734 results on '"Brüggemann, N"'
Search Results
2. An MRI method for parcellating the human striatum into matrix and striosome compartments in vivo
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Waugh, JL, Hassan, AAO, Kuster, JK, Levenstein, JM, Warfield, SK, Makris, N, Brüggemann, N, Sharma, N, Breiter, HC, and Blood, AJ
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- 2022
- Full Text
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3. Ein Fenster ins Gehirn: Vergleich der retinalen Fluoreszenzlebensdauer zwischen Parkinson-Patienten und gesunden Probanden
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Miura, Y, Rauenbusch, K, Prasuhn, J, Brüggemann, N, Grisanti, S, Sonntag, SR, Miura, Y, Rauenbusch, K, Prasuhn, J, Brüggemann, N, Grisanti, S, and Sonntag, SR
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- 2024
4. Influence of wind strength and direction on diffusive methane fluxes and atmospheric methane concentrations above the North Sea
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Bussmann, I., Achterberg, E.P., Brix, H., Brüggemann, N., Flöser, G., Schütze, Claudia, Fischer, P., Bussmann, I., Achterberg, E.P., Brix, H., Brüggemann, N., Flöser, G., Schütze, Claudia, and Fischer, P.
- Abstract
Quantification of the diffusive methane fluxes between the coastal ocean and atmosphere is important to constrain the atmospheric methane budget. The determination of the fluxes in coastal waters is characterized by a high level of uncertainty. To improve the accuracy of the estimation of coastal methane fluxes, high temporal and spatial sampling frequencies of dissolved methane in seawater are required, as well as the quantification of atmospheric methane concentrations, wind speed and wind direction above the ocean. In most cases, these atmospheric data are obtained from land-based atmospheric and meteorological monitoring stations in the vicinity of the coastal ocean methane observations.In this study, we measured wind speed, wind direction and atmospheric methane directly on board three research vessels in the southern North Sea and compared the local and remote atmospheric and meteorological measurements on the quality of the flux data. In addition, we assessed the source of the atmospheric methane measured in the study area in the German Bight using air mass back-trajectory assessments.The choice of the wind speed data source had a strong impact on the flux calculations. Fluxes based on wind data from nearby weather stations amounted to only 58 ± 34 % of values based on in situ data. Using in situ data, we calculated an average diffusive methane sea-to-air flux of 221 ± 351 µmol m−2 d−1 (n = 941) and 159 ± 444 µmol m−2 d−1 (n = 3028) for our study area in September 2019 and 2020, respectively. The area-weighted diffusive flux for the entire area of Helgoland Bay (3.78 × 109 m2) was 836 ± 97 and 600 ± 111 kmol d−1 for September 2019 and 2020, respectively. Using the median value of the diffusive fluxes for these extrapolations resulted in much lower values compared to area-weighted extrapolations or mean-based extrapolations.In general, at high wind speeds, the surface water turbulence is enhanced, and the diffusive flux increases. However, this enhanc
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- 2024
5. Value of sun-induced chlorophyll fluorescence for quantifying hydrological states and fluxes: Current status and challenges
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Jonard, F., De Cannière, S., Brüggemann, N., Gentine, P., Short Gianotti, D.J., Lobet, G., Miralles, D.G., Montzka, C., Pagán, B.R., Rascher, U., and Vereecken, H.
