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, et al, 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

 

2017

Perez-Palma, E., I. Helbig, K. M. Klein, V. Anttila, H. Horn, E. M. Reinthaler, P. Gormley, A. Ganna, A. Byrnes, K. Pernhorst, M. R. Toliat, E. Saarentaus, D. P. Howrigan, P. Hoffman, J. F. Miquel, G. V. De Ferrari, P. Nurnberg, H. Lerche, F. Zimprich, B. A. Neubauer, A. J. Becker, F. Rosenow, E. Perucca, F. Zara, Y. G. Weber, and D. Lal. Heterogeneous Contribution of Microdeletions in the Development of Common Generalised and Focal Epilepsies. J Med Genet 54, no. 9 (2017): 598-606.

Tacke, M., B. A. Neubauer, L. Gerstl, T. Roser, J. Remi, and I. Borggraefe. "[Epilepsy-New Diagnostic Tools, Old Drugs? : Therapeutic Consequences of Epilepsy Genetics]." Nervenarzt 88, no. 12 (2017): 1385-1394.

von Spiczak, S., K. L. Helbig, D. N. Shinde, R. Huether, M. Pendziwiat, C. Lourenco, M. E. Nunes, D. P. Sarco, R. A. Kaplan, D. J. Dlugos, H. Kirsch, A. Slavotinek, M. R. Cilio, M. C. Cervenka, J. S. Cohen, R. McClellan, A. Fatemi, A. Yuen, Y. Sagawa, R. Littlejohn, S. D. McLean, L. Hernandez-Hernandez, B. Maher, R. S. Moller, E. Palmer, J. A. Lawson, C. A. Campbell, C. N. Joshi, D. L. Kolbe, G. Hollingsworth, B. A. Neubauer, H. Muhle, U. Stephani, I. E. Scheffer, S. D. J. Pena, S. M. Sisodiya, and I. Helbig. Dnm1 Encephalopathy: A New Disease of Vesicle Fission. Neurology 89, no. 4 (2017): 385-394.

Wilbrand, J. F., K. Kaps, D. Tabak, U. Bierther, M. Wilbrand, B. A. Neubauer, J. Pons-Kuehnemann, H. P. Howaldt, and A. Hahn. Normal Head Shape Parameters in the First 2 Years of Life and Effect of Helmet Therapy. Neuropediatrics 48, no. 6 (2017): 432-441.

Schänzer A, Kaiser A-K, Mühlfeld C, Paulus W, von Plein H, Rohrbach M, Marquardt T, Neubauer BA, Mengel E, Acker T, Hahn A. Quantification of muscle pathology in infantile Pompe disease. Neuromuscul Disord 2017 27:141-152

Knirsch W, Mayer KN, Scheer I, O’Gorman Tuura R, Schranz D, Wetterling K, Hahn A, Latal B, Reich B. Cerebral MRI abnormalities and neurodevelopmental status in children with single ventricle before Fontan procedure. European Journal of Cardio-Thoracic Surgery 2017 51:740-746

Logeswaran T, Rueblinger L, Bauer J, Lorenz B, Friedburg C, Akintuerk H, Neubauer BA, Hahn A. Interruption of the aortic arch and aortopulmonary window in a patient with de novo heterozygous ACTA2 mutation R189H. Am J Med Genet Part A 2017, 173:959-965

Grzybowski M, Schänzer A, Pepler A, Neubauer BA, Hahn A. Novel STAC3 mutations in the first nonAmerindian patient with Native American Myopathy. Neuropediatrics 2017, 48:451-455

van der Ploeg AT, Kruijshaar ME, Toscano A, Laforêt P, Angelini C, Lachmann RH, Pascual Pascual SI, Roberts M, Rösler K, Stulnig T, van Doorn PA, Van den Bergh PYK, Vissing J13, Schoser B14; European Pompe Consortium (Bembi B, Broomfield A, Boentert M, Desnuelle C, Findling O, Hahn A, Díaz-Manera J, Hundsberger T, Kornblum C, Labarthé F, Laforet P, Mengel KE, Mongini T, Muller-Felber W, Parenti G, Pijnappel WP, Preisler N, Sacconi S, Talim B, Tardieu M, van der Beek NAME, Wenninger S.).European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017 24:768-e31

Schänzer A, Giese K, Viergutz L, Hahn A. Letter to the Editors: Concerning „ Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state” by Takashi et al. and Letter to the Editors by Ortolano et al. MGM Reports 2017 12:33-34

Wilbrand J-F, Kaps K, Tabak D, Bierther U, Wilbrand M, Neubauer BA, Pons-Kuehnemann J, Howaldt H-P, Hahn A. Normal values of cranial vault parameters for the first two years of life and effects of helmet therapy in infants with non-synostotic head deformities. Neuropediatrics 2017 48:432-441.

