Publikationen

2018

Martje G. Pauly, Victor Krajka, Felix Stengel, Philip Seibler, Christine Klein, and Philipp Capetian,
Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells, Front Cell Dev Biol , vol. 6, pp. 3, 2018.
DOI:10.3389/fcell.2018.00003
L. Schöls, H. Graessner, and Alexander Münchau,
Deutsche Akademie für Seltene Neurologische Erkrankungen, Nervenheilkunde , vol. 37, no. 03, pp. 136–141, 2018.
DOI:10.1055/s-0038-1642087
Hauke Baumann, Magdalena Jahn, Alexander Münchau, Michaela Trilck-Winkler, Katja Lohmann, and Philip Seibler,
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers, Stem Cell Res , vol. 33, pp. 60–64, 2018.
DOI:10.1016/j.scr.2018.09.018
Anne Weissbach, and Katja Lohmann,
Genetische Ursachen bei Dystonien, Aktuel Neurol , vol. 45, no. 10, pp. 726–736, 2018.
DOI:10.1055/a-0740-3212
Joanne Trinh, Vera Tadic, and Christine Klein,
How Do I Confirm that a New Mutation is Pathogenic?, Mov Disord Clin Pract , vol. 5, no. 2, pp. 229, 2018.
DOI:10.1002/mdc3.12600
Mohamed Abdulkadir, Douglas Londono, Derek Gordon, Thomas V. Fernandez, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Lonneke Elzerman, Carolin Fremer, Odette Fründt, Blanca Garcia-Delgar, Donald L. Gilbert, Dorothy E. Grice, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Ewgeni Jakubovski, Young Key Kim, Young Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett Leventhal, Andrea G. Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Kirsten Müller-Vahl, Alexander Münchau, Tara L. Murphy, Kerstin J. Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H. Zinner, Robert A. King, Jay A. Tischfield, Gary A. Heiman, Pieter J. Hoekstra, and Andrea Dietrich,
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach, Eur Arch Psychiatry Clin Neurosci , vol. 268, no. 3, pp. 301–316, 2018.
DOI:10.1007/s00406-017-0808-8
Philip Seibler, Lena F. Burbulla, Marija Dulovic, Simone Zittel, Johanne Heine, Thomas Schmidt, Franziska Rudolph, Ana Westenberger, Aleksandar Raković, Alexander Münchau, Dimitri Krainc, and Christine Klein,
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells, Brain , vol. 141, no. 10, pp. 3052–3064, 2018.
DOI:10.1093/brain/awy230

2017

J. Prasuhn, L. Piskol, E.-J. Vollstedt, J. Graf, A. Schmidt, Vera Tadic, Sinem Tunc, J. Hampf, E. Warrlich, C. Bibergeil, J. Hagenah, C. Klein, M. Kasten, and N. Brüggemann,
Non-motor symptoms and quality of life in subjects with mild parkinsonian signs, Acta Neurol Scand , vol. 136, no. 5, pp. 495–500, 2017.
DOI:10.1111/ane.12760
Eva Hebert, Friederike Borngräber, Alexander Schmidt, Aleksandar Raković, Ingrid Brænne, Anne Weissbach, Jennie Hampf, Eva-Juliane Vollstedt, Leopold Größer, Susen Schaake, Michaela Müller, Humera Manzoor, Hans-Christian Jabusch, Daniel Alvarez-Fischer, Meike Kasten, Vladimir S. Kostić, Thomas Gasser, Kirsten E. Zeuner, Han-Joon Kim, Beomseok Jeon, Peter Bauer, Eckart Altenmüller, Christine Klein, and Katja Lohmann,
Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias, Genes , vol. 8, no. 10, pp. 276, 2017.
DOI:10.3390/genes8100276
Christine Klein, Katja Lohmann, Connie Marras, and Alexander Münchau,
Hereditary Dystonia Overview, in GeneReviews , Adam, Margaret P. and Ardinger, Holly H. and Pagon, Roberta A. and Wallace, Stephanie E. and Bean, Lora JH and Mefford, Heather C. and Stephens, Karen and Amemiya, Anne and Ledbetter, Nikki, Eds. University of Washington, Seattle, 2017.
Davina J. Hensman Moss, Antonio F. Pardiñas, Douglas Langbehn, Kitty Lo, Blair R. Leavitt, Raymund Roos, Alexandra Dürr, Simon Mead, [GROUP] TRACK-HD investigators, [GROUP] REGISTRY investigators, Peter Holmans, Lesley Jones, and Sarah J. Tabrizi,
Identification of genetic variants associated with Huntington’s disease progression: a genome-wide association study, Lancet Neurol , vol. 16, no. 9, pp. 701–711, 2017.