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- 2020
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6. Modeling Soil Processes: Review, Key Challenges, and New Perspectives
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Vereecken, H, Schnepf, A, Hopmans, JW, Javaux, M, Or, D, Roose, T, Vanderborght, J, Young, MH, Amelung, W, Aitkenhead, M, Allison, SD, Assouline, S, Baveye, P, Berli, M, Brüggemann, N, Finke, P, Flury, M, Gaiser, T, Govers, G, Ghezzehei, T, Hallett, P, Franssen, HJ Hendricks, Heppell, J, Horn, R, Huisman, JA, Jacques, D, Jonard, F, Kollet, S, Lafolie, F, Lamorski, K, Leitner, D, McBratney, A, Minasny, B, Montzka, C, Nowak, W, Pachepsky, Y, Padarian, J, Romano, N, Roth, K, Rothfuss, Y, Rowe, EC, Schwen, A, Šimůnek, J, Tiktak, A, Van Dam, J, Zee, SEATM, Vogel, HJ, Vrugt, JA, Wöhling, T, and Young, IM
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Physical Geography and Environmental Geoscience ,Soil Sciences ,Crop and Pasture Production ,Environmental Engineering - Abstract
The remarkable complexity of soil and its importance to a wide range of ecosystem services presents major challenges to the modeling of soil processes. Although major progress in soil models has occurred in the last decades, models of soil processes remain disjointed between disciplines or ecosystem services, with considerable uncertainty remaining in the quality of predictions and several challenges that remain yet to be addressed. First, there is a need to improve exchange of knowledge and experience among the different disciplines in soil science and to reach out to other Earth science communities. Second, the community needs to develop a new generation of soil models based on a systemic approach comprising relevant physical, chemical, and biological processes to address critical knowledge gaps in our understanding of soil processes and their interactions. Overcoming these challenges will facilitate exchanges between soil modeling and climate, plant, and social science modeling communities. It will allow us to contribute to preserve and improve our assessment of ecosystem services and advance our understanding of climate-change feedback mechanisms, among others, thereby facilitating and strengthening communication among scientific disciplines and society. We review the role of modeling soil processes in quantifying key soil processes that shape ecosystem services, with a focus on provisioning and regulating services. We then identify key challenges in modeling soil processes, including the systematic incorporation of heterogeneity and uncertainty, the integration of data and models, and strategies for effective integration of knowledge on physical, chemical, and biological soil processes. We discuss how the soil modeling community could best interface with modern modeling activities in other disciplines, such as climate, ecology, and plant research, and how to weave novel observation and measurement techniques into soil models. We propose the establishment of an international soil modeling consortium to coherently advance soil modeling activities and foster communication with other Earth science disciplines. Such a consortium should promote soil modeling platforms and data repository for model development, calibration and intercomparison essential for addressing contemporary challenges.
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- 2016
7. Pathways and watermass transformation of Atlantic Water entering the Nordic Seas through Denmark Strait in two high resolution ocean models
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Ypma, S.L., Brüggemann, N., Georgiou, S., Spence, P., Dijkstra, H.A., Pietrzak, J.D., and Katsman, C.A.
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- 2019
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8. Schwindende Sinne – progrediente Ataxie, Taubheit und Blindheit bei einer 42-jährigen Patientin
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Borsche, M., Baumann, H., Klein, C., Münte, T. F., and Brüggemann, N.
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- 2020
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9. Grenzen der Exomsequenzierung in der Diagnostik genetischer Erkrankungen
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Prasuhn, J., Lohmann, K., Hanßen, H., Münchau, A., and Brüggemann, N.
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- 2019
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10. Isolated lingual dystonia as a presenting symptom of X-linked dystonia parkinsonism
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Dakay, D., primary, Saranza, G., additional, Leonardo, Z., additional, Brüggemann, N., additional, and Westenberger, A., additional
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- 2023
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11. Spatial controls of topsoil and subsoil organic carbon turnover under C3–C4 vegetation change
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Schiedung, H., Tilly, N., Hütt, C., Welp, G., Brüggemann, N., and Amelung, W.
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- 2017
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12. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
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Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., Tumas, V., et al., Vollstedt, E.J., Schaake, S., Lohmann, K., Padmanabhan, S., Brice, A., Lesage, S., Tesson, C., Vidailhet, M., Wurster, I., Hentati, F., Mirelman, A., Giladi, N., Marder, K., Waters, C., Fahn, S., Kasten, M., Brüggemann, N., Borsche, M., Foroud, T., Tolosa, E., Garrido, A., Annesi, G., Gagliardi, M., Bozi, M., Stefanis, L., Ferreira, J.J., Guedes, L. Correia, Avenali, M., Petrucci, S., Clark, L., Fedotova, E.Y., Abramycheva, N.Y., Alvarez, V., Menéndez-González, M., Maestre, S. Jesús, Gómez-Garre, P., Mir, P., Belin, A.C., Ran, C., Lin, Chih-Yu, Kuo, M.C., Crosiers, D., Wszolek, Z.K., Ross, O.A., Jankovic, J., Nishioka, K., Funayama, M., Clarimon, J., Williams-Gray, C.H., Camacho, M., Cornejo-Olivas, M., Torres-Ramirez, L., Wu, Y.R., Lee-Chen, G.J., Morgadinho, A., Pulkes, T., Termsarasab, P., Berg, D., Kuhlenbäumer, G., Kühn, A.A., Borngräber, F., Michele, G. de, Rosa, A. De, Zimprich, A., Puschmann, A., Mellick, G.D., Dorszewska, J., Carr, J., Ferese, R., Gambardella, S., Chase, B., Markopoulou, K., Satake, W., Toda, T., Rossi, M., Merello, M., Lynch, T., Olszewska, D.A., Lim, S.Y., Ahmad-Annuar, A., Tan, A.H., Al-Mubarak, B., Hanagasi, H., Koziorowski, D., Ertan, S., Genç, G., Aguiar, P. de Carvalho, Barkhuizen, M., Pimentel, M.M.G., Saunders-Pullman, R., Warrenburg, B.P.C. van de, Bressman, S., Toft, M., Appel-Cresswell, S., Lang, A.E., Skorvanek, M., Boon, A.J., Krüger, R., Sammler, E.M., and Tumas, V., et al.
