@article{JariusRuprechtWildemannetal.2012,
  author    = {Jarius, Sven and Ruprecht, Klemens and Wildemann, Brigitte and Kuempfel, Tania and Ringelstein, Marius and Geis, Christian and Kleiter, Ingo and Kleinschnitz, Christoph and Berthele, Achim and Brettschneider, Johannes and Hellwig, Kerstin and Hemmer, Bernhard and Linker, Ralf A. and Lauda, Florian and Hayrettin, Christoph A. and Tumani, Hayrettin and Melms, Arthur and Trebst, Corinna and Stangel, Martin and Marziniak, Martin and Hoffmann, Frank and Schippling, Sven and Faiss, J{\"u}rgen H. and Neuhaus, Oliver and Ettrich, Barbara and Zentner, Christian and Guthke, Kersten and Hofstadt-van Oy, Ulrich and Reuss, Reinhard and Pellkofer, Hannah and Ziemann, Ulf and Kern, Peter and Wandinger, Klaus P. and Bergh, Florian Then and Boettcher, Tobias and Langel, Stefan and Liebetrau, Martin and Rommer, Paulus S. and Niehaus, Sabine and M{\"u}nch, Christoph and Winkelmann, Alexander and Zettl, Uwe K and Metz, Imke and Veauthier, Christian and Sieb, J{\"o}rn P. and Wilke, Christian and Hartung, Hans P. and Aktas, Orhan and Paul, Friedemann},
  title     = {Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: A multicentre study of 175 patients},
  series = {Journal of Neuroinflammation},
  volume    = {9},
  journal   = {Journal of Neuroinflammation},
  number    = {14},
  doi       = {10.1186/1742-2094-9-14},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-133636},
  year      = {2012},
  abstract  = {Background: The diagnostic and pathophysiological relevance of antibodies to aquaporin-4 (AQP4-Ab) in patients with neuromyelitis optica spectrum disorders (NMOSD) has been intensively studied. However, little is known so far about the clinical impact of AQP4-Ab seropositivity. Objective: To analyse systematically the clinical and paraclinical features associated with NMO spectrum disorders in Caucasians in a stratified fashion according to the patients' AQP4-Ab serostatus. Methods: Retrospective study of 175 Caucasian patients (AQP4-Ab positive in 78.3\%). Results: Seropositive patients were found to be predominantly female (p < 0.0003), to more often have signs of co-existing autoimmunity (p < 0.00001), and to experience more severe clinical attacks. A visual acuity of <= 0.1 during acute optic neuritis (ON) attacks was more frequent among seropositives (p < 0.002). Similarly, motor symptoms were more common in seropositive patients, the median Medical Research Council scale (MRC) grade worse, and MRC grades <= 2 more frequent, in particular if patients met the 2006 revised criteria (p < 0.005, p < 0.006 and p < 0.01, respectively), the total spinal cord lesion load was higher (p < 0.006), and lesions >= 6 vertebral segments as well as entire spinal cord involvement more frequent (p < 0.003 and p < 0.043). By contrast, bilateral ON at onset was more common in seronegatives (p < 0.007), as was simultaneous ON and myelitis (p < 0.001); accordingly, the time to diagnosis of NMO was shorter in the seronegative group (p < 0.029). The course of disease was more often monophasic in seronegatives (p < 0.008). Seropositives and seronegatives did not differ significantly with regard to age at onset, time to relapse, annualized relapse rates, outcome from relapse (complete, partial, no recovery), annualized EDSS increase, mortality rate, supratentorial brain lesions, brainstem lesions, history of carcinoma, frequency of preceding infections, oligoclonal bands, or CSF pleocytosis. Both the time to relapse and the time to diagnosis was longer if the disease started with ON (p < 0.002 and p < 0.013). Motor symptoms or tetraparesis at first myelitis and > 1 myelitis attacks in the first year were identified as possible predictors of a worse outcome.},
  language  = {en}
}
@phdthesis{Hoffmann2002,