Rommel FR, Komorowski L, Miske R, Stöcker W, Teegen B, Arneth B, Neubauer BA, Hahn A. Chorea Minor Associated With Anti-Neurochondrin Antibodies. Neuropediatrics 2017 48:482-483

Knörr F, Doll L, Rohde M, Kamrath C, Hahn A. Kohlenmonoxidintoxikation durch Shisha-Rauchen. Monatschr Kinderheilkd 2017

Mayer KN, Knirsch W, Latal B, Scheer I, Wetterling K, Hahn A, Bauer J, Schranz D, Beck I, O`Gorman Tuura R, Reich B. Reduction of brain volumes after neonatal cardiopulmonary bypass surgery in single ventricle congenital heart disease prior to Fontan completion. Pediat Res 2018 83:63-70

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. X-linked Hypomyelination with Spondylometaphyseal Dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics 2017 18:185-194

Moawia A, Shaheen R, Waseem SS, Ewida N, Budde B, Kawalia A, Motameny S, Khan K, Fatima A, Jameel M, Ullah F, Akram T, Ali Z, Abdullah U, Höhne W, Noegel AA, Al-Owain M, Hörtnagel K, Stöbe P, Baig SM, Nürnberg P, Alkuraya FS, Hahn A*, Hussain MS*. Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis. Ann Neurol 2017 82:562-577

Johnson K, Töpf A, Bertoli M, Phillips L, Claeys K, Rakocevic Stojanovic V, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis. 2017 12:173.

Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum. J Neurol. 2018 265:394-401

Reich B, Heye K, Tuura R, Beck I, Wetterling K, Hahn A, Hofmann K, Schranz D, Akintürk H, Latal B, Knirsch W. Neurodevelopmental Outcome and Health-related Quality of Life in Children With Single-ventricle Heart Disease Before Fontan Procedure. Semin Thorac Cardiovasc Surg. 2017 Epub ahead of print

 

2016

Domann, E., F. Fischer, F. Glowatzki, M. Fritzenwanker, T. Hain, S. Zechel-Gran, S. Giffhorn-Katz, and B. A. Neubauer. Draft Genome Sequence of Lactobacillus Delbrueckii Strain #22 Isolated from a Patient with Short Bowel Syndrome and Previous D-Lactic Acidosis and Encephalopathy. Genome Announc 4, no. 4 (2016).

Graf, K., T. Kohl, B. A. Neubauer, F. Dey, D. Faas, F. A. Wanis, M. H. Reinges, E. Uhl, and M. A. Kolodziej. Percutaneous Minimally Invasive Fetoscopic Surgery for Spina Bifida Aperta. Part Iii: Neurosurgical Intervention in the First Postnatal Year. Ultrasound Obstet Gynecol 47, no. 2 (2016): 158-61.

Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U.LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev. 2016 38:399-406

Lemke, J. R., K. Geider, K. L. Helbig, H. O. Heyne, H. Schutz, J. Hentschel, C. Courage, C. Depienne, C. Nava, D. Heron, R. S. Moller, H. Hjalgrim, D. Lal, B. A. Neubauer, P. Nurnberg, H. Thiele, G. Kurlemann, G. L. Arnold, V. Bhambhani, D. Bartholdi, C. R. Pedurupillay, D. Misceo, E. Frengen, P. Stromme, D. J. Dlugos, E. S. Doherty, E. K. Bijlsma, C. A. Ruivenkamp, M. J. Hoffer, A. Goldstein, D. S. Rajan, V. Narayanan, K. Ramsey, N. Belnap, I. Schrauwen, R. Richholt, B. P. Koeleman, J. Sa, C. Mendonca, C. G. de Kovel, S. Weckhuysen, K. Hardies, P. De Jonghe, L. De Meirleir, M. Milh, C. Badens, M. Lebrun, T. Busa, C. Francannet, A. Piton, E. Riesch, S. Biskup, H. Vogt, T. Dorn, I. Helbig, J. L. Michaud, B. Laube, and S. Syrbe. Delineating the Grin1 Phenotypic Spectrum: A Distinct Genetic Nmda Receptor Encephalopathy. Neurology 86, no. 23 (2016): 2171-8.

