Works matching AU Klein, Christine

Results: 474
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    New insights from a Malaysian real-world deep brain stimulation cohort.

    Published in:
    Journal of Parkinson's Disease, 2025, v. 15, n. 1, p. 189, doi. 10.1177/1877718X241297715
    By:
    • Dy Closas, Alfand Marl F.;
    • Tan, Ai Huey;
    • Tay, Yi Wen;
    • Hor, Jia Wei;
    • Toh, Tzi Shin;
    • Lim, Jia Lun;
    • Lew, Choey Yee;
    • Cham, Chun Yoong;
    • Yim, Carolyn Chue Wai;
    • Chee, Kok Yoon;
    • Ng, Chong Guan;
    • Lit, Lei Cheng;
    • Anuar, Anis Nadhirah Khairul;
    • Lange, Lara M.;
    • Fang, Zih-Hua;
    • Ciga, Sara Bandres;
    • Lohmann, Katja;
    • Klein, Christine;
    • Ahmad-Annuar, Azlina;
    • Muthusamy, Kalai Arasu
    Publication type:
    Article
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    Parkinson's Disease Subtypes: Critical Appraisal and Recommendations.

    Published in:
    Journal of Parkinson's Disease, 2021, v. 11, n. 2, p. 395, doi. 10.3233/JPD-202472
    By:
    • Mestre, Tiago A.;
    • Fereshtehnejad, Seyed-Mohammad;
    • Berg, Daniela;
    • Bohnen, Nicolaas I.;
    • Dujardin, Kathy;
    • Erro, Roberto;
    • Espay, Alberto J.;
    • Halliday, Glenda;
    • van Hilten, Jacobus J.;
    • Hu, Michele T.;
    • Jeon, Beomseok;
    • Klein, Christine;
    • Leentjens, Albert F.G.;
    • Marinus, Johan;
    • Mollenhauer, Brit;
    • Postuma, Ronald;
    • Rajalingam, Rajasumi;
    • Rodríguez-Violante, Mayela;
    • Simuni, Tanya;
    • Surmeier, D. James
    Publication type:
    Article
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    Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

    Published in:
    Neurogenetics, 2007, v. 8, n. 2, p. 103, doi. 10.1007/s10048-006-0072-y
    By:
    • Grünewald, Anne;
    • Breedveld, Guido;
    • Lohmann-Hedrich, Katja;
    • Rohé, Christan;
    • König, Inke;
    • Hagenah, Johann;
    • Vanacore, Nicola;
    • Meco, Giuseppe;
    • Antonini, Angelo;
    • Goldwurm, Stefano;
    • Lesage, Suzanne;
    • Dürr, Alexandra;
    • Binkofski, Ferdinand;
    • Siebner, Hartwig;
    • Münchau, Alexander;
    • Brice, Alexis;
    • Oostra, Ben;
    • Klein, Christine;
    • Bonifati, Vincenzo
    Publication type:
    Article
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    Unraveling Cellular Phenotypes of Novel TorsinA/TOR1 A Mutations.

    Published in:
    Human Mutation, 2014, v. 35, n. 9, p. 1114, doi. 10.1002/humu.22604
    By:
    • Vulinovic, Franca;
    • Lohmann, Katja;
    • Rakovic, Aleksandar;
    • Capetian, Philipp;
    • Alvarez‐Fischer, Daniel;
    • Schmidt, Alexander;
    • Weißbach, Anne;
    • Erogullari, Alev;
    • Kaiser, Frank J.;
    • Wiegers, Karin;
    • Ferbert, Andreas;
    • Rolfs, Arndt;
    • Klein, Christine;
    • Seibler, Philip
    Publication type:
    Article
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    Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

    Published in:
    Human Mutation, 2004, v. 24, n. 4, p. 321, doi. 10.1002/humu.20089
    By:
    • Hering, Robert;
    • Strauss, Karsten M.;
    • Tao, Xiao;
    • Bauer, Andreas;
    • Woitalla, Dirk;
    • Mietz, Eva-Maria;
    • Petrovic, Slobodanka;
    • Bauer, Peter;
    • Schaible, Wilhelm;
    • Müller, Thomas;
    • Schöls, Ludger;
    • Klein, Christine;
    • Berg, Daniela;
    • Meyer, Philipp T.;
    • Schulz, Jörg B.;
    • Wollnik, Bernd;
    • Tong, Liang;
    • Krüger, Rejko;
    • Riess, Olaf
    Publication type:
    Article
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    Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism.

