Rezultati - Andreas Puschmann

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  1. 1
    Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

    Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations od Andreas Puschmann

    Izdano 2013
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  2. 2
    New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

    New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism od Andreas Puschmann

    Izdano 2017
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  3. 3
    Diagnosis and Treatment of Common Forms of Tremor

    Diagnosis and Treatment of Common Forms of Tremor od Andreas Puschmann, Zbigniew K. Wszołek

    Izdano 2011
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  4. 4
    SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

    SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies od Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga

    Izdano 2018
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  5. 5
    New generation genetic testing entering the clinic

    New generation genetic testing entering the clinic od Sorina Gorcenco, Andreea Ilinca, Wejdan Almasoudi, Efthymia Kafantari, Arne Lindgren, Andreas Puschmann

    Izdano 2020
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  6. 6
    Autosomal dominant Parkinson's disease caused by SNCA duplications

    Autosomal dominant Parkinson's disease caused by SNCA duplications od Takuya Konno, Owen A. Ross, Andreas Puschmann, Dennis W. Dickson, Zbigniew K. Wszołek

    Izdano 2015
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  7. 7
    <sup>18</sup>F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in<i>MAPT</i>mutation carriers

    <sup>18</sup>F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in<i>MAPT</i>mutation carriers od Ruben Smith, Andreas Puschmann, Michael Schöll, Tomas Ohlsson, John C. van Swieten, Michael Honer, Elisabet Englund, Oskar Hansson

    Izdano 2016
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  8. 8
    Role of Gα(olf) in familial and sporadic adult-onset primary dystonia

    Role of Gα(olf) in familial and sporadic adult-onset primary dystonia od Satya R. Vemula, Andreas Puschmann, Jianfeng Xiao, Yu Zhao, Monika Rudzińska, Karen Frei, Daniel Truong, Zbigniew K. Wszołek, Mark S. LeDoux

    Izdano 2013
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  9. 9
    Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases

    Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases od Mark S. LeDoux, Jianfeng Xiao, Monika Rudzińska, Robert W. Bastian, Zbigniew K. Wszołek, Jay A. van Gerpen, Andreas Puschmann, Dragana Momčilović, Satya R. Vemula, Yu Zhao

    Izdano 2012
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  10. 10
    Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

    Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke od Andreea Ilinca, Nicolas Martinez‐Majander, Sofie Samuelsson, Paul Piccinelli, Katarina Truvé, John W. Cole, Steven J. Kittner, Maria Soller, Ulf Kristoffersson, Turgut Tatlisumak, Andreas Puschmann, Jukka Putaala, Arne Lindgren

    Izdano 2020
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  11. 11
    Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

    Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease od Joel Wallenius, Efthymia Kafantari, Emma Jhaveri, Sorina Gorcenco, Adam Ameur, Christin Karremo, Sigurd Dobloug, Kristina Karrman, Tom de Koning, Andreea Ilinca, Maria Landqvist Waldö, Andreas Arvidsson, Staffan Persson, Elisabet Englund, Hans Ehrencrona, Andreas Puschmann

    Izdano 2023
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  12. 12
    Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

    Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden od Caroline Ran, Lovisa Brodin, Lars Forsgren, Marie Westerlund, Mehrafarin Ramezani, Sandra Gellhaar, Fengqing Xiang, Camilla Fardell, Hans Nissbrandt, Peter Söderkvist, Andreas Puschmann, Emil Ygland, Lar̀s Olson, Thomas Willows, Anders Johansson, Olof Sydow, Karin Wirdefeldt, Dagmar Galter, Per Svenningsson, Andrea Carmine Belin

    Izdano 2016
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  13. 13
    A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction

    A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction od Andreas Puschmann, Owen A. Ross, Carles Vilariño‐Güell, Sarah Lincoln, Jennifer M. Kachergus, Stephanie A. Cobb, Suzanne Granhøj Lindquist, Jørgen E. Nielsen, Zbigniew K. Wszołek, Matthew J. Farrer, Håkan Widner, Danielle van Westen, Douglas Hägerström, Katerina Markopoulou, Bruce A. Chase, Karin Nilsson, Jan Reimer, Christer Nilsson

    Izdano 2009
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  14. 14
    Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

    Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms od Bianca Tesi, Josef Davidsson, Matthias Voß, Elisa Rahikkala, Tim D. Holmes, Samuel C. C. Chiang, Jonna Komulainen‐Ebrahim, Sorina Gorcenco, A. Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan‐Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka S. Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T. Bryceson

    Izdano 2017
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  15. 15
    The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases

    The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases od Ruben Smith, Francesca Capotosti, Martin Schain, Tomas Ohlsson, Efthymia Vokali, Jérôme Molette, Tanja Touilloux, Valerie Hliva, Ioannis K. Dimitrakopoulos, Andreas Puschmann, Jonas Jögi, Per Svenningsson, Mattias Andréasson, Christine M. Sandiego, David Russell, Patricia Miranda‐Azpiazu, Christer Halldin, Erik Stomrud, Sara Hall, Klas Bratteby, Elina Tampio L’Estrade, Ruth Luthi‐Carter, Andrea Pfeifer, Marie Kosco‐Vilbois, Johannes Streffer, Oskar Hansson