  author    = {Hoffmann, Oliver},
  title     = {Vergleich verschiedener Pr{\"a}parationsverfahren zur Versorgung approximaler kari{\"o}ser Prim{\"a}rl{\"a}sionen},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-5619},
  school      = {Universit{\"a}t W{\"u}rzburg},
  year      = {2002},
  abstract  = {In der vorliegenden Studie wurden verschiedene Pr{\"a}parationsmethoden zur Erstver-sorgung approximaler kari{\"o}ser L{\"a}sionen verglichen. Bei diesen handelte es sich um die Pr{\"a}paration von konventionellen Amalgamslots und Kompositslots mit rotierenden Instrumenten, der Pr{\"a}paration von Kompositslots mit sonoabrasiven halb- bzw. torpedof{\"o}rmigen Instrumenten sowie der Pr{\"a}paration von Kompositslots mit lateralem Zugang. Je Pr{\"a}parationsart wurden von sechs verschiedenen Behandlern je zwei Kavit{\"a}ten an nat{\"u}rlichen Pr{\"a}molaren und Molaren mit standardisierten k{\"u}nstlichen kari{\"o}sen L{\"a}sionen im Phantomkopf erstellt. Die verschiedenen Methoden wurden hinsichtlich des Substanzverlustes, der Kavit{\"a}tenausdehnung, der Besch{\"a}digung der Nachbarz{\"a}hne, der Vollst{\"a}ndigkeit der Kariesexkavation und der Pr{\"a}parationszeit verglichen. Die Bestimmung der Kavit{\"a}tenausdehnung erfolgte mittels planimetrischer Vermess-ung und der Vermessung der Er{\"o}ffnung des Approximalkontaktes („Clearance"). Zur {\"U}berpr{\"u}fung der Verletzung der Nachbarz{\"a}hne und verbliebener Karies wurden Kavit{\"a}ten und Nachbarz{\"a}hne unter dem Auflichtmikroskop betrachtet. Weiterhin wurde der Substanzverlust durch Wiegen vor und nach der Pr{\"a}paration bestimmt. Folgende Ergebnisse wurden beobachtet: I.) Die sonoabrasiven Halbkugelpr{\"a}parationen mit okklusalem bzw. lateralem Zugang wiesen signifikant geringere Substanzverluste auf als die anderen Kavit{\"a}tenformen. Zwischen mesialen und distalen Pr{\"a}parationen wurden keine unterschiedlichen Sub-stanzverluste festgestellt. Hingegen kam es bei der Pr{\"a}paration an Molaren zu signifikant gr{\"o}ßeren Gewichts- verlusten als bei der Pr{\"a}paration an Pr{\"a}molaren. II.) Die durchschnittliche Extensionsfl{\"a}che der sonoabrasiven Pr{\"a}parationen mit late-ralem Zugang war signifikant kleiner als die der abgeschr{\"a}gten Kompositslots mit okklusalem Zugang. Hingegen bestanden keine signifikanten Unterschiede zwischen den Amalgam Kastenkavit{\"a}ten und den sonoabrasiven Halbkugelpr{\"a}parationen mit okklusalem bzw. lateralem Zugang. III.) Entsprechend den Ergebnissen des Substanzverlustes ließen sich keine Unter-schiede zwischen mesialen und distalen Pr{\"a}parationen, jedoch eine gr{\"o}ßere Ka-vit{\"a}tenextension bei den Molaren als bei den Pr{\"a}molaren feststellen. IV.) Unabh{\"a}ngig von der Pr{\"a}parationsmethode kam es bei 70\% der Pr{\"a}parationen zu einer vollst{\"a}ndigen Exkavation der Karies. 25\% der Kavit{\"a}ten wiesen eine gering-f{\"u}gige, 5\% eine deutliche Residualkaries auf. Tendenziell erlaubten die Kavit{\"a}ten mit lateralem Zugang seltener eine vollst{\"a}ndige Entfernung der kari{\"o}sen Zahnsubstanz, wobei sich haupts{\"a}chlich im Bereich des lingualen Kavit{\"a}tenzuganges belassene „Karies" befand. V.) Pr{\"a}molaren zeigten ein signifikant h{\"a}ufigeres Auftreten von unvollst{\"a}ndig exka-vierten kari{\"o}sen Arealen als Molaren. Ein Unterschied zwischen mesialen und dista-len Fl{\"a}chen trat nicht auf. VI.) Bei der Pr{\"a}paration mit sonoabrasiven halbkugel- und torpedof{\"o}rmigen Instru-menten kam es zu signifikant weniger Verletzungen der Nachbarz{\"a}hne als bei der Verwendung von rotierenden Instrumenten. VII.) Unterschiede zwischen Molaren und Pr{\"a}molaren im Ausmaß der Nachbarzahn-verletzung traten nicht auf, hingegen waren deutlich mehr Besch{\"a}digungen von Nach-barz{\"a}hnen nach der Pr{\"a}paration