Schwarz, N., A. Hahn, T. Bast, S. Muller, H. Loffler, S. Maljevic, E. Gaily, I. Prehl, S. Biskup, T. Joensuu, A. E. Lehesjoki, B. A. Neubauer, H. Lerche, and U. B. S. Hedrich. Mutations in the Sodium Channel Gene Scn2a Cause Neonatal Epilepsy with Late-Onset Episodic Ataxia. J Neurol 263, no. 2 (2016): 334-343.

Strzelczyk, A., G. Zschebek, S. Bauer, C. Baumgartner, M. Grond, A. Hermsen, M. Kieslich, G. Kramer, G. Kurlemann, T. W. May, T. Mayer, B. A. Neubauer, M. Pfafflin, B. Plecko, P. Ryvlin, S. Schubert-Bast, H. Stefan, E. Trinka, S. Knake, C. Seifart, and F. Rosenow. Predictors of and Attitudes toward Counseling About Sudep and Other Epilepsy Risk Factors among Austrian, German, and Swiss Neurologists and Neuropediatricians. Epilepsia 57, no. 4 (2016): 612-20.

Tacke, M., L. Gerstl, F. Heinen, I. Heukaeufer, M. Bonfert, T. Bast, S. Cornell, B. A. Neubauer, and I. Borggraefe. Effect of Anticonvulsive Treatment on Neuropsychological Performance in Children with Bects. Eur J Paediatr Neurol 20, no. 6 (2016): 874-879.

Neubauer, B. A., and J. R. Lemke. From Genetics to Genomics: A Short Introduction for Pediatric Neurologists. Neuropediatrics 47, no. 1 (2016): 5-11.

Pal, D. K., C. Ferrie, L. Addis, T. Akiyama, G. Capovilla, R. Caraballo, A. de Saint-Martin, N. Fejerman, R. Guerrini, K. Hamandi, I. Helbig, A. A. Ioannides, K. Kobayashi, D. Lal, G. Lesca, H. Muhle, B. A. Neubauer, T. Pisano, G. Rudolf, C. Seegmuller, T. Shibata, A. Smith, P. Striano, L. J. Strug, P. Szepetowski, T. Valeta, H. Yoshinaga, and M. Koutroumanidis. Idiopathic Focal Epilepsies: The "Lost Tribe". Epileptic Disord 18, no. 3 (2016): 252-88.

Lechner C, Baumann M, Hennes EM, Schanda K, Marquard K, Karenfort M, Leiz S, Pohl D, Venkateswaran S, Pritsch M, Koch J, Schimmel M, Häusler M, Klein A, Blaschek A, Thiels C, Lücke T, Gruber-Sedlmayr U, Kornek B, Hahn A, Leypoldt F, Sandrieser T, Gallwitz H, Stoffels J, Korenke C, Reindl M, Rostásy K. Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease. J Neurol Neurosurg Psychiatry. 2016 87: 897-905

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UB Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol. 2016 263:334-343.

Neubauer BA, Hahn A. Neue Erkenntnisse in der Entstehung fokaler genetisch bedingter Epilepsiesyndrome. Z Epileptol 2016

Lal, D., E. M. Reinthaler, B. Dejanovic, P. May, H. Thiele, A. E. Lehesjoki, G. Schwarz, E. Riesch, M. A. Ikram, C. M. van Duijn, A. G. Uitterlinden, A. Hofman, H. Steinbock, U. Gruber-Sedlmayr, B. Neophytou, F. Zara, A. Hahn, P. Gormley, F. Becker, Y. G. Weber, M. R. Cilio, W. S. Kunz, R. Krause, F. Zimprich, J. R. Lemke, P. Nurnberg, T. Sander, H. Lerche, and B. A. Neubauer. Evaluation of Presumably Disease Causing Scn1a Variants in a Cohort of Common Epilepsy Syndromes. PLoS One 11, no. 3 (2016): e0150426.

