Lehrstuhl für Humangenetik

Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia. (2022) Winner B, Marterstock D, Kopp C, Dörfler A, Regensburger M, Krumm L, Schmidt M, et al. Journal article In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (2022) Morison LD, Meffert E, Stampfer M, Steiner-Wilke I, Vollmer B, Schulze K, Briggs T, et al. Journal article The Gut–Immune–Brain Axis: An Important Route for Neuropsychiatric Morbidity in Inflammatory Bowel Disease (2022) Masanetz RK, Winkler J, Winner B, Günther C, Süß P Journal article, Review article Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study (2022) Popp B, Ekici AB, Knaup K, Schneider K, Uebe S, Park J, Bafna V, et al. Journal article Detecting tandem repeat variants in coding regions using code-adVNTR (2022) Park J, Bakhtiari M, Popp B, Wiesener M, Bafna V Journal article The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome (2022) Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, et al. Journal article Primary cilia and SHH signaling impairments in human and mouse models of Parkinson's disease (2022) Schmidt S, Luecken MD, Truembach D, Hembach S, Niedermeier KM, Wenck N, Pfluegler K, et al. Journal article Th2 single-cell heterogeneity and clonal distribution at distant sites in helminth-infected mice (2022) Radtke D, Thuma N, Schülein C, Kirchner P, Ekici AB, Schober K, Vöhringer D Journal article Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia (2022) Winner B, Rizo Garza T, Gebhardt L, Riedlberger J, Eberhardt E, Fester L, Alansary D, et al. Other publication type Translocation of Distinct Alpha Synuclein Species from the Nucleus to Neuronal Processes during Neuronal Differentiation (2022) Pieger K, Schmitt V, Gauer C, Gießl N, Prots I, Winner B, Winkler J, et al. Journal article