    Published in:
    JAMA Neurology, 2019, v. 72, n. 6, p. 211, doi. 10.1001/jamaneurol.2018.3777
    By:
    • Brüggemann, Norbert;
    • Domingo, Aloysius;
    • Rasche, Dirk;
    • Moll, Christian K. E.;
    • Rosales, Raymond L.;
    • Jamora, Roland Dominic G.;
    • Hanssen, Henrike;
    • Münchau, Alexander;
    • Graf, Julia;
    • Weissbach, Anne;
    • Tadic, Vera;
    • Diesta, Cid C.;
    • Volkmann, Jens;
    • Kühn, Andrea;
    • Münte, Thomas F.;
    • Tronnier, Volker;
    • Klein, Christine
    Publication type:
    Article
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    Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.

    Published in:
    JAMA Neurology, 2017, v. 74, n. 7, p. 806, doi. 10.1001/jamaneurol.2017.0666
    By:
    • Lohmann, Katja;
    • Redin, Claire;
    • Tönnies, Holger;
    • Bressman, Susan B.;
    • Subero, Jose Ignacio Martin;
    • Wiegers, Karin;
    • Hinrichs, Frauke;
    • Hellenbroich, Yorck;
    • Rakovic, Aleksandar;
    • Raymond, Deborah;
    • Ozelius, Laurie J.;
    • Schwinger, Eberhard;
    • Siebert, Reiner;
    • Talkowski, Michael E.;
    • Saunders-Pullman, Rachel;
    • Klein, Christine
    Publication type:
    Article
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    A Novel OPA3 Mutation Revealed by Exome Sequencing.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 6, p. 783, doi. 10.1001/jamaneurol.2013.1174
    By:
    • Arif, Beenish;
    • Kumar, Kishore R.;
    • Seibler, Philip;
    • Vulinovic, Franca;
    • Fatima, Amara;
    • Winkler, Susen;
    • Nürnberg, Gudrun;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Jamil, Ahmad Zeeshan;
    • Brüggemann, Anne;
    • Abbas, Ghazanfar;
    • Klein, Christine;
    • Naz, Sadaf;
    • Lohmann, Katja
    Publication type:
    Article
    27

    Glucocerebrosidase Mutations.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 6, p. 686, doi. 10.1001/jamaneurol.2013.87
    By:
    • Klein, Christine;
    • Krainc, Dimitri
    Publication type:
    Article
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    Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 126, doi. 10.3390/genes13010126
    By:
    • Lüth, Theresa;
    • Laβ, Joshua;
    • Schaake, Susen;
    • Wohlers, Inken;
    • Pozojevic, Jelena;
    • Jamora, Roland Dominic G.;
    • Rosales, Raymond L.;
    • Brüggemann, Norbert;
    • Saranza, Gerard;
    • Diesta, Cid Czarina E.;
    • Schlüter, Kathleen;
    • Tse, Ronnie;
    • Reyes, Charles Jourdan;
    • Brand, Max;
    • Busch, Hauke;
    • Klein, Christine;
    • Westenberger, Ana;
    • Trinh, Joanne
    Publication type:
    Article
    33

    Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease.

    Published in:
    Genes, 2021, v. 12, n. 12, p. 1859, doi. 10.3390/genes12121859
    By:
    • Koch, Sebastian;
    • Laabs, Björn-Hergen;
    • Kasten, Meike;
    • Vollstedt, Eva-Juliane;
    • Becktepe, Jos;
    • Brüggemann, Norbert;
    • Franke, Andre;
    • Krämer, Ulrike M.;
    • Kuhlenbäumer, Gregor;
    • Lieb, Wolfgang;
    • Mollenhauer, Brit;
    • Neis, Miriam;
    • Trenkwalder, Claudia;
    • Schäffer, Eva;
    • Usnich, Tatiana;
    • Wittig, Michael;
    • Klein, Christine;
    • König, Inke R.;
    • Lohmann, Katja;
    • Krawczak, Michael
    Publication type:
    Article
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    PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1086, doi. 10.1038/sj.ejhg.5201455
    By:
    • Klein, Christine;
    • Djarmati, Ana;
    • Hedrich, Katja;
    • Schäfer, Nora;
    • Scaglione, Cesa;
    • Marchese, Roberta;
    • Kock, Norman;
    • Schüle, Birgitt;
    • Hiller, Anja;
    • Lohnau, Thora;
    • Winkler, Susen;
    • Wiegers, Karin;
    • Hering, Robert;
    • Bauer, Peter;
    • Riess, Olaf;
    • Abbruzzese, Giovanni;
    • Martinelli, Paolo;
    • Pramstaller, Peter P.
    Publication type:
    Article
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    Morbus Parkinson.