DOI:10.1016/S1474-4422(17)30161-8
Rebecca Herzog, Adib Zendedel, Leoni Lammerding, Cordian Beyer, and Alexander Slowik,
Impact of 17beta-estradiol and progesterone on inflammatory and apoptotic microRNA expression after ischemia in a rat model, J Steroid Biochem Mol Biol , vol. 167, pp. 126–134, 2017.
DOI:10.1016/j.jsbmb.2016.11.018
Anne Weissbach, Inke R. König, Katja Hückelheim, Peter P. Pramstaller, Elisa Werner, Norbert Brüggemann, Vera Tadic, Katja Lohmann, Tobias Bäumer, Alexander Münchau, Meike Kasten, and Christine Klein,
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers, Parkinsonism Relat Disord , vol. 42, pp. 95–99, 2017.
DOI:10.1016/j.parkreldis.2017.07.003
A. Schramm, D. Huber, C. Möbius, Alexander Münchau, Z. Kohl, and Tobias Bäumer,
Involvement of obliquus capitis inferior muscle in dystonic head tremor, Parkinsonism Relat Disord , vol. 44, pp. 119–123, 2017.
DOI:10.1016/j.parkreldis.2017.07.034
Simone Zittel, Katja Lohmann, Peter Bauer, Christine Klein, and Alexander Münchau,
Munchausen syndrome by genetics: Next-generation challenges for clinicians, Neurology , vol. 88, no. 10, pp. 1000–1001, 2017.
DOI:10.1212/WNL.0000000000003695
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein, and Alexander Münchau,
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism, Mov Disord , vol. 32, no. 4, pp. 576–584, 2017.
DOI:10.1002/mds.26895
Katja Lohmann, Ikuo Masuho, Dipak N. Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K. Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, and Kirill A. Martemyanov,
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans, Hum Mol Genet , vol. 26, no. 6, pp. 1078–1086, 2017.
DOI:10.1093/hmg/ddx018
Valerie C. Brandt, Katja Herrmann, Julia Kerner Auch Koerner, and Alexander Münchau,
Perceived and real tic suppression ability and its relation to impulsivity, Mov Disord , vol. 32, no. 12, pp. 1795–1796, 2017.
DOI:10.1002/mds.27202
Brian D. Berman, Johanna Junker, Erika Shelton, Stefan H. Sillau, H. A. Jinnah, Joel S. Perlmutter, Alberto J. Espay, Joseph Jankovic, Marie Vidailhet, Cecilia Bonnet, William Ondo, Irene A. Malaty, Ramón Rodríguez, William M. McDonald, Laura Marsh, Mateusz Zurowski, Tobias Bäumer, and Norbert Brüggemann,
Psychiatric associations of adult-onset focal dystonia phenotypes, J Neurol Neurosurg Psychiatry , vol. 88, no. 7, pp. 595–602, 2017.
DOI:10.1136/jnnp-2016-315461
Odette Fründt, Wiebke Grashorn, Daniel Schöttle, Ina Peiker, Nicole David, Andreas K. Engel, Katarina Forkmann, Nathalie Wrobel, Alexander Münchau, and Ulrike Bingel,
Quantitative Sensory Testing in adults with Autism Spectrum Disorders, J Autism Dev Disord , vol. 47, no. 4, pp. 1183–1192, 2017.
DOI:10.1007/s10803-017-3041-4
Elisabeth Wenger, Simone Kühn, Julius Verrel, Johan Mårtensson, Nils Christian Bodammer, Ulman Lindenberger, and Martin Lövdén,
Repeated Structural Imaging Reveals Nonlinear Progression of Experience-Dependent Volume Changes in Human Motor Cortex, Cereb Cortex , vol. 27, no. 5, pp. 2911–2925, 2017.
DOI:10.1093/cercor/bhw141
N. Brüggemann, R. L. Rosales, J. L. Waugh, A. J. Blood, A. Domingo, M. Heldmann, R. D. Jamora, Alexander Münchau, T. F. Münte, L. V. Lee, I. Buchmann, and C. Klein,
Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression, Eur J Neurol , vol. 24, no. 5, pp. 680–686, 2017.
DOI:10.1111/ene.13256
Davide Martino, Tamara M. Pringsheim, Andrea E. Cavanna, Carlo Colosimo, Andreas Hartmann, James F. Leckman, Sheng Luo, Alexander Münchau, Christopher G. Goetz, Glenn T. Stebbins, Pablo Martinez-Martin, and [GROUP] Members of the MDS Committee on Rating Scales Development,
Systematic review of severity scales and screening instruments for tics: Critique and recommendations, Mov Disord , vol. 32, no. 3, pp. 467–473, 2017.
