Výsledky vyhledávání - Miryam Carecchio

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  1. 1
    Emerging Monogenic Complex Hyperkinetic Disorders

    Emerging Monogenic Complex Hyperkinetic Disorders Autor Miryam Carecchio, Niccolò E. Mencacci

    Vydáno 2017
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  2. 2
    Revisiting the Molecular Mechanism of Neurological Manifestations in Antiphospholipid Syndrome: Beyond Vascular Damage

    Revisiting the Molecular Mechanism of Neurological Manifestations in Antiphospholipid Syndrome: Beyond Vascular Damage Autor Miryam Carecchio, Roberto Cantello, Cristoforo Comi

    Vydáno 2014
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  3. 3
    The clinical and genetic spectrum of primary familial brain calcification

    The clinical and genetic spectrum of primary familial brain calcification Autor Miryam Carecchio, Michele Mainardi, Giulia Bonato

    Vydáno 2023
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  4. 4
    Olfactory and rhinological evaluations in SARS-CoV-2 patients complaining of olfactory loss

    Olfactory and rhinological evaluations in SARS-CoV-2 patients complaining of olfactory loss Autor Giancarlo Ottaviano, Miryam Carecchio, Bruno Scarpa, Rosario Marchese‐Ragona

    Vydáno 2020
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  5. 5
    Peripheral nervous system involvement in Parkinson's disease: Evidence and controversies

    Peripheral nervous system involvement in Parkinson's disease: Evidence and controversies Autor Cristoforo Comi, Luca Magistrelli, Gaia Donata Oggioni, Miryam Carecchio, Thomas Fleetwood, Roberto Cantello, Francesca Mancini, Angelo Antonini

    Vydáno 2014
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  6. 6
    Clinical, cognitive, and morphometric profiles of progressive supranuclear palsy phenotypes

    Clinical, cognitive, and morphometric profiles of progressive supranuclear palsy phenotypes Autor Marta Campagnolo, Luca Weis, Carmelo Fogliano, Valeria Cianci, Michela Garon, Eleonora Fiorenzato, Miryam Carecchio, Florinda Ferreri, Patrizia Bisiacchi, Angelo Antonini, Roberta Biundo

    Vydáno 2023
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  7. 7
    Partial loss-of-function of sodium channel <i>SCN8A</i> in familial isolated myoclonus

    Partial loss-of-function of sodium channel <i>SCN8A</i> in familial isolated myoclonus Autor Jacy L. Wagnon, Niccolò E. Mencacci, Bryan S. Barker, Eric R. Wengert, Kailash P. Bhatia, Bettina Balint, Miryam Carecchio, Nicholas Wood, Manoj K. Patel, Miriam H. Meisler

    Vydáno 2018
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  8. 8
    Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease

    Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converte... Autor Miryam Carecchio, Chiara Fenoglio, Milena De Riz, Ilaria Guidi, Cristoforo Comi, Francesca Cortini, E. Venturelli, Ilaria Restelli, Claudia Cantoni, Nereo Bresolin, Francesco Monaco, Elio Scarpini, Daniela Galimberti

    Vydáno 2009
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  9. 9
    Scoping Review on<scp>ADCY5</scp>‐Related Movement Disorders

    Scoping Review on<scp>ADCY5</scp>‐Related Movement Disorders Autor Poornima Jayadev Menon, Christelle Nilles, Laura Silveira‐Moriyama, Ruiyi Yuan, Claudio M. de Gusmão, Alexander Münchau, Miryam Carecchio, Steve Grossman, Gay Grossman, Aurélie Méneret, Emmanuel Roze, Tamara Pringsheim

    Vydáno 2023
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  10. 10
    Duodenal <scp>alpha‐Synuclein</scp> Pathology and Enteric Gliosis in Advanced Parkinson's Disease

    Duodenal <scp>alpha‐Synuclein</scp> Pathology and Enteric Gliosis in Advanced Parkinson's Disease Autor Aron Emmi, Michele Sandre, Francesco Paolo Russo, Giulia Tombesi, Federica Garrì, Marta Campagnolo, Miryam Carecchio, Roberta Biundo, Gaya Spolverato, Veronica Macchi, Edoardo Savarino, Fabio Farinati, Piero Parchi, Andrea Porzionato, Luigi Bubacco, Raffaele De, Gábor G. Kovács, Angelo Antonini

    Vydáno 2023
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  11. 11
    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 Autor 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

    Vydáno 2025
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  12. 12
    Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay

    Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay Autor Wendy Heywood, Daniela Galimberti, Emily Bliss, Ernestas Sirka, Ross W. Paterson, Nadia Magdalinou, Miryam Carecchio, Emma Reid, Amanda Heslegrave, Chiara Fenoglio, Elio Scarpini, Jonathan M. Schott, Nick C. Fox, John Hardy, Kailash Bahtia, Simon Heales, Neil J. Sebire, Henrik Zetterburg, Kevin Mills

    Vydáno 2015
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  13. 13
    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 Autor 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

    Vydáno 2017
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  14. 14
    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 Autor 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

    Vydáno 2019
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  15. 15
    Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

    Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants Autor Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara Borroni, Andrea Bordugo, Francesco Brancati, Cinzia Valeria Russo, Maja Di Rocco, António Toscano, Maurizio Scarpa, Bruno Bembi

    Vydáno 2020
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  16. 16
    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 Autor 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

    Vydáno 2016
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  17. 17
    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

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

    Vydáno 2015
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  18. 18
    Primary brain calcification: an international study reporting novel variants and associated phenotypes

    Primary brain calcification: an international study reporting novel variants and associated phenotypes Autor Eliana Marisa Ramos, Miryam Carecchio, Roberta R. Lemos, Joana Ferreira, Andrea Legati, Renee Sears, Sandy Hsu, Celeste Panteghini, Luca Magistrelli, Ettore Salsano, Silvia Esposito, Franco Taroni, Anne‐Claire Richard, Christine Tranchant, Mathieu Anheim, Xavier Ayrignac, Cyril Goizet, Marie Vidailhet, David Maltête, David Wallon, Thierry Frébourg, Lylyan Fragoso Pimentel, Daniel H. Geschwind, Olivier Vanakker, Douglas Galasko, Brent L. Fogel, A. Micheil Innes, Alison Ross, William B. Dobyns, Diana Alcantara, Mark O’Driscoll, Didier Hannequin, Dominique Campion, João Ricardo Mendes de Oliveira, Barbara Garavaglia, Giovanni Coppola, Gaël Nicolas

    Vydáno 2018
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  19. 19
    <scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

    <scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia Autor Demy J.S. Kuipers, Wim Mandemakers, Chin‐Song Lu, Simone Olgiati, Guido J. Breedveld, Christina Fevga, Vera Tadić, Miryam Carecchio, Bradley Osterman, Lena Sagi‐Dain, Yah‐Huei Wu‐Chou, Chiung C. Chen, Hsiu‐Chen Chang, Shey‐Lin Wu, Tu‐Hsueh Yeh, Yi‐Hsin Weng, Antonio E. Elia, Celeste Panteghini, Nicolas Marotta, Martje G. Pauly, Andrea A. Kühn, Jens Volkmann, Baiba Lāce, Inge A. Meijer, Krishna Kumar Kandaswamy, Marialuisa Quadri, Barbara Garavaglia, Katja Lohmann, Peter Bauer, Niccolò E. Mencacci, Steven Lubbe, Christine Klein, Aida M. Bertoli‐Avella, Vincenzo Bonifati

    Vydáno 2020
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