10 wichtigste Publikationen:

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

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, 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

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

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

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

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. Nature Genetics  2013; 45: 1067-72

Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele        H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE. Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability. Am J Hum Genet. 2013, 93: 181-190

Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 71, 177-83 2008

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MHG, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Schröder JM, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 73, 1106-1119 2003