DOI:10.1002/mds.26891
Karen Grütz, Philip Seibler, Anne Weissbach, Katja Lohmann, Francesca A. Carlisle, Derek J. Blake, Ana Westenberger, Christine Klein, and Anne Grünewald,
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia, Sci Rep , vol. 7, pp. 41156, 2017.
DOI:10.1038/srep41156
Alexander Münchau,
Faust hatte ADHS, Frankfurter Allgemeine Sonntagszeitung , 2017.
Tobias Bäumer, A. Grimm, and T. Schelle,
[Diagnostic nerve ultrasonography], Radiologe , vol. 57, no. 3, pp. 157–165, 2017.
DOI:10.1007/s00117-017-0218-y
Sinem Tunc, Norbert Brüggemann, Magdalena K. Baaske, Corinna Hartmann, Karen Grütz, Ana Westenberger, Christine Klein, Alexander Münchau, and Tobias Bäumer,
Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study, Parkinsonism Relat Disord , vol. 40, pp. 73–75, 2017.
DOI:10.1016/j.parkreldis.2017.04.013
Simone Zittel, Daniel Alvarez-Fischer, Ulrich Schweiger, Christine Klein, and Alexander Münchau,
Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians, Neurology , vol. 89, no. 3, pp. 307, 2017.
DOI:10.1212/WNL.0000000000004133
Valerie C. Brandt, Ann-Kathrin Stock, Alexander Münchau, and Christian Beste,
Evidence for enhanced multi-component behaviour in Tourette syndrome - an EEG study, Sci Rep , vol. 7, no. 1, pp. 7722, 2017.
DOI:10.1038/s41598-017-08158-9
Christiane Stieber, Martin Mücke, Isabelle C. Windheuser, Lorenz Grigull, Frank Klawonn, Sinem Tunc, Alexander Münchau, and Thomas Klockgether,
[On the fast track to diagnosis : Recommendations for patients without a diagnosis], Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz , vol. 60, no. 5, pp. 517–522, 2017.
DOI:10.1007/s00103-017-2535-8
Lara M. Lange, Sinem Tunc, Stephanie Tennstedt, Alexander Münchau, Christine Klein, Birgit Assmann, and Katja Lohmann,
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia, Mov Disord , vol. 32, no. 10, pp. 1495–1497, 2017.
DOI:10.1002/mds.27137
Alexander Balck, Henrike Hanssen, Yorck Hellenbroich, Katja Lohmann, and Alexander Münchau,
Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A, J Neurol , vol. 264, no. 7, pp. 1520–1522, 2017.
DOI:10.1007/s00415-017-8494-z
Anne Weissbach, Elisa Werner, Julien F. Bally, Sinem Tunc, Sebastian Löns, Dagmar Timmann, Kirsten E. Zeuner, Vera Tadic, Norbert Brüggemann, Anthony Lang, Christine Klein, Alexander Münchau, and Tobias Bäumer,
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation, Ann Neurol , vol. 82, no. 4, pp. 543–553, 2017.
DOI:10.1002/ana.25035
Ana Westenberger, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A. Kühn, Juliane Spiegler, Anthony E. Lang, Jürgen Sperner, Victor S. C. Fung, Jens Schallner, Gabriele Gillessen-Kaesbach, Alexander Münchau, and Christine Klein,
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases, J Pediatr , vol. 181, pp. 306-308.e1, 2017.
DOI:10.1016/j.jpeds.2016.10.079
Susanne Steinlechner, Johann Hagenah, Hans-Jürgen Rumpf, Christian Meyer, Ulrich John, Tobias Bäumer, Norbert Brüggemann, Meike Kasten, Alexander Münchau, Christine Klein, and Rebekka Lencer,
Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson’s disease, J Neurol , vol. 264, no. 6, pp. 1076–1084, 2017.
DOI:10.1007/s00415-017-8488-x
Anne Weissbach, Tobias Bäumer, Peter P. Pramstaller, Norbert Brüggemann, Vera Tadic, Robert Chen, Christine Klein, and Alexander Münchau,
Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers, Clin Neurophysiol , vol. 128, no. 1, pp. 275–280, 2017.
DOI:10.1016/j.clinph.2016.10.007
Sinem Tunc, and Alexander Münchau,
Boys in a famous choir: Singing and ticcing, Ann Neurol , vol. 82, no. 6, pp. 1029–1031, 2017.
DOI:10.1002/ana.25112
Tobias Bäumer, Valeria Sajin, and Alexander Münchau,
Childhood-Onset Movement Disorders: A Clinical Series of 606 Cases, Mov Disord Clin Pract , vol. 4, no. 3, pp. 437–440, 2017.