Lal, D., B. A. Neubauer, M. R. Toliat, J. Altmuller, H. Thiele, P. Nurnberg, C. Kamrath, A. Schanzer, T. Sander, A. Hahn, and M. Nothnagel. Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One 11, no. 1 (2016): e0146040.

Spors H, Merz C, Dießel J, Dutzmann CM, Neubauer BA, Hahn A. Sulcal artery syndrome in a 10-year-old boy. Neuropediatrics 2016 47: 202-2044

Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genetics in Medicine 2016 18:1226-1234

Koenigstein K, Gramsch C, Kolodziej M, Neubauer BA, Weber A, Lechner S, Hahn A. Chudley-McCullough-Syndrome – variable clinical picture in twins and novel GPSM2 mutation. Neuropediatrics 2016 47:197-201

Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium, Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One. 2016 11:e0150426

Rommel FR, Spors H, Grzybowski M, Hahn A, Neubauer BA. Sphenoid Wing Dysplasia with Pulsatile Exophthalmos in Neurofibromatosis Type 1. Neuropediatrics. 2016 47:278-9.

Schänzer A, Faas D, Rust S, Podskarbi T, van Kuilenburg AB, Scarpa M, Kunze A, Marquardt T, Hahn A Distinctly Elevated Chitotriosidase Activity in a Child with Congenital Andersen Disease (Glycogen Storage Disease Type IV). Klin Padiatr. 2016 228: 277-279

Lehmann A, D'Errico A, Vogel M, Spors H. Spatio-Temporal Characteristics of Inhibition Mapped by Optical Stimulation in Mouse Olfactory Bulb. Front Neural Circuits. 2016 Mar 22; 10:15. doi: 10.3389/fncir.2016.00015. PMID: 27047340

 

2015

Lal, D., A. K. Ruppert, H. Trucks, H. Schulz, C. G. de Kovel, D. Kasteleijn-Nolst Trenite, A. C. Sonsma, B. P. Koeleman, D. Lindhout, Y. G. Weber, H. Lerche, C. Kapser, C. J. Schankin, W. S. Kunz, R. Surges, C. E. Elger, V. Gaus, B. Schmitz, I. Helbig, H. Muhle, U. Stephani, K. M. Klein, F. Rosenow, B. A. Neubauer, E. M. Reinthaler, F. Zimprich, M. Feucht, R. S. Moller, H. Hjalgrim, P. De Jonghe, A. Suls, W. Lieb, A. Franke, K. Strauch, C. Gieger, C. Schurmann, U. Schminke, P. Nurnberg, and T. Sander. Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies. PLoS Genet 11, no. 5 (2015): e1005226.

Lal, D., S. Steinbrucker, J. Schubert, T. Sander, F. Becker, Y. Weber, H. Lerche, H. Thiele, R. Krause, A. E. Lehesjoki, P. Nurnberg, A. Palotie, B. A. Neubauer, H. Muhle, U. Stephani, I. Helbig, A. J. Becker, S. Schoch, J. Hansen, T. Dorn, C. Hohl, N. Luscher, S. von Spiczak, and J. R. Lemke. Investigation of Grin2a in Common Epilepsy Phenotypes. Epilepsy Res 115,  (2015): 95-9.

Larsen, J., K. M. Johannesen, J. Ek, S. Tang, C. Marini, S. Blichfeldt, M. Kibaek, S. von Spiczak, S. Weckhuysen, M. Frangu, B. A. Neubauer, P. Uldall, P. Striano, F. Zara, R. Kleiss, M. Simpson, H. Muhle, M. Nikanorova, B. Jepsen, N. Tommerup, U. Stephani, R. Guerrini, M. Duno, H. Hjalgrim, D. Pal, I. Helbig, and R. S. Moller. The Role of Slc2a1 Mutations in Myoclonic Astatic Epilepsy and Absence Epilepsy, and the Estimated Frequency of Glut1 Deficiency Syndrome. Epilepsia 56, no. 12 (2015): e203-8.

