Universität zu Köln

Journal Article

Dafsari, Hormos Salimi, Sprute, Rosanne ORCID: 0000-0003-2457-6437, Wunderlich, Gilbert, Daimagueler, Huelya-Sevcan, Karaca, Ezgi ORCID: 0000-0002-4926-7991, Contreras, Adriana, Becker, Kerstin, Schulze-Rhonhof, Mira, Kiening, Karl, Karakulak, Tulay ORCID: 0000-0002-4644-2774, Kloss, Manja, Horn, Annette, Pauls, Amande, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Assmann, Birgit, Koy, Anne and Cirak, Sebahattin (2019). Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J. Hum. Genet., 64 (8). S. 803 - 814. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

Danielsson, Annika ORCID: 0000-0002-5626-7068, Carecchio, Miryam ORCID: 0000-0002-0755-5477, Cif, Laura, Koy, Anne, Lin, Jean-Pierre, Solders, Goran, Romito, Luigi ORCID: 0000-0002-6772-1035, Lohmann, Katja, Garavaglia, Barbara, Reale, Chiara ORCID: 0000-0002-7493-758X, Zorzi, Giovanna, Nardocci, Nardo, Coubes, Philippe, Gonzalez, Victoria, Roubertie, Agathe, Collod-Beroud, Gwenaelle, Lind, Goran and Tedroff, Kristina ORCID: 0000-0002-0456-8029 (2019). Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement. J. Clin. Med., 8 (12). BASEL: MDPI. ISSN 2077-0383

Duran, Ibrahim ORCID: 0000-0003-4044-8822, Martakis, Kyriakos ORCID: 0000-0003-3982-0914, Rehberg, Mirko, Stark, Christina ORCID: 0000-0003-4247-0679, Koy, Anne and Schoenau, Eckhard (2019). The Appendicular Lean Mass Index Is a Suitable Surrogate for Muscle Mass in Children with Cerebral Palsy. J. Nutr., 149 (10). S. 1863 - 1869. OXFORD: OXFORD UNIV PRESS. ISSN 1541-6100

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Greuel, Andrea, Pauls, K. Amande M., Koy, Anne, Suedmeyer, Martin, Schnitzler, Alfons ORCID: 0000-0002-6414-7939, Timmermann, Lars, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Eggers, Carsten (2020). Pallidal Deep Brain Stimulation Reduces Sensorimotor Cortex Activation in Focal/Segmental Dystonia. Mov. Disord., 35 (4). S. 629 - 640. HOBOKEN: WILEY. ISSN 1531-8257

Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Koerber, Friederike, Stueve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline ORCID: 0000-0003-1272-0518, Maarouf, Mohammad, Coubes, Philippe and Cif, Laura (2018). Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J. Neurol. Sci., 391. S. 31 - 40. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1878-5883

Koy, Anne, Lin, Jean-Pierre ORCID: 0000-0001-9314-2259, Sanger, Terence D., Marks, Warren A., Mink, Jonathan W. and Timmermann, Lars (2016). Advances in management of movement disorders in children. Lancet Neurol., 15 (7). S. 719 - 736. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

Koy, Anne, Lin, Jean-Pierre ORCID: 0000-0001-9314-2259, Sanger, Terence D., Marks, Warren A., Mink, Jonathan W. and Timmermann, Lars (2016). Management of movement disorders in children Reply. Lancet Neurol., 15 (13). S. 1302 - 1304. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1474-4465

Koy, Anne and Timmermann, Lars (2017). Deep brain stimulation in cerebral palsy: Challenges and opportunities. Eur. J. Paediatr. Neurol., 21 (1). S. 118 - 122. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin (2020). The genomic and clinical landscape of fetal akinesia. Genet. Med., 22 (3). S. 511 - 524. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Sprute, Rosanne ORCID: 0000-0003-2457-6437, Ardicli, Didem, Oguz, Kader Karli, Malenica-Mandel, Anna, Daimagueler, Hulya-Sevcan, Koy, Anne, Coskun, Turgay, Wang, Haicui, Topcu, Meral and Cirak, Sebahattin (2019). Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature. Hum. Genom. Var., 6. LONDON: NATURE PUBLISHING GROUP. ISSN 2054-345X