    Izdano 2023
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  16. 16
    Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

    Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3 od Héctor García‐Moreno, Mercedes Prudencio, Gilbert Thomas‐Black, Nita Solanky, Karen Jansen‐West, Rana Hanna Al‐Shaikh, Amanda Heslegrave, Henrik Zetterberg, Magda M. Santana, Luís Pereira de Almeida, Ana Vasconcelos‐Ferreira, Cristina Januário, Jon Infante, Jennifer Faber, Thomas Klockgether, Kathrin Reetz, Mafalda Raposo, Ana F. Ferreira, Manuela Lima, Lüdger Schöls, Matthis Synofzik, Jeannette Hübener‐Schmid, Andreas Puschmann, Sorina Gorcenco, Zbigniew K. Wszołek, Leonard Petrucelli, Paola Giunti

    Izdano 2022
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  17. 17
    Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

    Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism od Andreas Puschmann, Fabienne C. Fiesel, Thomas R. Caulfield, Roman Hudec, Maya Ando, Dominika Truban, Xu Hou, Kotaro Ogaki, Michael G. Heckman, Elle D. James, Maria Swanberg, Itzia Jiménez-Ferrer, Oskar Hansson, Grzegorz Opala, Joanna Siuda, Magdalena Boczarska‐Jedynak, Andrzej Friedman, Dariusz Koziorowski, Jan Aasly, Timothy Lynch, George D. Mellick, Megha Mohan, Peter A. Silburn, Yanosh Sanotsky, Carles Vilariño‐Güell, Matthew J. Farrer, Li Chen, Valina L. Dawson, Ted M. Dawson, Zbigniew K. Wszołek, Owen A. Ross, Wolfdieter Springer

    Izdano 2016
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  18. 18
    Mitochondrial targeting sequence variants of the <i>CHCHD2</i> gene are a risk for Lewy body disorders

    Mitochondrial targeting sequence variants of the <i>CHCHD2</i> gene are a risk for Lewy body disorders od Kotaro Ogaki, Shunsuke Koga, Michael G. Heckman, Fabienne C. Fiesel, Maya Ando, Catherine Labbé, Oswaldo Lorenzo‐Betancor, Elisabeth L. Moussaud-Lamodière, Alexandra I. Soto‐Ortolaza, Ronald L. Walton, Audrey Strongosky, Ryan J. Uitti, Allan McCarthy, Timothy Lynch, Joanna Siuda, Grzegorz Opala, Monika Rudzińska, Anna Krygowska‐Wajs, Maria Barcikowska, K Czyźewski, Andreas Puschmann, Kenya Nishioka, Manabu Funayama, Nobutaka Hattori, Joseph E. Parisi, Ronald C. Petersen, Caroline Graff, Bradley F. Boeve, Wolfdieter Springer, Zbigniew K. Wszołek, Dennis W. Dickson, Owen A. Ross

    Izdano 2015
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  19. 19
    VPS35 Mutations in Parkinson Disease

    VPS35 Mutations in Parkinson Disease od Carles Vilariño‐Güell, Christian Wider, Owen A. Ross, Justus C. Dächsel, Jennifer M. Kachergus, Sarah Lincoln, Alexandra I. Soto‐Ortolaza, Stephanie A. Cobb, Greggory J. Wilhoite, Justin A. Bacon, Bahareh Behrouz, Heather L. Melrose, Emna Hentati, Andreas Puschmann, Daniel M. Evans, Elizabeth Conibear, Wyeth W. Wasserman, Jan Aasly, Pierre R. Burkhard, Ruth Djaldetti, Joseph Ghika, Fayçal Hentati, Anna Krygowska‐Wajs, Tim Lynch, Eldad Melamed, Alex Rajput, Ali H. Rajput, Alessandra Solida, Ruey‐Meei Wu, Ryan J. Uitti, Zbigniew K. Wszołek, François Vingerhoets, Matthew J. Farrer

    Izdano 2011
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  20. 20
    Clinical Correlations With Lewy Body Pathology in<i>LRRK2</i>-Related Parkinson Disease

    Clinical Correlations With Lewy Body Pathology in<i>LRRK2</i>-Related Parkinson Disease od Lorraine V. Kalia, Anthony E. Lang, Lili‐Naz Hazrati, Shinsuke Fujioka, Zbigniew K. Wszołek, Dennis W. Dickson, Owen A. Ross, Vivianna M. Van Deerlin, John Q. Trojanowski, Howard I. Hurtig, Roy N. Alcalay, Karen Marder, Lorraine N. Clark, Carles Gaig, Eduardo Tolosa, Javier Ruiz‐Martínez, J.F. Martí-Massó, Isidró Ferrer, Adolfo López de Munaín, Samuel M. Goldman, Birgitt Schüle, J. William Langston, Jan Aasly, Maria Teresa Giordana, Vincenzo Bonifati, Andreas Puschmann, Margherita Canesi, Gianni Pezzoli, A. Maues de Paula, Kazuko Hasegawa, Charles Duyckaerts, Alexis Brice, A. Jon Stoessl, Connie Marras

    Izdano 2014
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