Reinthaler, E. M., B. Dejanovic, D. Lal, M. Semtner, Y. Merkler, A. Reinhold, D. A. Pittrich, C. Hotzy, M. Feucht, H. Steinbock, U. Gruber-Sedlmayr, G. M. Ronen, B. Neophytou, J. Geldner, E. Haberlandt, H. Muhle, M. A. Ikram, C. M. van Duijn, A. G. Uitterlinden, A. Hofman, J. Altmuller, A. Kawalia, M. R. Toliat, P. Nurnberg, H. Lerche, M. Nothnagel, H. Thiele, T. Sander, J. C. Meier, G. Schwarz, B. A. Neubauer, and F. Zimprich. Rare Variants in Gamma-Aminobutyric Acid Type a Receptor Genes in Rolandic Epilepsy and Related Syndromes. Ann Neurol 77, no. 6 (2015): 972-86.

Riechmann, J., A. Strzelczyk, J. P. Reese, R. Boor, U. Stephani, C. Langner, B. A. Neubauer, B. Oberman, H. Philippi, M. Rochel, J. Seeger, P. Seipelt, W. H. Oertel, R. Dodel, F. Rosenow, and H. M. Hamer. Costs of Epilepsy and Cost-Driving Factors in Children, Adolescents, and Their Caregivers in Germany. Epilepsia 56, no. 9 (2015): 1388-97.

Recla S, Hahn A, Apitz C. Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation. Cardiol Young 2015, 25:1-4

Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, Haase C, Baethmann M, Hennermann JB, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E. Outcome of patients with classical infantile Pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep. 2015;20:65-75

Weber A, Köhler A, Hahn A, Müller U: 8p23.1 duplication syndrome: Narrowing of critical interval to 1.80 Mbp. Molecular Cytogenetics 7:94

Hahn A, Lauriol J, Thul J, Behnke-Hall K, Logeswaran T, Schänzer A, Böğürcü N, Garvalov BK, Zenker M, Gelb BD, von Gerlach S, Kandolf R, Kontaridis MI, Schranz D. Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog. Am J Med Genet A. 2015 167:744-751

Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Levy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease. Hum Mutat 2015, 36:1021-8

Schoser B, Laforêt P, Kruijshaar ME, Toscano A, van Doorn PA, van der Ploeg AT; European Pompe Consortium (EPOC). 08th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014. Neuromuscul Disord. 2015 25:674-678

Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U. 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases. 2015 10:134.

Meyer CU, Kurlemann G, Sauter M, Wiemer-Kruel A, Hahn A, Doganci A, Birkholz J, Faber J, Gehring S, Hertzberg C, Zepp F, Knuf M. Inflammatory Characteristics of Monocytes from Pediatric Patients with Tuberous Sclerosis. Neuropediatrics. 2015 46:335-343

Witsch J, Golkowski D, Hahn TT, Petrou S, Spors H. Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation. Neurobiol Dis. 2015 May;77:62-70. doi: PMID: 25731747

Graf K, Kohl T, Neubauer BA, Dey F, Faas D, Wanis FA, Reinges MH, Uhl E, Kolodziej MA. Percutaneous minimally invasive fetoscopic surgery for spina bifida aperta. Part III: neurosurgical intervention in the first postnatal year. Ultrasound Obstet Gynecol. 2016 Feb;47(2):158-61. doi: 10.1002/uog.14937.

 

 

2014

Dejanovic, B., D. Lal, C. B. Catarino, S. Arjune, A. A. Belaidi, H. Trucks, C. Vollmar, R. Surges, W. S. Kunz, S. Motameny, J. Altmuller, A. Kohler, B. A. Neubauer, Consortium Epicure, P. Nurnberg, S. Noachtar, G. Schwarz, and T. Sander. Exonic Microdeletions of the Gephyrin Gene Impair Gabaergic Synaptic Inhibition in Patients with Idiopathic Generalized Epilepsy. Neurobiol Dis 67,  (2014): 88-96.