    Published in:
    Medizinische Genetik, 2018, v. 30, n. 2, p. 267, doi. 10.1007/s11825-018-0197-z
    By:
    • Borsche, Max;
    • Klein, Christine
    Publication type:
    Article
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    Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.

    Published in:
    Journal of Neural Transmission, 2022, v. 129, n. 1, p. 37, doi. 10.1007/s00702-021-02421-0
    By:
    • Lim, Jia Lun;
    • Lohmann, Katja;
    • Tan, Ai Huey;
    • Tay, Yi Wen;
    • Ibrahim, Khairul Azmi;
    • Abdul Aziz, Zariah;
    • Mawardi, Ahmad Shahir;
    • Puvanarajah, Santhi Datuk;
    • Lim, Thien Thien;
    • Looi, Irene;
    • Ooi, Joshua Chin Ern;
    • Chia, Yuen Kang;
    • Muthusamy, Kalai Arasu;
    • Bauer, Peter;
    • Rolfs, Arndt;
    • Klein, Christine;
    • Ahmad-Annuar, Azlina;
    • Lim, Shen-Yang
    Publication type:
    Article
    42

    Neurocognitive profile of patients with X-linked dystonia-parkinsonism.

    Published in:
    Journal of Neural Transmission, 2021, v. 128, n. 5, p. 671, doi. 10.1007/s00702-021-02317-z
    By:
    • Jamora, Roland Dominic G.;
    • Suratos, Cezar Thomas R.;
    • Bautista, Jesi Ellen C.;
    • Ramiro, Gail Melissa I.;
    • Westenberger, Ana;
    • Klein, Christine;
    • Ledesma, Lourdes K.
    Publication type:
    Article
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    Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 797, doi. 10.1038/ng.2325
    By:
    • Wortmann, Saskia B;
    • Vaz, Frédéric M;
    • Gardeitchik, Thatjana;
    • Vissers, Lisenka E L M;
    • Renkema, G Herma;
    • Schuurs-Hoeijmakers, Janneke H M;
    • Kulik, Wim;
    • Lammens, Martin;
    • Christin, Christin;
    • Kluijtmans, Leo A J;
    • Rodenburg, Richard J;
    • Nijtmans, Leo G J;
    • Grünewald, Anne;
    • Klein, Christine;
    • Gerhold, Joachim M;
    • Kozicz, Tamas;
    • van Hasselt, Peter M;
    • Harakalova, Magdalena;
    • Kloosterman, Wigard;
    • Bari?, Ivo
    Publication type:
    Article
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    Genome-wide association study reveals genetic risk underlying Parkinson's disease.

    Published in:
    Nature Genetics, 2009, v. 41, n. 12, p. 1308, doi. 10.1038/ng.487
    By:
    • Simón-Sánchez, Javier;
    • Schulte, Claudia;
    • Bras, Jose M.;
    • Sharma, Manu;
    • Gibbs, J. Raphael;
    • Berg, Daniela;
    • Paisan-Ruiz, Coro;
    • Lichtner, Peter;
    • Scholz, Sonja W.;
    • Hernandez, Dena G.;
    • Krüger, Rejko;
    • Federoff, Monica;
    • Klein, Christine;
    • Goate, Alison;
    • Perlmutter, Joel;
    • Bonin, Michael;
    • Nalls, Michael A.;
    • Illig, Thomas;
    • Gieger, Christian;
    • Houlden, Henry
    Publication type:
    Article
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    Parkin gene alterations in hepatocellular carcinoma.

    Published in:
    Genes, Chromosomes & Cancer, 2004, v. 40, n. 2, p. 85, doi. 10.1002/gcc.20020
    By:
    • Fang Wang;
    • Stacy Denison;
    • Jin-Ping Lai;
    • Leslie A. Philips;
    • Damien Montoya;
    • Norman Kock;
    • Birgitt Schüle;
    • Christine Klein;
    • Viji Shridhar;
    • Lewis R. Roberts;
    • David I. Smith
    Publication type:
    Article
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    A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.

    Published in:
    2018
    By:
    • Salpietro, Vincenzo;
    • Perez‐Dueñas, Belen;
    • Nakashima, Kosuke;
    • San Antonio‐Arce, Victoria;
    • Manole, Andreea;
    • Efthymiou, Stephanie;
    • Vandrovcova, Jana;
    • Bettencourt, Conceicao;
    • Mencacci, Niccolò E.;
    • Klein, Christine;
    • Kelly, Michy P.;
    • Davies, Ceri H.;
    • Kimura, Haruhide;
    • Macaya, Alfons;
    • Houlden, Henry;
    • Perez-Dueñas, Belen;
    • San Antonio-Arce, Victoria
    Publication type:
    journal article