Publikationen

2018

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
M. Blankenburg, J. Junker, G. Hirschfeld, E. Michel, F. Aksu, J. Wager, and B. Zernikow,
Quantitative sensory testing profiles in children, adolescents and young adults (6-20 years) with cerebral palsy: Hints for a neuropathic genesis of pain syndromes, Eur J Paediatr Neurol , vol. 22, no. 3, pp. 470–481, 2018.
DOI:10.1016/j.ejpn.2017.12.015
J. Tübing, J. Bohnenpoll, J. Spiegler, G. Gillessen-Kaesbach, Tobias Bäumer, C. Max, J. Sperner, C. Klein, and Alexander Münchau,
Methylphenidate Can Improve Chorea in NKX2.1 and ADCY5 Mutation-positive Patients-A Report of Two Children, Mov Disord Clin Pract , vol. 5, no. 3, pp. 343–345, 2018.
DOI:10.1002/mdc3.12608
Alexander Balck, Sinem Tunc, Johanna Schmitz, Ronja Hollstein, Frank J. Kaiser, and Norbert Brüggemann,
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2, Cerebellum , vol. 17, no. 4, pp. 504–506, 2018.
DOI:10.1007/s12311-018-0931-8
Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, [GROUP] Tourette International Collaborative Genetics Study (TIC Genetics), [GROUP] Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), [GROUP] Tourette Association of America International Consortium for Genetics (TAAICG), Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, and Matthew W. State,
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis, Cell Rep , vol. 24, no. 13, pp. 3441-3454.e12, 2018.
DOI:10.1016/j.celrep.2018.08.082
N. H. Jung, Alexander Münchau, and V. Mall,
[Neuronal plasticity and neuromodulation in pediatric neurology], Nervenarzt , vol. 89, no. 10, pp. 1131–1139, 2018.
DOI:10.1007/s00115-018-0586-1
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

2017

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.
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
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
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
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
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
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
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
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
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
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
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
Alexander Münchau,
Faust hatte ADHS, Frankfurter Allgemeine Sonntagszeitung , 2017.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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

2016

Mohamed Abdulkadir, Jay A. Tischfield, Robert A. King, Thomas V. Fernandez, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Sebastian F. T. M. de Bruijn, Lonneke Elzerman, Blanca Garcia-Delgar, Donald L. Gilbert, Dorothy E. Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Andreas Lamerz, Bennett Leventhal, Andrea G. Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Marieke D. Messchendorp, Pablo Mir, Astrid Morer, Alexander Münchau, Tara L. Murphy, Thaïra J. C. Openneer, Kerstin J. Plessen, Judith J. G. Rath, Veit Roessner, Odette Fründt, Eun-Young Shin, Deborah A. Sival, Dong-Ho Song, Jungeun Song, Anne-Marie Stolte, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H. Zinner, Matthew W. State, Gary A. Heiman, Pieter J. Hoekstra, and Andrea Dietrich,
Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder, J Psychiatr Res , vol. 82, pp. 126–135, 2016.
DOI:10.1016/j.jpsychires.2016.07.017
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.
Christian Beste, Jennifer Tübing, Helen Seeliger, Tobias Bäumer, Valerie Brandt, Ann-Kathrin Stock, and Alexander Münchau,
Altered perceptual binding in Gilles de la Tourette syndrome, Cortex , vol. 83, pp. 160–166, 2016.
DOI:10.1016/j.cortex.2016.07.015
Valerie Cathérine Brandt, Christian Beck, Valeria Sajin, Silke Anders, and Alexander Münchau,
Convergent Validity of the PUTS, Front Psychiatry , vol. 7, pp. 51, 2016.
DOI:10.3389/fpsyt.2016.00051
Valerie Cathérine Brandt, and Alexander Münchau,
Evidence of Different Neural Pathways for Motor and Vocal Tic-like Expressions in Monkeys, Mov Disord , vol. 31, no. 7, pp. 971, 2016.
DOI:10.1002/mds.26640
Valerie Cathérine Brandt, Praveetha Patalay, Tobias Bäumer, Marcel Brass, and Alexander Münchau,
Tics as a model of over-learned behavior-imitation and inhibition of facial tics, Mov Disord , vol. 31, no. 8, pp. 1155–1162, 2016.
DOI:10.1002/mds.26607