Wilbrand J-F, Bierther U, Nord T, Reinges M, Hahn A, Christophis P, Streckbein P, Kähling C, Howaldt HP. Hahn A, Howaldt, . Percentile-based assessment of craniosynostosis. Journal of Cranio-Maxillofacial Surgery, 2014, 42: 634-640

Schänzer A, Döring B, Ondrouschek M, Goos S, Garvalov BK, Geyer G, Acker T, Neubauer B, Hahn A. Stress induced up-regulation of SLC19A3 is impaired in patients with thiamine transporter 2 deficiency. Brain Pathol, 2014, 24:270-299

Neubauer BA, Hahn A. Syndromes at risk for status epilepticus in children. Epileptic Disord 2014, Suppl 1: 89-95

Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014, 75: 788-792

Feustel A, Hahn A*, Schneider C, Reichenberger F, Sieweke N, Farahmad P, Franzen W, Kaps M, Rolfs A, Tanislav C. Continuous cardiac troponin release in patients with Fabry disease. PLoS1 2014, 9: e91757

Hahn A. Metabolische Epilepsien im Kindes- und Jugendalter. Z Epileptol 2014, 27: 170-177.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Feucht M, Steinböck H, Hahn A, Neophythou B, Ronen G, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch McGovern S, Becker AJ, Männik K, Winterer G, Toliat M, Lerche H, Nürnberg P, Mefford M, Scheffer IE, Beckmann JS, EPICURE Consortium, Sander T, Jacquemont S, Reymond A F, Neubauer BA, Zimprich. Analysis of ELP4, SRPX2 and interacting genes in typical and atypical Rolandic epilepsy. Epilepsia 2014, 55: e89-93

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Feucht M, Steinböck H, Hahn A, Neophythou B, Ronen G, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch McGovern S, Becker AJ, Männik K, Winterer G, Toliat M, Lerche H, Nürnberg P, Mefford M, Scheffer IE, Beckmann JS, EPICURE Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. 16p11.2 600 kb duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet 2014, 23: 6069-6080

Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR; EuroEPINOMICS Consortium, Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia. 2014 Aug;55(8):e89-93. doi: 10.1111/epi.12712. Epub 2014 Jul 3.

Steiß JO, Durschnabel M, Hamscho N, Burchert D, Hahn A, Weidner W, Altinkilic B. Nierenkarbunkel und perinephritischer Abszess im Kindes- und Jugendalter. Der Urologe 2014, 53: 1476-81

Soelter J, Schumacher J, Spors H, Schmuker M. Automatic segmentation of odor maps in the mouse olfactory bulb using regularized non-negative matrix factorization. Neuroimage. 2014 Sep;98: 279-88. PMID: 2476918

 

 

2013

Welcker S, Grams A, Gizewski E, Neubauer B, Hahn A. Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging. Klin Padiatr 2013,225:86-87

Lal D, Becker K, Motameny S, Altmüller J, Thiele H, Nürnberg P, Ahting U, Rolinski B, Neubauer BA, Hahn A. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics 2013,14:85-87

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 2013,45:1067-1072 (shared first and last authorship, IF=35)

Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA. RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy. PLoS One 2013 8:e73323. doi: 10.1371

Weber A, Köhler A, Hahn A, Neubauer B, Müller U. Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. Neurogenetics 2013,14:251-253

Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet 2013 (Epub ahead of print)

Borggraefe I, Bonfert M, Bast T, Neubauer BA, Schotten KJ, Maßmann K, Noachtar S, Tuxhorn I, May TW, Heinen F; German HEAD Study Group. Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study). Eur J Paediatr Neurol 2013,17:507-514

Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia 2013,54:265-271

Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL, Dahl HA, Brusgaard K, Neubauer B, De Jonghe P, Tommerup N, Stephani U, Hjalgrim H, Møller RS. The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Res 2013,105:229-233

Steiß JO, Altinkilic B, Hamscho N, Hahn A. Acute urinary retention in children: Initial manifestation of caudal regression syndrome. Urologe A. 2013 [Epub ahead of print]

Neubauer BA, Hahn A. Epilepsie bei Kindern: ein kurzes „Update“. Kinderärztliche Praxis 2013,84: 211-214

Becker JS, Neubauer BA, Hahn A. Ein fünfjähriger Junge mit zweitem prolongierten zerebralen Anfall und Erbrechen. Kinderärztliche Praxis 2013,84:215-218

