Works matching AU Christoph Kamm

Results: 27
    1

    The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.677551
    By:
    • Traschütz, Andreas;
    • Reich, Selina;
    • Adarmes, Astrid D.;
    • Anheim, Mathieu;
    • Ashrafi, Mahmoud Reza;
    • Baets, Jonathan;
    • Basak, A. Nazli;
    • Bertini, Enrico;
    • Brais, Bernard;
    • Gagnon, Cynthia;
    • Gburek-Augustat, Janina;
    • Hanagasi, Hasmet A.;
    • Heinzmann, Anna;
    • Horvath, Rita;
    • de Jonghe, Peter;
    • Kamm, Christoph;
    • Klivenyi, Peter;
    • Klopstock, Thomas;
    • Minnerop, Martina;
    • Münchau, Alexander
    Publication type:
    Article
    2

    Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.

    Published in:
    Movement Disorders, 2023, v. 38, n. 6, p. 1109, doi. 10.1002/mds.29397
    By:
    • Traschütz, Andreas;
    • Adarmes‐Gomez, Astrid D.;
    • Anheim, Mathieu;
    • Baets, Jonathan;
    • Falkenburger, Björn H.;
    • Gburek‐Augustat, Janina;
    • Doss, Sarah;
    • Kamm, Christoph;
    • Klivenyi, Peter;
    • Grobe‐Einsler, Marcus;
    • Klopstock, Thomas;
    • Minnerop, Martina;
    • Münchau, Alexander;
    • Pane, Chiara;
    • Renaud, Mathilde;
    • Santorelli, Filippo M.;
    • Schöls, Ludger;
    • Timmann, Dagmar;
    • Vielhaber, Stefan;
    • Haack, Tobias B.
    Publication type:
    Article
    3

    Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type.

    Published in:
    2020
    By:
    • Faber, Jennifer;
    • Giordano, Ilaria;
    • Jiang, Xueyan;
    • Kindler, Christine;
    • Spottke, Annika;
    • Acosta‐Cabronero, Julio;
    • Nestor, Peter J.;
    • Machts, Judith;
    • Düzel, Emrah;
    • Vielhaber, Stefan;
    • Speck, Oliver;
    • Dudesek, Ales;
    • Kamm, Christoph;
    • Scheef, Lukas;
    • Klockgether, Thomas;
    • Acosta-Cabronero, Julio
    Publication type:
    journal article
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    No evidence for THAP1/ DYT6 variants as disease modifiers in DYT1 dystonia.

    Published in:
    Movement Disorders, 2011, v. 26, n. 11, p. 2136, doi. 10.1002/mds.23777
    By:
    • Kamm, Christoph;
    • Uflacker, Nils;
    • Asmus, Friedrich;
    • Schrader, Christoph;
    • Wolters, Alexander;
    • Wittstock, Matthias;
    • Pahnke, Jens;
    • Gasser, Thomas;
    • Volkmann, Jens;
    • Münchau, Alexander;
    • Hagenah, Johann;
    • Benecke, Reiner;
    • Klein, Christine;
    • Lohmann, Katja
    Publication type:
    Article
    7

    Minocycline 1-year therapy in multiple-system-atrophy: Effect on clinical symptoms and [<sup>11</sup>C] (R)-PK11195 PET (MEMSA-trial).

    Published in:
    Movement Disorders, 2010, v. 25, n. 1, p. 97, doi. 10.1002/mds.22732
    By:
    • Dodel, Richard;
    • Spottke, Annika;
    • Gerhard, Alexander;
    • Reuss, Alexander;
    • Reinecker, Sylvia;
    • Schimke, Nicole;
    • Trenkwalder, Claudia;
    • Sixel-Döring, Friederike;
    • Herting, Birgit;
    • Kamm, Christoph;
    • Gasser, Thomas;
    • Sawires, Martin;
    • Geser, Felix;
    • Köllensperger, Martin;
    • Seppi, Klaus;
    • Kloss, Manja;
    • Krause, Martin;
    • Daniels, Christine;
    • Deuschl, Günther;
    • Böttger, Silke
    Publication type:
    Article
    8
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    UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.

