2018

Bobbili, D. R., D. Lal, P. May, E. M. Reinthaler, K. Jabbari, H. Thiele, M. Nothnagel, W. Jurkowski, M. Feucht, P. Nurnberg, H. Lerche, F. Zimprich, R. Krause, B. A. Neubauer, H. Steinbock, B. Neophytou, J. Geldner, U. Gruber-Sedlmayr, E. Haberlandt, G. M. Ronen, J. Altmuller, T. Sander, and R. Balling. "Exome-Wide Analysis of Mutational Burden in Patients with Typical and Atypical Rolandic Epilepsy." Eur J Hum Genet 26, no. 2 (2018): 258-264.

Heyne, H. O., T. Singh, H. Stamberger, R. Abou Jamra, H. Caglayan, D. Craiu, P. De Jonghe, R. Guerrini, K. L. Helbig, B. P. C. Koeleman, J. A. Kosmicki, T. Linnankivi, P. May, H. Muhle, R. S. Moller, B. A. Neubauer, A. Palotie, M. Pendziwiat, P. Striano, S. Tang, S. Wu, A. Poduri, Y. G. Weber, S. Weckhuysen, S. M. Sisodiya, M. J. Daly, I. Helbig, D. Lal, and J. R. Lemke. "De Novo Variants in Neurodevelopmental Disorders with Epilepsy." Nat Genet 50, no. 7 (2018): 1048-1053.

Jabbari, K., D. R. Bobbili, D. Lal, E. M. Reinthaler, J. Schubert, S. Wolking, V. Sinha, S. Motameny, H. Thiele, A. Kawalia, J. Altmuller, M. R. Toliat, R. Kraaij, J. van Rooij, A. G. Uitterlinden, M. A. Ikram, F. Zara, A. E. Lehesjoki, R. Krause, F. Zimprich, T. Sander, B. A. Neubauer, P. May, H. Lerche, and P. Nurnberg. "Rare Gene Deletions in Genetic Generalized and Rolandic Epilepsies." PLoS One 13, no. 8 (2018): e0202022.

Myers, K. A., A. McGlade, B. A. Neubauer, D. Lal, S. F. Berkovic, I. E. Scheffer, and M. S. Hildebrand. "Kansl1 Variation Is Not a Major Contributing Factor in Self-Limited Focal Epilepsy Syndromes of Childhood." PLoS One 13, no. 1 (2018): e0191546.

Neubauer, B. A. "Rett Syndrome." Neuropediatrics 49, no. 2 (2018): 161-162.

Neubauer, B. A., and U. Schara. "In Memoriam: Professor Hermann Doose." Neuropediatrics 49, no. 4 (2018): 299-300.

Perez-Palma, E., E. Saarentaus, M. Ravoet, G. V. De Ferrari, P. Nurnberg, B. Isidor, B. A. Neubauer, and D. Lal. "Duplications at 19q13.33 in Patients with Neurodevelopmental Disorders." Neurol Genet 4, no. 1 (2018): e210.

Tacke, M., I. Borggraefe, L. Gerstl, F. Heinen, K. Vill, M. Bonfert, T. Bast, B. A. Neubauer, F. Baumeister, M. Baethmann, K. Bentele, C. Blank, H. M. Blank, H. Bode, F. Bosch, U. Brandl, K. Brockmann, P. Dahlem, J. P. Ernst, E. Feldmann, A. Fiedler, M. Gerigk, S. Hess, C. Hikel, H. G. Hoffmann, M. Kieslich, J. Klepper, G. Kluger, H. Koch, W. Koch, R. Korinthenberg, I. Krois, H. Kuhne, G. Kurlemann, M. Mandl, U. Mause, P. Navratil, J. Opp, J. Penzien, V. Prietsch, A. Quattlander, D. Rating, U. Schara, M. G. Shamdeen, A. Sprinz, H. Wendker-Magrabi, U. Stephani, H. Muhle, H. M. Strassburg, B. Topke, R. Trollmann, E. Tuschen-Hofstatter, S. Waltz, G. Weber, F. U. Wien, M. Wolff, T. Polster, H. Freitag, O. Sonmez, K. Reinhardt, M. Traus, and Z. Hoovey. "Effects of Levetiracetam and Sulthiame on Eeg in Benign Epilepsy with Centrotemporal Spikes: A Randomized Controlled Trial." Seizure 56,  (2018): 115-120.

