Professur für Humangenetik
Präsidium der Justus-Liebig-Universität Gießen » Fachbereiche » Fachbereich 11 - Humanmedizin » Dekanat Fachbereich 11 - Humanmedizin » Zentrum für Klinische Chemie, Klinische Immunologie und Humangenetik
Type of organisation: Professorship
Publications 
1 of 2 
1 of 2
- Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia
Nolte, Dagmar; Kang, Jun-Suk; Hofmann, Amrei; et al. - An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease
Kulessa, M.; Weyer-Menkhoff, I; Viergutz, L.; et al. - Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; et al. - Previously Unrecognized Missense Mutation E126K of PSEN2 Segregates with Early Onset Alzheimer's Disease in a FamilyMueller, Ulrich; Winter, Pia; Bolender, Claus; et al.
- White matter damage is related to ataxia severity in SCA3 (2014)The N141I Mutation in PSEN2 Implications for the Quintessential Case of Alzheimer Disease (2010)Kang, J. -S.; Klein, J. C.; Baudrexel, S.; et al.
- X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism (2013)
Herzfeld, Thilo; Nolte, Dagmar; Grznarova, Maria; et al. - Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene (2010)
Nolte, D.; Sobanski, E.; Wissen, A.; et al.
