Søgeresultater - Niccolò E. Mencacci

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  1. 1
    Emerging Monogenic Complex Hyperkinetic Disorders

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

    Udgivet 2017
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  2. 2
    The Emerging Role of Phosphodiesterases in Movement Disorders

    The Emerging Role of Phosphodiesterases in Movement Disorders af Roberto Erro, Niccolò E. Mencacci, Kailash P. Bhatia

    Udgivet 2021
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  3. 3
    Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

    Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency af María Stamelou, Niccolò E. Mencacci, Carla Cordivari, Amit Batla, Nicholas Wood, Henry Houlden, John Hardy, Kailash P. Bhatia

    Udgivet 2012
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  4. 4
    Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease

    Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease af Andrea Ciammola, Jenny Sassone, Monica Sciacco, Niccolò E. Mencacci, Michela Ripolone, Caterina Bizzi, Clarissa Colciago, Maurizio Moggio, Gianfranco Parati, Vincenzo Silani, Gabriella Malfatto

    Udgivet 2010
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  5. 5
    Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson’s disease

    Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson’s disease af Ivana Celardo, A C Costa, Susann Lehmann, Chris Jones, Nicholas Wood, Niccolò E. Mencacci, Giovanna R. Mallucci, S H Y Loh, L. Miguel Martins

    Udgivet 2016
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  6. 6
    Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort

    Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort af Sophie Winder‐Rhodes, Jonathan Evans, Maria Ban, Sarah Mason, Caroline H. Williams‐Gray, Thomas Foltynie, Raquel Durán, Niccolò E. Mencacci, Stephen Sawcer, Roger A. Barker

    Udgivet 2013
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  7. 7
    <i>ADCY5</i> mutations are another cause of benign hereditary chorea

    <i>ADCY5</i> mutations are another cause of benign hereditary chorea af Niccolò E. Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, María Stamelou, Niall Quinn, Henry Houlden, Nicholas Wood, Kailash P. Bhatia

    Udgivet 2015
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  8. 8
    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 af 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

    Udgivet 2018
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  9. 9
    GBA-Associated Parkinson’s Disease: Progression in a Deep Brain Stimulation Cohort

    GBA-Associated Parkinson’s Disease: Progression in a Deep Brain Stimulation Cohort af Vanessa Lythe, Dilan Athauda, Jennifer A. Foley, Niccolò E. Mencacci, Marjan Jahanshahi, Lisa Cipolotti, Jonathan A. Hyam, Ludvic Zrinzo, Marwan Hariz, John Hardy, Patricia Limousin, Thomas Foltynie

    Udgivet 2017
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  10. 10
    Long-term Clinical Outcome of Fetal Cell Transplantation for Parkinson Disease

    Long-term Clinical Outcome of Fetal Cell Transplantation for Parkinson Disease af Zinovia Kefalopoulou, Marios Politis, Paola Piccini, Niccolò E. Mencacci, Kailash P. Bhatia, Marjan Jahanshahi, Håkan Widner, Stig Rehncrona, Patrik Brundin, Anders Björklund, Olle Lindvall, Patricia Limousin, Niall Quinn, Thomas Foltynie

    Udgivet 2013
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  11. 11
    PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease

    PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease af Alastair Noyce, Lea R’Bibo, Luisa Peress, Jonathan P. Bestwick, Kerala Adams-Carr, Niccolò E. Mencacci, Christopher H. Hawkes, Joseph M. Masters, Nicholas Wood, John Hardy, Gavin Giovannoni, Andrew J. Lees, Anette Schrag

    Udgivet 2017
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  12. 12
    Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation

    Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation af A. Angeli, Niccolò E. Mencacci, Raquel Durán, Icíar Avilés-Olmos, Zinovia Kefalopoulou, Joseph Candelario, Sarah Rusbridge, Jennifer A. Foley, Priyanka Pradhan, Marjan Jahanshahi, Ludvic Zrinzo, Marwan Hariz, Nicholas Wood, John Hardy, Patricia Limousin, Thomas Foltynie

    Udgivet 2013
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  13. 13
    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea

    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea af Vincenzo Salpietro, Belén Pérez‐Dueñas, Kosuke Nakashima, Victoria San Antonio‐Arce, Andreea Manole, Stéphanie Efthymiou, Jana Vandrovcová, Conceição Bettencourt, Niccolò E. Mencacci, Christine Klein, Michy P. Kelly, Ceri H. Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden

    Udgivet 2018
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  14. 14
    Parkin Disease

    Parkin Disease af Karen A. Doherty, Laura Silveira‐Moriyama, Laura Parkkinen, Daniel G. Healy, Michael Farrell, Niccolò E. Mencacci, Zeshan Ahmed, Francesca Brett, John Hardy, Niall Quinn, Timothy J. Counihan, Timothy Lynch, Zoë Fox, Tamás Révész, Andrew J. Lees, Janice L. Holton

    Udgivet 2013
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  15. 15
    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia af Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine A. Fawcett, Vincent Plagnol, Kailash P. Bhatia, Alan Medlar, Horia Stanescu, John Hardy, Robert Kleta, Nicholas Wood, Henry Houlden

    Udgivet 2012
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  16. 16
    The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

    The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease af Raquel Durán, Niccolò E. Mencacci, Aikaterini V. Angeli, Maryam Shoai, Emma Deas, Henry Houlden, Atul Mehta, Derralynn Hughes, Timothy M. Cox, Patrick Deegan, Anthony H.V. Schapira, Andrew J. Lees, Patricia Limousin, Paul Jarman, Kailash P. Bhatia, Nicholas Wood, John Hardy, Thomas Foltynie

    Udgivet 2012
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  17. 17
    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 af 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

    Udgivet 2017
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  18. 18
    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 af 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

    Udgivet 2019
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  19. 19
    Genetic Testing in Parkinson's Disease

    Genetic Testing in Parkinson's Disease af Gian Pal, Lola Cook, Jeanine Schulze, Jennifer Verbrugge, Roy N. Alcalay, Marcelo Merello, Carolyn M. Sue, Soraya Bardien, Vincenzo Bonifati, Sun Ju Chung, Tatiana Foroud, Emilia Gatto, Anne Hall, Nobutaka Hattori, Tim Lynch, Karen Marder, Deborah Mascalzoni, Ivana Novaković, Avner Thaler, Deborah Raymond, Mehri Salari, Ali Shalash, Oksana Suchowersky, Niccolò E. Mencacci, Tanya Simuni, Rachel Saunders‐Pullman, Christine Klein

    Udgivet 2023
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  20. 20
    Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

    Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2) af Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio Juan Keller Sarmiento, Ai Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih‐Hua Fang, Peter Heutink, Kishore R. Kumar, Shen‐Yang Lim, Enza Maria Valente, Mike A. Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Katja Lohmann, Christine Klein

    Udgivet 2023
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