檢索結果 - Marialuisa Quadri

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  1. 1
    Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

    Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia 由 Marialuisa Quadri, Giovanni Cossu, Valeria Saddi, Erik Simons, Daniela Murgia, Maurizio Melis, Anna Ticca, Ben A. Oostra, Vincenzo Bonifati

    出版 2011
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  2. 2
    Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family

    Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family 由 Simone Olgiati, Astrid Thomas, Marialuisa Quadri, Guido J. Breedveld, Josja Graafland, Hubertus Eussen, Hannie Douben, Annelies de Klein, Marco Onofrj, Vincenzo Bonifati

    出版 2015
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  3. 3
    Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies

    Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies 由 Tim E. Moors, Silvia Paciotti, Angela Ingrassia, Marialuisa Quadri, Guido J. Breedveld, Anna Tasegian, Davide Chiasserini, Paolo Eusebi, Gonzalo Durán-Pacheco, Thomas Kremer, Paolo Calabresi, Vincenzo Bonifati, Lucilla Parnetti, Tommaso Beccari, Wilma D.J. van de Berg

    出版 2018
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  4. 4
    Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

    Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease 由 Marialuisa Quadri, Antonio Federico, Tianna Zhao, Guido J. Breedveld, Carla Battisti, Cathérine C.S. Delnooz, Lies-Anne Severijnen, Lara Di Toro Mammarella, Andrea Mignarri, Lucia Monti, Antioco Sanna, Peng Lü, Francesca Punzo, Giovanni Cossu, Rob Willemsen, Fabrizio Rasi, Ben A. Oostra, Bart P. van de Warrenburg, Vincenzo Bonifati

    出版 2012
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  5. 5
    A <scp>Large‐Scale</scp> Full <scp><i>GBA1</i></scp> Gene Screening in Parkinson's Disease in the Netherlands

    A <scp>Large‐Scale</scp> Full <scp><i>GBA1</i></scp> Gene Screening in Parkinson's Disease in the Netherlands 由 Jonas M. den Heijer, Valerie Cullen, Marialuisa Quadri, Arnoud Schmitz, Dana Hilt, Peter T. Lansbury, Henk W. Berendse, Wilma D.J. van de Berg, Rob M.A. de Bie, Jeffrey M. Boertien, Agnita J.W. Boon, Maria Fiorella Contarino, Jacobus J. van Hilten, Jorrit I. Hoff, Tom van Mierlo, Alex G. Munts, Anne A. van der Plas, Mirthe M. Ponsen, Frank Baas, Daniëlle Majoor‐Krakauer, Vincenzo Bonifati, Teus van Laar, Geert Jan Groeneveld

    出版 2020
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  6. 6
    <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 由 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

    出版 2020
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  7. 7
    Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

    Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia 由 Femke M.S. de Vrij, Christian G. Bouwkamp, Nilhan Gunhanlar, Guy Shpak, Bas Lendemeijer, Maarouf Baghdadi, Shreekara Gopalakrishna, Mehrnaz Ghazvini, Tracy Li, Marialuisa Quadri, Simone Olgiati, Guido J. Breedveld, Michiel Coesmans, Edwin Mientjes, Ton de Wit, Frans W. Verheijen, H. Berna Beverloo, Dan Cohen, Rob Kok, P. Roberto Bakker, Aviva Nijburg, Annet T. Spijker, P.M.J. Haffmans, Erik Hoencamp, Veerle Bergink, Jacob Vorstman, Timothy Wu, Loes M. Olde Loohuis, Najaf Amin, C. D. de LANGEN, Albert Hofman, Witte J.G. Hoogendijk, Cornelia M. van Duijn, M. Arfan Ikram, Meike W. Vernooij, Henning Tiemeier, André G. Uitterlinden, Ype Elgersma, Ben Distel, Joost Gribnau, Tonya White, Vincenzo Bonifati, Steven A. Kushner

    出版 2018
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  8. 8
    LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

    LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study 由 Marialuisa Quadri, Wim Mandemakers, Martyna M. Grochowska, Roy Masius, Hanneke Geut, Edito Fabrizio, Guido J. Breedveld, Demy J.S. Kuipers, Michelle Minneboo, Leonie J.M. Vergouw, Ana Carreras Mascaro, Ekaterina Yonova-Doing, Erik Simons, Tianna Zhao, Alessio Di Fonzo, Hsiu‐Chen Chang, Piero Parchi, Marta Melis, Leonor Correia Guedes, Chiara Criscuolo, Astrid Thomas, Rutger W. W. Brouwer, Daphne Heijsman, Angela Ingrassia, Giovanna Calandra‐Buonaura, Janneke P.A Rood, Sabina Capellari, Annemieke J.M. Rozemüller, Marianna Sarchioto, Hsin Fen Chien, Nicola Vanacore, Simone Olgiati, Yah-Huei Wu-Chou, Tu‐Hsueh Yeh, Agnita J.W. Boon, Susanne E. Hoogers, Mehrnaz Ghazvini, Arne IJpma, Wilfred F. J. van IJcken, Marco Onofrj, Paolo Barone, David Nicholl, Andreas Puschmann, Michele De Mari, Anneke J.A. Kievit, Egberto Reis Barbosa, Giuseppe De Michele, Daniëlle Majoor‐Krakauer, John C. van Swieten, Frank Jan de Jong, Joaquim J. Ferreira, Giovanni Cossu, Chin‐Song Lu, G. Meco, Pietro Cortelli, Wilma D.J. van de Berg, Vincenzo Bonifati, Vincenzo Bonifati, Marialuisa Quadri, Wim Mandemakers, Anneke J.A. Kievit, Agnita J.W. Boon, Janneke P.A Rood, Leonie J.M. Vergouw, Frank Jan de Jong, John C. van Swieten, Francesco Mattace‐Raso, Klaus L. Leenders, Joaquim J. Ferreira, Leonor Correia Guedes, Andreas Puschmann, Emil Ygland, Christer Nilsson, Hsin Fen Chien, Egberto Reis Barbosa, Laura Bannach Jardim, Carlos Roberto de Mello Rieder, Hsiu‐Chen Chang, Chin‐Song Lu, Yah-Huei Wu-Chou, Tu‐Hsueh Yeh, Leonardo Lopiano, Cristina Tassorelli, C. Pacchetti, Giulio Riboldazzi, Giorgio Bono, Cristoforo Comi, Alessandro Padovani, Barbara Borroni, Francesco Raudino, E. Fincati, Michèle Tinazzi, A. Bonizzato, C Ferracci, A. Dalla Libera, Giovanni Abbruzzese, Pietro Cortelli, Sabina Capellari, Roberto Marconi, Marco Guidi

    出版 2018
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