Institute of Human Genetics

Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. (2024) Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, et al. Journal article Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al. Journal article Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci (2024) Baumann A, Ruckert C, Meier C, Hutschenreiter T, Remy R, Schnur B, Döbel M, et al. Journal article Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. (2023) Tögel L, Schubart C, Lettmaier S, Neufert C, Hoyer J, Wolff K, Moskalev E, et al. Journal article A reversible state of hypometabolism in a human cellular model of sporadic Parkinson’s disease (2023) Schmidt S, Stautner C, Vu DT, Heinz A, Regensburger M, Karayel O, Trümbach D, et al. Journal article Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease (GCKD) cohort (2023) Reimer KC, Nadal J, Meiselbach H, Schmid M, Schultheiss UT, Kotsis F, Stockmann H, et al. Journal article A comparative observational study on intrasphincteric injections with Botulinum toxin vs. enteral neuromodulation in chronic refractory constipation (2023) Walther M, Müller H, Weiß C, Carbon R, Diez S, Besendörfer M Journal article Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients (2023) Yazar V, Kühlwein JK, Knehr A, Grozdanov V, Ekici AB, Ludolph AC, Danzer KM Journal article Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue (2023) Tauber CV, Schwarz SC, Rösler TW, Arzberger T, Gentleman S, Windl O, Krumbiegel M, et al. Journal article