检索结果 - Patrizia Rizzu
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DJ-1 Transcriptionally Up-regulates the Human Tyrosine Hydroxylase by Inhibiting the Sumoylation of Pyrimidine Tract-binding Protein-associated Splicing Factor 由 Nan Zhong, Christina Y. Kim, Patrizia Rizzu, Changiz Geula, Douglas R. Porter, Emmanuel N. Pothos, Ferdinando Squitieri, Peter Heutink, Jin Xu
出版 2006Artigo -
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Brain DNA methylomic analysis of frontotemporal lobar degeneration reveals OTUD4 in shared dysregulated signatures across pathological subtypes 由 Katherine Fodder, Megha Murthy, Patrizia Rizzu, Christina E. Toomey, Rahat Hasan, Jack Humphrey, Towfique Raj, Katie Lunnon, Jonathan Mill, Peter Heutink, Tammaryn Lashley, Conceição Bettencourt
出版 2023Revisão -
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Proteomic and Functional Analyses Reveal a Mitochondrial Dysfunction in P301L Tau Transgenic Mice 由 Della David, Susanne Hauptmann, Isabel Scherping, Katrin Schuessel, Uta Keil, Patrizia Rizzu, Rivka Ravid, Stefan Dröse, Ulrich Brandt, Wernér E.G. Müller, Anne Eckert, Jürgen Götz
出版 2005Artigo -
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Hereditary frontotemporal dementia is linked to chromosome 17q21—q22: A genetic and clinicopathological study of three dutch families 由 Peter Heutink, M Stevens, Patrizia Rizzu, Egbert Bakker, J. M. Kros, Aad Tibben, Martinus F. Niermeijer, Cornelia M. van Duijn, B. A. Oostra, John C. van Swieten
出版 1997Artigo -
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C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers 由 Patrizia Rizzu, Cornelis Blauwendraat, Sasja Heetveld, Emily M. Lynes, Melissa Castillo-Lizardo, Ashutosh Dhingra, Elwira Pyż, Markus A. Hobert, Matthis Synofzik, Javier Simón‐Sánchez, Margherita Francescatto, Peter Heutink
出版 2016Artigo -
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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects 由 Cornelis Blauwendraat, Carlo Wilke, Javier Simón‐Sánchez, Iris E. Jansen, Anika Reifschneider, Anja Capell, Christian Haass, Melissa Castillo-Lizardo, Saskia Biskup, Walter Maetzler, Patrizia Rizzu, Peter Heutink, Matthis Synofzik
出版 2017Artigo -
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Blood–brain barrier P-glycoprotein function in healthy subjects and Alzheimer's disease patients: effect of polymorphisms in the ABCB1 gene 由 Daniëlle ME van Assema, Mark Lubberink, Patrizia Rizzu, John C. van Swieten, Robert C. Schuit, Jonas Eriksson, Philip Scheltens, Matthias J. Koepp, Adriaan A. Lammertsma, Bart N.M. van Berckel
出版 2012Artigo -
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DJ-1 protects the nigrostriatal axis from the neurotoxin MPTP by modulation of the AKT pathway 由 Hossein Aleyasin, Maxime W.C. Rousseaux, Paul C. Marcogliese, Sarah J. Hewitt, Isabella Irrcher, Alvin Joselin, Mohammad Parsanejad, Raymond H. Kim, Patrizia Rizzu, Steve Callaghan, Ruth S. Slack, Tak W. Mak, David S. Park
出版 2010Artigo -
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High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands 由 Patrizia Rizzu, John C. van Swieten, Marijke Joosse, Masato Hasegawa, Martijn Stevens, Aad Tibben, Martinus F. Niermeijer, Marcel Hillebrand, Rivka Ravid, Ben A. Oostra, Michel Goedert, Cornelia M. van Duijn, Peter Heutink
出版 1999Artigo -
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TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations 由 Harro Seelaar, Helenius J. Schelhaas, Asma Azmani, Benno Küsters, S. Rosso, Daniëlle Majoor‐Krakauer, M. C. de Rijik, Patrizia Rizzu, M. ten Brummelhuis, Pieter A. van Doorn, Wouter Kamphorst, Rob Willemsen, John C. van Swieten
出版 2007Artigo -
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Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia 由 Elise G.P. Dopper, Serge A.R.B. Rombouts, Lize C. Jiskoot, Tom den Heijer, J. Roos A. de Graaf, Inge de Koning, Anke R. Hammerschlag, Harro Seelaar, William W. Seeley, Ilya M. Veer, Mark A. van Buchem, Patrizia Rizzu, John C. van Swieten
出版 2013Artigo -