    Published in:
    2005
    By:
    • Healy, Daniel G.;
    • Abou-Sleiman, Patrick M.;
    • Quinn, Niall;
    • Ahmadi, Kourosh R.;
    • Ozawa, Tetsutaro;
    • Kamm, Christoph;
    • Wullner, Ullrich;
    • Oertel, Wolfgang H.;
    • Burk, Katrin;
    • Dupont, Erik;
    • Pellecchia, Maria T.;
    • Tolosa, Eduardo;
    • Gasser, Thomas;
    • Holton, Janice L.;
    • Revesz, Tamas;
    • Goldstein, David B.;
    • Lees, Andrew J.;
    • Wood, Nicholas W.;
    • European MSA Study Group
    Publication type:
    journal article
    11

    Identification and functional analysis of novel THAP1 mutations.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 2, p. 171, doi. 10.1038/ejhg.2011.159
    By:
    • Lohmann, Katja;
    • Uflacker, Nils;
    • Erogullari, Alev;
    • Lohnau, Thora;
    • Winkler, Susen;
    • Dendorfer, Andreas;
    • Schneider, Susanne A;
    • Osmanovic, Alma;
    • Svetel, Marina;
    • Ferbert, Andreas;
    • Zittel, Simone;
    • Kühn, Andrea A;
    • Schmidt, Alexander;
    • Altenmüller, Eckart;
    • Münchau, Alexander;
    • Kamm, Christoph;
    • Wittstock, Matthias;
    • Kupsch, Andreas;
    • Moro, Elena;
    • Volkmann, Jens
    Publication type:
    Article
    12

    GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

    Published in:
    2008
    By:
    • Weber, Yvonne G.;
    • Storch, Alexander;
    • Wuttke, Thomas V.;
    • Brockmann, Knut;
    • Kempfle, Judith;
    • Maljevic, Snezana;
    • Margari, Lucia;
    • Kamm, Christoph;
    • Schneider, Susanne A.;
    • Huber, Stephan M.;
    • Pekrun, Arnulf;
    • Roebling, Robert;
    • Seebohm, Guiscard;
    • Koka, Saisudha;
    • Lang, Camelia;
    • Kraft, Eduard;
    • Blazevic, Dragica;
    • Salvo-Vargas, Alberto;
    • Fauler, Michael;
    • Mottaghy, Felix M.
    Publication type:
    journal article
    13

    The role of mutations in COL6A3 in isolated dystonia.

    Published in:
    Journal of Neurology, 2016, v. 263, n. 4, p. 730, doi. 10.1007/s00415-016-8046-y
    By:
    • Lohmann, Katja;
    • Schlicht, Felix;
    • Svetel, Marina;
    • Hinrichs, Frauke;
    • Zittel, Simone;
    • Graf, Julia;
    • Lohnau, Thora;
    • Schmidt, Alexander;
    • Mir, Pablo;
    • Krause, Patricia;
    • Lang, Antony;
    • Jabusch, Hans-Christian;
    • Wolters, Alexander;
    • Kamm, Christoph;
    • Zeuner, Kirsten;
    • Altenmüller, Eckart;
    • Naz, Sadaf;
    • Chung, Sun;
    • Kostic, Vladimir;
    • Münchau, Alexander
    Publication type:
    Article
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    TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress.

    Published in:
    Journal of Neuroscience Research, 2003, v. 72, n. 2, p. 158, doi. 10.1002/jnr.10567
    By:
    • Jeffrey Hewett;
    • Philipp Ziefer;
    • Daniele Bergeron;
    • Teri Naismith;
    • Heather Boston;
    • Damien Slater;
    • Jeremy Wilbur;
    • Deborah Schuback;
    • Christoph Kamm;
    • Nicole Smith;
    • Sara Camp;
    • Laurie J. Ozelius;
    • Vijaya Ramesh;
    • Phyllis I. Hanson;
    • Xandra O. Breakefield
    Publication type:
    Article
    19
    20

    Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.

