Neurodegenerative Diseases in Childhood and Adolescence
Prof. Dr. Jutta Gärtner
Cooperation Unit Leader
Robert-Koch-Str. 40
37075 Göttingen

jutta.gaertner@dzne.de
 +49 551 39-8035

Publications

The complete list of publications is found here.

Huppke P, Weissbach S, Church SA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J. Activating de novo mutations in NRF2 cause a multisystem disorder. Nat Commun. 2017 Oct 10; 8:818. doi: 10.1038/s41467-017-00932-7
Gärtner J, Moser H, Valle D. Mutations in the 70 k peroxisomal membrane protein gene in Zellweger syndrome.. Nat Genet. 1992 Jan 01; 1:16-22.
Uhlenberg B, Schuelke M, Ruschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet. 2004 Jan 01; 75:251-260.
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. RNASET2 deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jan 01; 41:773-775.
Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J. Folate receptor alpha defect causes cerebral folate transport deficiency: a new treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet. 2009 Jan 01; 85:354-363.
Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Jan 01; 11:764-773.

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