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.