hogarth

    Izdano 2013
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  19. 19
    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... od Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann

    Izdano 2020
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  20. 20
    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia od Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann

    Izdano 2025
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