Dey F, Neubauer BA, Hahn A. Ein 8-jähriges Mädchen mit ersten zerebralen Anfällen und Ungeschicklichkeit beim Flötespielen. Kinderärztliche Praxis 2013,84:220-224

Hofmann R, Gattenlöhner S, Wandinger KP, Neubauer BA, Hahn A. Ein 15-jähriges Mädchen mit ersten zerebralen Anfällen, depressiver Verstimmung und ausgeprägter Vergesslichkeit. Kinderärztliche Praxis 2013, 84:225-228

Ebbersmeyer C, Neubauer BA, Hahn A. Ein 8-jähriges Mädchen mit Blinzeltic und Aufmerksamkeitsproblemen. Kinderärztliche Praxis 2013, 84:229-230

Wilbrand J-F, Bierther U, Streckbein P, Böttger S, Pons-Kuehnemann J, Hahn A, Howaldt H-P. centile-based assessment of craniosynostosis. Journal of Cranio-Maxillofacial Surgery, accepted

Eva M. Reinthaler, Dennis Lal, Sebastien Lebon, Michael S. Hildebrand, Hans-Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, 16p11.2 European Consortium, Holger Lerche, Peter Nürnberg, Heather Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, Jacques S. Beckmann, EPICURE Consortium, EuroEPINOMICS Consortium, Thomas Sander, Sebastien Jacquemont, Alexandre Reymond, Fritz Zimprich and Bernd A. Neubauer. 16p11.2 600 kb Duplications Confer Risk for Typical and Atypical Rolandic Epilepsy; BRAIN in press (IF=12)

Dennis Lal, MS, Eva M. Reinthaler, MS, Julian Schubert, Hiltrud Muhle, MD, Erik Riesch, MD, Gerhard Kluger, MD, Kamel Jabbari, PhD, Amit Kawalia, Christine Bäumel, MD, Hans Holthausen, MD, Andreas Hahn, MD, Martha Feucht, MD, Birgit Neophytou, MD, Edda Haberlandt, MD, Felicitas Becker, MD, Janine Altmüller, MD, Holger Thiele, MD, EuroEPINOMICS Consortium, Johannes R. Lemke, MD, Holger Lerche, MD, Peter Nürnberg, PhD, Thomas Sander, MD, Yvonne Weber, MD, Fritz Zimprich, MD, PhD, and Bernd A. Neubauer. MD2 DEPDC5 mutations in Rolandic epilepsy spectrum; submitted

 

2012

Schänzer A, Rau I, Kreß W, Köhler A, Neubauer BA, Hahn A. Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation. Klin Padiatr 2012;224:256-8 (IF 1.772)

Wilbrand J-F Schnidtberg K, Bierther U, Streckbein P, Pons-Kuehnemann J, Christophis P, Hahn A, Schaaf H, Howaldt H-P. Clinical classification of infant non-synostotic cranial deformity. J Pediat, 2012;161:1120-5 (IF 4.115)

Dey F, Möller A, Kemkes-Matthes B, Wilbrand F, Krombach GA, Neubauer BA, Hahn A. Reduced platelet aggregation in a boy with scurvy. Klin Padiatr 2012;224:448-52 (IF 1.772)

Aksu F, Buchfelder M, Ebinger F, Gnekow A, Hahn A, Hernáiz Driever P, Hertzberg C, Knuf M, Kolb AK, Korenke C, Kurlemann G, Marquard O, Merkenschlager A, Polster T, Wiemer-Kruel A, Wilken B, Witt O. TSC SEGA Algorithmus. Kinderärztliche Praxis 2012,83:292-293

Zirn B, M. Shoukier M, Bartels I, Arning L, Hoffjan S, Neubauer B, Hahn A. Neurofibromatose Typ II und geistige Behinderung bei Ringchromosom 22: Was ist der genetische Zusammenhang? Neuropädiatrie in Klink und Praxis 2012, Jahrgang 11, 161-164