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Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia 由 Elise G.P. Dopper, Serge A.R.B. Rombouts, Lize C. Jiskoot, Tom den Heijer, J. Roos A. de Graaf, Inge de Koning, Anke R. Hammerschlag, Harro Seelaar, William W. Seeley, Ilya M. Veer, Mark A. van Buchem, Patrizia Rizzu, John C. van Swieten
出版 2014Artigo -
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A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia 由 Ana I. Seixas, Joana R. Loureiro, Cristina Costa, Andrés Ordóñez‐Ugalde, Hugo Marcelino, Cláudia Oliveira, José L. Loureiro, Ashutosh Dhingra, Eva Brandão, Vítor Tedim Cruz, Ângela Timóteo, Beatriz Quintáns, Guy A. Rouleau, Patrizia Rizzu, Ãngel Carracedo, José Bessa, Peter Heutink, Jorge Sequeiros, María Jesús Sobrido, Paula Coutinho, Isabel Silveira
出版 2017Artigo -
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Enhancers active in dopamine neurons are a primary link between genetic variation and neuropsychiatric disease 由 Xianjun Dong, Zhixiang Liao, David Gritsch, Yavor Hadzhiev, Yunfei Bai, Joseph J. Locascio, Boris Guennewig, Ganqiang Liu, Cornelis Blauwendraat, Tao Wang, Charles H. Adler, John C. Hedreen, Richard L. M. Faull, Matthew P. Frosch, Peter T. Nelson, Patrizia Rizzu, Antony A. Cooper, Peter Heutink, Thomas G. Beach, John S. Mattick, Ferenc Müller, Clemens R. Scherzer
出版 2018Artigo -
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Genome-wide association study confirms extant PD risk loci among the Dutch 由 Javier Simón‐Sánchez, Jacobus J. van Hilten, Bart van de Warrenburg, Bart Post, Henk W. Berendse, Sampath Arepalli, Dena G Hernandez, Rob M.A. de Bie, Daan C. Velseboer, Hans Scheffer, Bas R. Bloem, Karin D van Dijk, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Patrizia Rizzu, Zoltán Bochdanovits, Andrew B. Singleton, Peter Heutink
出版 2011Artigo -
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β2-Adrenoreceptor is a regulator of the α-synuclein gene driving risk of Parkinson’s disease 由 Shuchi Mittal, Kjetil Bjørnevik, Doo Soon Im, Adrian Flierl, Xianjun Dong, Joseph J. Locascio, Kristine M. Abo, Elizabeth Long, Ming Jin, Bing Xu, Yang Xiang, Jean‐Christophe Rochet, Anders Engeland, Patrizia Rizzu, Peter Heutink, Tim Bartels, Dennis J. Selkoe, Barbara J. Caldarone, Marcie A. Glicksman, Vikram Khurana, Birgitt Schüle, David S. Park, Trond Riise, Clemens R. Scherzer
出版 2017Artigo -
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The Netherlands Twin Register Biobank: A Resource for Genetic Epidemiological Studies 由 Gonneke Willemsen, Eco J. C. de Geus, Meike Bartels, C.E.M. van Beijsterveldt, Andy Brooks, G. Frederique Estourgie-van Burk, Douglas A. Fugman, Chantal Hoekstra, Jouke‐Jan Hottenga, Kees Kluft, Piet Meijer, Grant W. Montgomery, Patrizia Rizzu, David Sondervan, August B. Smit, Sabine Spijker, H. Eka D. Suchiman, Jay A. Tischfield, Thomas Lehner, P. Eline Slagboom, Dorret I. Boomsma
出版 2010Artigo -
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Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics 由 Isabella Irrcher, Hossein Aleyasin, Erin L. Seifert, Sarah J. Hewitt, Shivani Chhabra, Melissa Phillips, A. Kathrin Lutz, Maxime W.C. Rousseaux, Lisa Bevilacqua, Arezu Jahani‐Asl, Steve Callaghan, Jason G. MacLaurin, Konstanze F. Winklhofer, Patrizia Rizzu, Peter Rippstein, Raymond H. Kim, C.X. Chen, Edward A. Fon, Ruth S. Slack, Mary‐Ellen Harper, Heidi M. McBride, Tak W. Mak, David S. Park
出版 2010Artigo
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Biology
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Gene
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Dementia
Frontotemporal dementia
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Internal medicine
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Computational biology
Parkinson's disease
Single-nucleotide polymorphism
Cell biology
Genome-wide association study
Alzheimer's disease
Biochemistry
Mutation
RNA
Allele
Candidate gene
Exon
Frontotemporal lobar degeneration
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Oxidative stress
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