mesialer Kavit{\"a}ten als nach der distaler vor-zufinden. VIII.) Die Pr{\"a}parationszeit der mit sonoabrasiven Instrumenten pr{\"a}parierten Kompo-sitslots mit okklusalem Zugang war signifikant niedriger als die der anderen Metho-den. IX.) Zur Kariesexkavation von Kavit{\"a}ten mit lateralem Zugang wurde signifikant mehr Zeit ben{\"o}tigt als bei den anderen Methoden. X.) Zur Pr{\"a}paration mesialer Kavit{\"a}ten wurde weniger Zeit ben{\"o}tigt als f{\"u}r die Pr{\"a}pa-ration distaler Kavit{\"a}ten. XI.) Bei allen untersuchten Aspekten kam es zu keinen signifikanten Unterschieden zwischen den einzelnen Behandlern.},
  language  = {de}
}
@article{SchulzRuppertHermsetal.2017,
  author    = {Schulz, Herbert and Ruppert, Ann-Kathrin and Herms, Stefan and Wolf, Christiane and Mirza-Schreiber, Nazanin and Stegle, Oliver and Czamara, Darina and Forstner, Andreas J. and Sivalingam, Sugirthan and Schoch, Susanne and Moebus, Susanne and P{\"u}tz, Benno and Hillmer, Axel and Fricker, Nadine and Vatter, Hartmut and M{\"u}ller-Myhsok, Bertram and N{\"o}then, Markus M. and Becker, Albert J. and Hoffmann, Per and Sander, Thomas and Cichon, Sven},
  title     = {Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus},
  series = {Nature Communications},
  volume    = {8},
  journal   = {Nature Communications},
  doi       = {10.1038/s41467-017-01818-4},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-173168},
  year      = {2017},
  abstract  = {Emerging evidence emphasizes the strong impact of regulatory genomic elements in neurodevelopmental processes and the complex pathways of brain disorders. The present genome-wide quantitative trait loci analyses explore the \(cis\)-regulatory effects of single-nucleotide polymorphisms (SNPs) on DNA methylation (meQTL) and gene expression (eQTL) in 110 human hippocampal biopsies. We identify \(cis\)-meQTLs at 14,118 CpG methylation sites and \(cis\)-eQTLs for 302 3′-mRNA transcripts of 288 genes. Hippocampal \(cis\)-meQTL-CpGs are enriched in flanking regions of active promoters, CpG island shores, binding sites of the transcription factor CTCF and brain eQTLs. \(Cis\)-acting SNPs of hippocampal meQTLs and eQTLs significantly overlap schizophrenia-associated SNPs. Correlations of CpG methylation and RNA expression are found for 34 genes. Our comprehensive maps of \(cis\)-acting hippocampal meQTLs and eQTLs provide a link between disease-associated SNPs and the regulatory genome that will improve the functional interpretation of non-coding genetic variants in the molecular genetic dissection of brain disorders.},
  language  = {en}
}
@article{PalladinoChiocchettiFranketal.2020,
  author    = {Palladino, Viola Stella and Chiocchetti, Andreas G. and Frank, Lukas and Haslinger, Denise and McNeill, Rhiannon and Radtke, Franziska and Till, Andreas and Haupt, Simone and Br{\"u}stle, Oliver and G{\"u}nther, Katharina and Edenhofer, Frank and Hoffmann, Per and Reif, Andreas and Kittel-Schneider, Sarah},
  title     = {Energy metabolism disturbances in cell models of PARK2 CNV carriers with ADHD},
  series = {Journal of Clinical Medicine},
  volume    = {9},
  journal   = {Journal of Clinical Medicine},
  number    = {12},
  issn      = {2077-0383},
  doi       = {10.3390/jcm9124092},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-220074},
  year      = {2020},