DOI:10.1002/mdc3.12399
A. Jeremy Willsey, Thomas V. Fernandez, Dongmei Yu, Robert A. King, Andrea Dietrich, Jinchuan Xing, Stephan J. Sanders, Jeffrey D. Mandell, Alden Y. Huang, Petra Richer, Louw Smith, Shan Dong, Kaitlin E. Samocha, [GROUP] Tourette International Collaborative Genetics (TIC Genetics), [GROUP] Tourette Syndrome Association International Consortium for Genetics (TSAICG), Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jay A. Tischfield, Jeremiah M. Scharf, Matthew W. State, and Gary A. Heiman,
De Novo Coding Variants Are Strongly Associated with Tourette Disorder, Neuron , vol. 94, no. 3, pp. 486-499.e9, 2017.
DOI:10.1016/j.neuron.2017.04.024
Caroline Seer, Florian Lange, Sebastian Löns, Florian Wegner, Christoph Schrader, Dirk Dressler, Reinhard Dengler, and Bruno Kopp,
Dopaminergic modulation of performance monitoring in Parkinson’s disease: An event-related potential study, Sci Rep , vol. 7, pp. 41222, 2017.
DOI:10.1038/srep41222
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein, and Alexander Münchau,
Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding, Brain Struct Funct , vol. 222, no. 8, pp. 3807–3817, 2017.
DOI:10.1007/s00429-017-1435-x
Sebastian Löns, Elena Chorbadzhieva, Alexandra Kleimann, Dirk Dressler, and Christoph Schrader,
Effects of levodopa/carbidopa intestinal gel versus oral levodopa/carbidopa on B vitamin levels and neuropathy, Brain Behav , vol. 7, no. 5, pp. e00698, 2017.
DOI:10.1002/brb3.698
Hauke Baumann, Simone Wolff, Alexander Münchau, Johann M. Hagenah, Katja Lohmann, and Christine Klein,
Evaluating the role of TMEM230 variants in Parkinson’s disease, Parkinsonism Relat Disord , vol. 35, pp. 100–101, 2017.
DOI:10.1016/j.parkreldis.2016.12.015
Vera Tadic, Christine Klein, Frauke Hinrichs, Alexander Münchau, Katja Lohmann, and Norbert Brüggemann,
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia, J Neurol , vol. 264, no. 5, pp. 1008–1010, 2017.
DOI:10.1007/s00415-017-8464-5

2016

Philipp Capetian, Luis Azmitia, Martje G. Pauly, Victor Krajka, Felix Stengel, Eva-Maria Bernhardi, Mariana Klett, Britta Meier, Philip Seibler, Nancy Stanslowsky, Andreas Moser, Andreas Knopp, Gabriele Gillessen-Kaesbach, Guido Nikkhah, Florian Wegner, Máté Döbrössy, and Christine Klein,
Plasmid-Based Generation of Induced Neural Stem Cells from Adult Human Fibroblasts, Fron Cell Neurosci , vol. 10, pp. 245, 2016.
DOI:10.3389/fncel.2016.00245
Tobias Bäumer, and K. Zeuner,
Neues zur Botulinum Neurotoxin A Therapie bei Spastik und fokaler Dystonie, Aktuel Neurol , vol. 43, no. 06, pp. 372–379, 2016.
Julius Verrel, Nina Lisofsky, Simone Kühn, and Ulman Lindenberger,
Normal aging increases postural preparation errors: Evidence from a two-choice response task with balance constraints, Gait Posture , vol. 44, pp. 143–148, 2016.
DOI:10.1016/j.gaitpost.2015.12.002
Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, and Alexander Münchau,
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability, Neurol Genet , vol. 2, no. 5, pp. e106, 2016.
DOI:10.1212/NXG.0000000000000106
Florence C. F. Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev S. Pall, Belen Perez-Dueñas, Padraic Grattan-Smith, Robert A. Ouvrier, Neil Mahant, Bernadette C. Hanna, Matthew Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, Dennis Crimmins, Donald Pryor, John G. L. Morris, Alexander Münchau, Detelina Grozeva, Keren J. Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, and Victor S. C. Fung,
Phenotypic insights into ADCY5-associated disease, Mov Disord , vol. 31, no. 7, pp. 1033–1040, 2016.
DOI:10.1002/mds.26598
Katja Lohmann, Felix Schlicht, Marina Svetel, Frauke Hinrichs, Simone Zittel, Julia Graf, Thora Lohnau, Alexander Schmidt, Pablo Mir, Patricia Krause, Antony E. Lang, Hans-Christian Jabusch, Alexander Wolters, Christoph Kamm, Kirsten E. Zeuner, Eckart Altenmüller, Sadaf Naz, Sun Ju Chung, Vladimir S. Kostić, Alexander Münchau, Andrea A. Kühn, Norbert Brüggemann, and Christine Klein,
The role of mutations in COL6A3 in isolated dystonia, J Neurol , vol. 263, no. 4, pp. 730–734, 2016.
DOI:10.1007/s00415-016-8046-y