Hahn A, Hennermann JB, Marquardt T, Huemer M, Rohrbach M, Müller-Felber W, Mellies U, Stehling F, Kampmann C, Mengel E. M. Pompe im Kindesalter: Aktueller Stand der Diagnostik und Therapie. Monatsschr Kinderheilkd 2012; 160: 1243-50 (IF 0.274)

Hahn A, Neubauer BA. Epileptic diaphragm myoclonus. Epileptic Disorders 2012, 14:418-421 (IF 1.165)

Wilbrand J-F, Seidl M, Wilbrand M, Streckbein P, Böttger S, Pons-Kuehnemann J, Hahn A, Howaldt H-P. A prospective randomized trial on preventative methods for positional head deformity: physiotherapy versus a positioning pillow: J Pediatr 2013,162:1216-1221 (IF 4.115)

Aksu F, Buchfelder M, Ebinger F, Gnekow A, Hahn A, Hernáiz Driever P, Hertzberg C, Knuf M, Kolb AK, Korenke C, Kurlemann G, Marquard O, Merkenschlager A, Polster T, Wiemer-Kruel A, Wilken B, Witt O. TSC SEGA Algorithmus. Kinderärztliche Praxis 2012,83:292-293

Rosenow F, Schade-Brittinger C, Burchardi N, Bauer S, Klein KM, Weber Y, Lerche H, Evers S, Kovac S, Hallmeyer-Elgner S, Winkler G, Springub J, Niedhammer M, Roth E, Eisensehr I, Berrouschot J, Arnold S, Schröder M, Beige A, Oertel WH, Strzelczyk A, Haag A, Reif PS, Hamer HM; LaLiMo Study Group (Arnold S, Berrouschot J, Bongartz U, Claßen J, Dorfmüller S, Eisensehr I, Evers S, Fischer V, Freudenberger T, Haase CG, Heide W, Hielscher H, Hofmann WE, Hoot U, Jackowski-Dohrmann S, Kalischewski P, Kieslich M, Kirn G, Klein M, Klingelhöfer J, Klyk I, Kowalik A, Krohn T, Kurlemann G, Lang M, Loel U, Mayer G, Molitor H, Molt W, Neubauer B, Niedhammer M, Pausch H, Pilz C, Reuner U, Rigas N, Roch K, Rosenow F, Roth E, Rüher K, Schmidt G, Schröder M, Simonow A, Springub J, Städt D, Stefan H, Stenzel C, Stögbaer F, Sunkeler I, Thumulla U, Trollmann R, Unglaub S, Vetter T, Weber Y, Wild B, Winkler G, Wirbatz A, Wollenhaupt E, Zimmerer U, Neubauer BA, Reichmann H, Rosenow F, Krämer G, Martus P, Steinhoff BJ). The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study. J Neurol Neurosurg Psychiatry 2012,83:1093-1098

Neubauer BA, Hahn A. Dooses Epilepsien im Kindes- und Jugendalter. 12. Auflage, Springer-Verlag 2012 (Lehrbuch)

 

2011

Neubauer BA, Hahn A. Rolando-Epilepsie. Sporadisches Auftreten trotz genetischer Ursache. Z Epileptol 2011, 24: 87-92

Neubauer BA, Hahn A. Genetik der Epilepsien. Monatsschr Kinderheilkd 2011, 159: 714-720. (IF 0.274)

Hahn A, Schänzer A, Neubauer BA, Gizewski E, Ahting U, Rolinski B. MERRF-like phenotype associated with a rare mitochondrial tRNAIle mutation (m.4284G>A). Neuropediatrics 2011;42:148-151. (IF 0.937)

Preuss M, Zühlke CJ, Hahn A, Stein M, Nestler U. Traumatic left lateral C2 epiphysiorhexis in a 3-year-old girl--a case report. Eur J Pediatr Surg 2011;21:412-4. (IF 0.808)

Neubauer BA, Hahn A, Tuxhorn I. Progressive and infantile myoclonic epilepsies. In: Wyllie’s treatment of epilepsy. Principles and practice. Eds. Wyllie E, Cascino GD, Gidal BE, Goodkin HP. Wolters Kluwer Health / Lipincott Williams & Wilkins. Philadelphia, Baltimore, New York, London, Buenos Aires, Hongkong, Sydney, Tokyo. 2011. Chapter 21, S. 269-280