Professur für Humangenetik
» » » Dekanat Fachbereich 11 - HumanmedizinZentrum für Klinische Chemie, Klinische Immunologie und Humangenetik »
Type of organisation: Professorship
Publications 
1 of 2 
1 of 2
- A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions (2022)
Reis, Marlen Colleen; Patrun, Julia; Ackl, Nibal; et al. - Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia (2021)An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease (2020)
Nolte, Dagmar; Kang, Jun-Suk; Hofmann, Amrei; et al. - Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation (2019)
Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; et al. - A Novel Missense Mutation in AFG3L2 Associated with Late Onset and Slow Progression of Spinocerebellar Ataxia Type 28 (2014)
Loebbe, Anna Mareike; Kang, Jun-Suk; Hilker, Ruediger; et al. - Previously Unrecognized Missense Mutation E126K of PSEN2 Segregates with Early Onset Alzheimer's Disease in a Family (2014)2010)
Mueller, Ulrich; Winter, Pia; Bolender, Claus; et al. - White matter damage is related to ataxia severity in SCA3 (2014)
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
Nolte, D.; Sobanski, E.; Wissen, A.; et al. - The N141I Mutation in PSEN2 Implications for the Quintessential Case of Alzheimer Disease (2010)
Yu, Chang-En; Marchani, Elizabeth; Nikisch, Georg; et al.
