Universität zu Köln

Journal Article

Bamborschke, Daniel, Kreutzer, Mona, Koy, Anne, Koerber, Friederike, Lucas, Nadja, Huenseler, Christoph, Herkenrath, Peter, Lee-Kirsch, Min Ae and Cirak, Sebahattin (2021). PNPT1 mutations may cause Aicardi-Goutie` res-Syndrome. Brain Dev., 43 (2). S. 320 - 325. AMSTERDAM: ELSEVIER. ISSN 1872-7131

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

Kaczmarek, Alexander Tobias, Bender, Daniel, Gehling, Titus, Kohl, Joshua Benedict, Daimagueler, Hulya-Sevcan, Santamaria-Araujo, Jose Angel, Liebau, Max Christoph, Koy, Anne, Cirak, Sebahattin and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2022). A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency. J. Inherit. Metab. Dis., 45 (2). S. 169 - 183. HOBOKEN: WILEY. ISSN 1573-2665

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, Kuehn, Andrea A., Huebl, Julius, Schneider, Gerd-Helge, van Riesen, Anne K., Eckenweiler, Matthias, Rensing-Zimmermann, Cornelia, Coenen, Volker Arnd, Krauss, Joachim K., Saryyeva, Assel, Hartmann, Hans, Haeussler, Martin, Volkmann, Jens, Matthies, Cordula, Horn, Annette, Schnitzler, Alfons ORCID: 0000-0002-6414-7939, Vesper, Jan, Gharabaghi, Alireza, Weiss, Daniel, Bevot, Andrea, Marks, Warren, Pomykal, Angela, Monbaliu, Elegast, Borck, Guntram, Mueller, Joerg, Prinz-Langenohl, Reinhild, Dembek, Till, Visser-Vandewalle, Veerle, Wirths, Jochen, Schiller, Petra, Hellmich, Martin and Timmermann, Lars . Quality of Life after Deep Brain Stimulation of Pediatric Patients With Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study With a Subsequent Randomized Double-Blind Crossover (STIM-CP). Mov. Disord.. HOBOKEN: WILEY. ISSN 1531-8257

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, Pauls, K. Amande M., Flossdorf, Pia, Becker, Johannes, Schoenau, Eckhard, Maarouf, Mohammad, Liebig, Thomas, Fricke, Oliver, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Timmermann, Lars (2014). Young Adults with Dyskinetic Cerebral Palsy Improve Subjectively on Pallidal Stimulation, but not in Formal Dystonia, Gait, Speech and Swallowing Testing. Eur. Neurol., 72 (5-6). S. 340 - 349. BASEL: KARGER. ISSN 1421-9913

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

Woopen, Christiane, Pauls, K. Amande M., Koy, Anne, Moro, Elena and Timmermann, Lars (2013). Early application of deep brain stimulation: Clinical and ethical aspects. Prog. Neurobiol., 110. S. 74 - 89. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-5118