    Published in:
    Annals of Neurology, 2023, v. 94, n. 3, p. 470, doi. 10.1002/ana.26712
    By:
    • Traschütz, Andreas;
    • Adarmes‐Gómez, Astrid D.;
    • Anheim, Mathieu;
    • Baets, Jonathan;
    • Brais, Bernard;
    • Gagnon, Cynthia;
    • Gburek‐Augustat, Janina;
    • Doss, Sarah;
    • Hanağası, Haşmet A.;
    • Kamm, Christoph;
    • Klivenyi, Peter;
    • Klockgether, Thomas;
    • Klopstock, Thomas;
    • Minnerop, Martina;
    • Münchau, Alexander;
    • Renaud, Mathilde;
    • Santorelli, Filippo M.;
    • Schöls, Ludger;
    • Thieme, Andreas;
    • Vielhaber, Stefan
    Publication type:
    Article
    21

    Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.

    Published in:
    2016
    By:
    • Schüle, Rebecca;
    • Wiethoff, Sarah;
    • Martus, Peter;
    • Karle, Kathrin N.;
    • Otto, Susanne;
    • Klebe, Stephan;
    • Klimpe, Sven;
    • Gallenmüller, Constanze;
    • Kurzwelly, Delia;
    • Henkel, Dorothea;
    • Rimmele, Florian;
    • Stolze, Henning;
    • Kohl, Zacharias;
    • Kassubek, Jan;
    • Klockgether, Thomas;
    • Vielhaber, Stefan;
    • Kamm, Christoph;
    • Klopstock, Thomas;
    • Bauer, Peter;
    • Züchner, Stephan
    Publication type:
    journal article
    22

    TorsinB – perinuclear location and association with torsinA.

    Published in:
    Journal of Neurochemistry, 2004, v. 89, n. 5, p. 1186, doi. 10.1111/j.1471-4159.2004.02404.x
    By:
    • Hewett, Jeffrey W.;
    • Kamm, Christoph;
    • Boston, Heather;
    • Beauchamp, Roberta;
    • Naismith, Ten;
    • Ozelius, Laurie;
    • Hanson, Phyllis I.;
    • Breakefield, Xandra O.;
    • Ramesh, Vijaya
    Publication type:
    Article
    23

    Validity and reliability of the German multidimensional fatigue inventory in spinal muscular atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 351, doi. 10.1002/acn3.51520
    By:
    • Binz, Camilla;
    • Osmanovic, Alma;
    • Thomas, Nele H.;
    • Stolte, Benjamin;
    • Freigang, Maren;
    • Cordts, Isabell;
    • Griep, Ramona;
    • Uzelac, Zeljko;
    • Wurster, Claudia D.;
    • Kamm, Christoph;
    • Siegler, Hannah A.;
    • Wieselmann, Gary;
    • Hermann, Andreas;
    • Lingor, Paul;
    • Deschauer, Marcus;
    • Ludolph, Albert C.;
    • Meyer, Thomas;
    • Günther, René;
    • Hagenacker, Tim;
    • Petri, Susanne
    Publication type:
    Article
    24

    Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1049, doi. 10.1002/acn3.51340
    By:
    • Freigang, Maren;
    • Wurster, Claudia D.;
    • Hagenacker, Tim;
    • Stolte, Benjamin;
    • Weiler, Markus;
    • Kamm, Christoph;
    • Schreiber‐Katz, Olivia;
    • Osmanovic, Alma;
    • Petri, Susanne;
    • Kowski, Alexander;
    • Meyer, Thomas;
    • Koch, Jan C.;
    • Cordts, Isabell;
    • Deschauer, Marcus;
    • Lingor, Paul;
    • Aust, Elisa;
    • Petzold, Daniel;
    • Ludolph, Albert C.;
    • Falkenburger, Björn;
    • Hermann, Andreas
    Publication type:
    Article
    25

    Validation of a self‐completed Dystonia Non‐Motor Symptoms Questionnaire.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 10, p. 2054, doi. 10.1002/acn3.50900
    By:
    • Klingelhoefer, Lisa;
    • Chaudhuri, Kallol R.;
    • Kamm, Christoph;
    • Martinez‐Martin, Pablo;
    • Bhatia, Kailash;
    • Sauerbier, Anna;
    • Kaiser, Maximilian;
    • Rodriguez‐Blazquez, Carmen;
    • Balint, Bettina;
    • Untucht, Robert;
    • Hall, Lynsey J.;
    • Mildenstein, Lauritz;
    • Wienecke, Miriam;
    • Martino, Davide;
    • Gregor, Olaf;
    • Storch, Alexander;
    • Reichmann, Heinz
    Publication type:
    Article
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