Tacke, M., N. Rupp, L. Gerstl, F. Heinen, K. Vill, M. Bonfert, B. A. Neubauer, T. Bast, and I. Borggraefe. "Benign Epilepsy with Centrotemporal Spikes: Correlating Spike Frequency and Neuropsychology." Acta Neurol Scand 138, no. 6 (2018): 475-481.

Tiefes, A. M., T. Hartlieb, M. Tacke, C. von Stulpnagel-Steinbeis, L. H. G. Larsen, Q. Hao, H. A. Dahl, B. A. Neubauer, L. Gerstl, M. Kudernatsch, G. J. Kluger, and I. Borggraefe. "Mesial Temporal Sclerosis in Scn1a-Related Epilepsy: Two Long-Term Eeg Case Studies." Clin EEG Neurosci,  (2018): 1550059418794347.

Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Hereditäre Neuropathien: Genetische (Panel-)Diagnostik und klinische Überschneidungen. Deutsches Ärzteblatt 2018, 115:91-97

Schänzer A, Rupp S, Gräf S, Zengeler D, Jux C, Akintürk H, Gulatz L, Mazhari N, Acker T, Van Coster R, Garvalov BK, Hahn A. Dysregulated autophagy in a patient with BAG3 Pro209Leu associated restrictive cardiomyopathy. Mol Genet Metab 2018 123:388-399

Schänzer A, Rupp S, Garvalov B, Hahn A. Clinicopathological features associated with the BAG3-Pro209Leu mutation. Mol Genet Metab Reports 2018 15:64

Wilbrand JF, Schwertel L, Howaldt HP, Stein M, Hahn A*, Christophis P*. Die chirurgische Korrektur prämaturer Kraniosynostosen. Kraniosynostosen. Päd Praxis Band89/2, 2018, 241-251

Hahn A. Nusinersen - 5q-assozierte spinale Muskelatrophie: Antisense- Oligonukleotid als neues Therapieprinzip. Drug Report Heft 21, 2017, 1-11

Giese K, Wisch H, Hahn A. Therapie der 5q-assoziierten Spinalen Muskelatrophie mit Nusinersen – Erste Erfahrungen. Neuropädiatrie in Klinik und Praxis 2018 16:58-62

Lampe C, Hahn A, Fessler. Diagnostik und Therapie des Morbus Hunter. Thieme-Refresher

Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Weiß C, Theophil M, Kirschner J. Evaluation of children with SMA type 1 under treatment with nusinersen within the Expanded Access Program in Germany. J Neuromuscul Dis 2018;5:135-143

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren Patterson C, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Lek M, MacArthur DG, Straub V. Detection of variants in dystroglycanopathy-associated genes through targeted whole exome sequencing. Skeletal Muscle 2018, 8:23

Rupp S, Felimban M, Schänzer A, Schranz D, Marschall C, Zenker M, Logeswaran T, Neuhäuser C, Thul J, Jux C, Hahn A. Genetic basis of hypertrophic cardiomyopathy in children. Clinical Research in Cardiology

Wang H, Schänzer A, Kampschulte B, Daimagüler H-S, Logeswaran T, Schlierbach H, Petzinger J, Ehrhardt H, Hahn A, Cirak S,A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. Acta Neuropathologica Communications

de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8.

Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K.  Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. Eur J Med Genet. 2018 Nov 10. pii: S1769-7212(18)30265-9

Heye KN, Knirsch W, Latal B, Scheer I, Wetterling K, Hahn A, Akintürk H, Schranz D, Beck I, O Gorman Tuura R, Reich B. Health-related quality of life in pre-school age children with single-ventricle congenital heart disease. Cardiology in the Young, accepted