Found: 27

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  • Novel GNAL mutations in two German patients with sporadic dystonia.

    Published in:
    Movement Disorders, 2014, v. 29, n. 14, p. 1833, doi. 10.1002/mds.26066
    By:
    • Ziegan, Julia;
    • Wittstock, Matthias;
    • Westenberger, Ana;
    • Dobričić, Valerija;
    • Wolters, Alexander;
    • Benecke, Reiner;
    • Klein, Christine;
    • Kamm, Christoph
    Publication type:
    Article

  • DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.

    Published in:
    Movement Disorders, 2012, v. 27, n. 14, p. 1820, doi. 10.1002/mds.25219
    By:
    • Winter, Pia;
    • Kamm, Christoph;
    • Biskup, Saskia;
    • Köhler, Angelika;
    • Leube, Barbara;
    • Auburger, Georg;
    • Gasser, Thomas;
    • Benecke, Rainer;
    • Müller, Ulrich
    Publication type:
    Article

  • 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

  • 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

  • New family with paroxysmal exercise-induced dystonia and epilepsy.

    Published in:
    Movement Disorders, 2007, v. 22, n. 6, p. 873, doi. 10.1002/mds.21350
    By:
    • Kamm, Christoph;
    • Mayer, Petra;
    • Sharma, Manu;
    • Niemann, Gerhard;
    • Gasser, Thomas
    Publication type:
    Article

  • Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.

    Published in:
    Movement Disorders, 2006, v. 21, n. 1, p. 98, doi. 10.1002/mds.20673
    By:
    • Peters, Nils;
    • Kamm, Christoph;
    • Asmus, Friedrich;
    • Holinski-Feder, Elke;
    • Kraft, Eduard;
    • Dichgans, Martin;
    • Brüning, Roland;
    • Gasser, Thomas;
    • Bötzel, Kai
    Publication type:
    Article

  • 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

  • The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp.

    Published in:
    Movement Disorders, 2000, v. 15, n. 6, p. 1238, doi. 10.1002/1531-8257(200011)15:6&lt;1238::AID-MDS1027&gt;3.0.CO;2-Z
    By:
    • Kamm, Christoph;
    • Naumann, Markus;
    • Mueller, Joerg;
    • Mai, Norbert;
    • Riedel, Leonhard;
    • Wissel, Joerg;
    • Gasser, Thomas
    Publication type:
    Article

  • GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

    Published in:
    Movement Disorders, 1999, v. 14, n. 4, p. 681, doi. 10.1002/1531-8257(199907)14:4&lt;681::AID-MDS1020&gt;3.0.CO;2-M
    By:
    • Kamm, Christoph;
    • Castelon-Konkiewitz, Elisabete;
    • Naumann, Markus;
    • Heinen, Florian;
    • Brack, Martina;
    • Nebe, Angela;
    • Ceballos-Baumann, Andres;
    • Gasser, Thomas
    Publication type:
    Article

  • Case report: absence-status as late reexacerbation of genetic epilepsy of adolescence.

    Published in:
    Acta Neurologica Belgica, 2016, v. 116, n. 4, p. 675, doi. 10.1007/s13760-016-0603-8
    By:
    • Paschen, Inga;
    • Walter, Uwe;
    • Kamm, Christoph;
    • Rösche, Johannes
    Publication type:
    Article

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy.

    Published in:
    Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01098
    By:
    • Günther, René;
    • Wurster, Claudia Diana;
    • Cordts, Isabell;
    • Koch, Jan Christoph;
    • Kamm, Christoph;
    • Petzold, Daniel;
    • Aust, Elisa;
    • Deschauer, Marcus;
    • Lingor, Paul;
    • Ludolph, Albert Christian;
    • Hermann, Andreas
    Publication type:
    Article

  • 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

  • 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

  • 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

  • Early onset torsion dystonia (Oppenheim's dystonia).

    Published in:
    Orphanet Journal of Rare Diseases, 2006, v. 1, p. 48, doi. 10.1186/1750-1172-1-48
    By:
    • Kamm, Christoph
    Publication type:
    Article

  • 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

  • Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.

    Published in:
    2018
    By:
    • Hanci, Idil;
    • Kamm, Christoph;
    • Scholten, Marlieke;
    • Roncoroni, Lorenzo P.;
    • Weber, Yvonne;
    • Krüger, Rejko;
    • Plewnia, Christian;
    • Gharabaghi, Alireza;
    • Weiss, Daniel
    Publication type:
    Case Study

  • 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

  • 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

  • A functional polymorphism regulating dopamine β‐hydroxylase influences against Parkinson's disease.

    Published in:
    Annals of Neurology, 2004, v. 55, n. 3, p. 443
    By:
    • Daniel G. Healy;
    • Patrick M. Abou‐Sleiman;
    • Tetsutaro Ozawa;
    • Andrew J. Lees;
    • Kailash Bhatia;
    • Kourosh R. Ahmadi;
    • Ullrich Wullner;
    • Jose Berciano;
    • J. Carsten Moller;
    • Christoph Kamm;
    • Katrin Burk;
    • Paolo Barrone;
    • Eduardo Tolosa;
    • Niall Quinn;
    • David B. Goldstein;
    • Nicholas W. Wood
    Publication type:
    Article

  • 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