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