  abstract  = {The main goal of the present study was the identification of cellular phenotypes in attention-deficit-/hyperactivity disorder (ADHD) patient-derived cellular models from carriers of rare copy number variants (CNVs) in the PARK2 locus that have been previously associated with ADHD. Human-derived fibroblasts (HDF) were cultured and human-induced pluripotent stem cells (hiPSC) were reprogrammed and differentiated into dopaminergic neuronal cells (mDANs). A series of assays in baseline condition and in different stress paradigms (nutrient deprivation, carbonyl cyanide m-chlorophenyl hydrazine (CCCP)) focusing on mitochondrial function and energy metabolism (ATP production, basal oxygen consumption rates, reactive oxygen species (ROS) abundance) were performed and changes in mitochondrial network morphology evaluated. We found changes in PARK2 CNV deletion and duplication carriers with ADHD in PARK2 gene and protein expression, ATP production and basal oxygen consumption rates compared to healthy and ADHD wildtype control cell lines, partly differing between HDF and mDANs and to some extent enhanced in stress paradigms. The generation of ROS was not influenced by the genotype. Our preliminary work suggests an energy impairment in HDF and mDAN cells of PARK2 CNV deletion and duplication carriers with ADHD. The energy impairment could be associated with the role of PARK2 dysregulation in mitochondrial dynamics.},
  language  = {en}
}
@article{TriphanJobstAnjorinetal.2017,
  author    = {Triphan, Simon M. F. and Jobst, Bertram J. and Anjorin, Angela and Sedlaczek, Oliver and Wolf, Ursula and Terekhov, Maxim and Hoffmann, Christian and Ley, Sebastian and D{\"u}ber, Christoph and Biederer, J{\"u}rgen and Kauczor, Hans-Ulrich and Jakob, Peter M. and Wielp{\"u}tz, Mark O.},
  title     = {Reproducibility and comparison of oxygen-enhanced T\(_1\) quantification in COPD and asthma patients},
  series = {PLoS ONE},
  volume    = {12},
  journal   = {PLoS ONE},
  number    = {2},
  doi       = {10.1371/journal.pone.0172479},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-171833},
  year      = {2017},
  abstract  = {T\(_1\) maps have been shown to yield useful diagnostic information on lung function in patients with chronic obstructive pulmonary disease (COPD) and asthma, both for native T\(_1\) and ΔT\(_1\), the relative reduction while breathing pure oxygen. As parameter quantification is particularly interesting for longitudinal studies, the purpose of this work was both to examine the reproducibility of lung T\(_1\) mapping and to compare T\(_1\) found in COPD and asthma patients using IRSnapShotFLASH embedded in a full MRI protocol. 12 asthma and 12 COPD patients (site 1) and further 15 COPD patients (site 2) were examined on two consecutive days. In each patient, T\(_1\) maps were acquired in 8 single breath-hold slices, breathing first room air, then pure oxygen. Maps were partitioned into 12 regions each to calculate average values. In asthma patients, the average T\(_{1,RA}\) = 1206ms (room air) was reduced to T\(_{1,O2}\) = 1141ms under oxygen conditions (ΔT\(_1\) = 5.3\%, p < 5⋅10\(^{-4})\), while in COPD patients both native T\(_{1,RA}\) = 1125ms was significantly shorter (p < 10\(^{-3})\) and the relative reduction to T\(_{1,O2}\) = 1081ms on average ΔT\(_1\) = 4.2\%(p < 10\(^{-5}\)). On the second day, with T\(_{1,RA}\) = 1186ms in asthma and T\(_{1,RA}\) = 1097ms in COPD, observed values were slightly shorter on average in all patient groups. ΔT\(_1\) reduction was the least repeatable parameter and varied from day to day by up to 23\% in individual asthma and 30\% in COPD patients. While for both patient groups T\(_1\) was below the values reported for healthy subjects, the T\(_1\) and ΔT\(_1\) found in asthmatics lies between that of the COPD group and reported values for healthy subjects, suggesting a higher blood volume fraction and better ventilation. However, it could be demonstrated that lung T\(_1\) quantification is subject to notable inter-examination variability, which here can be attributed both to remaining contrast agent from the previous day and the increased dependency of lung T\(_1\) on perfusion and thus current lung state.},
  language  = {en}
}