- Abstract
Item does not contain fulltext, BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS: We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS: We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS: Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward
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- 2023
13. Fate of horizontal-gene-transfer markers and beta-lactamase genes during thermophilic composting of human excreta
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Werner, K.A., Feyen, L., Hübner, Tobias, Brüggemann, N., Prost, K., Grohmann, E., Werner, K.A., Feyen, L., Hübner, Tobias, Brüggemann, N., Prost, K., and Grohmann, E.
- Abstract
Thermophilic composting is a suitable treatment for the recycling of organic wastes for agriculture. However, using human excreta as feedstock for composting raises concerns about antibiotic resistances. We analyzed samples from the start and end of a thermophilic composting trial of human excreta, together with green cuttings and straw, with and without biochar. Beta-lactamase genes blaCTX-M, blaIMP, and blaTEM conferring resistance to broad-spectrum beta-lactam antibiotics, as well as horizontal gene transfer marker genes, intI1 and korB, were quantified using qPCR. We found low concentrations of the beta-lactamase genes in all samples, with non-significant mean decreases in blaCTX-M and blaTEM copy numbers and a mean increase in blaIMP copy numbers. The decrease in both intI1 and korB genes from start to end of composting indicated that thermophilic composting can decrease the horizontal spread of resistance genes. Thus, thermophilic composting can be a suitable treatment for the recycling of human excreta.
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- 2023
14. Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD cohort
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Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., School of Medicine, Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., and School of Medicine
- Abstract
Background: as gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: the objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: we conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: we collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward, Open Access funding enabled and organized by Projekt DEAL. Funding text 1: Carolyn M. Sue: Intellectual Property Rights: WO 2015/157794 A1. Advisory Boards: AbbVie. Employment: Northern Sydney Local Health District, Sydney, Australia. Honoraria: The International Movement Disorder Society for course directorships and invited lectures. Patents: WO 2015/157794 A1. Grants: 2018–22 NHMRC Partnership grant (APP1151906); 2018–22 MRFF NHMRC Practitioner Fellowship (App1136800); 2020–2025 NHMRC Partnership grant (APP11179029); 2020–2023 NHMRC Ideas Grant (APP1184403); 2021–5 MRFF 2020 Genomics Health Futures Mission Grant (APP2007959); 2021–23 ASAP Project grant ; Funding text 2: Natalya Y. Abramycheva: Employment: Research Center of Neurology, Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia. Grants: Russian Science Foundation ; Funding text 3: Rachel Saunders?Pullman: Employment: Icahn School of Medicine at Mount Sinai, New York City, New York, USA. Grants: NIH 1U01NS107016?01A1; Bigglesworth Family Foundation. Others: Bachmann?Strauss Chair ; Funding text 4: Zbigniew K. Wszolek: Advisory Boards: Vigil Neuroscience, Inc. Employment: Mayo Clinic, Jacksonville, Florida, USA. Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, PI or co?PI on Biohaven Pharmaceuticals, Inc. (BHV4157?206 and BHV3241?301), Neuraly, Inc. (NLY01?PD?1), and Vigil Neuroscience, Inc. (VGL101?01.001 and VGL101?01.002). He also serves as the co?PI of the Mayo Clinic APDA Center for Advanced Research. Others: Donations from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation ; Funding text 5: Vladimir S. Kostic: Employment: School of Medicine, University of Belgrade, Serbia. Grants: Project No 175090 Ministry of Education, Science and Technological Development of Serbia. Project ??28 Serbian Academy of S
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- 2023
15. Treatabolome DB: linking gene and variants with treatments for rare diseases
- Author
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Corvó, A., Matalonga, L., Hernandez-Ferrer, C., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., de Sandre-Giovannoli, Annachiara, Desaphy, J., Altamura, C., Wahbi, K., Vigouroux, C., Zurek, B., Rheinard, C., Andrés, D. Gómez, Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Yaou, R. Ben, Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centro Nacional de Analisis Genomico [Barcelona] (CNAG)
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Actionable genes - Abstract
International audience; Although next-generation sequencing (NGS) has drastically improved diagnosis for patients with rare diseases (RDs), access to knowledge of effective treatments is still sparse and often unclear. The large number of RDs (>7,000 estimated) and their genetic heterogeneity make the identification of existing treatments difficult for clinicians. To facilitate treatment visibility, Solve-RD has promoted the development of the Treatabolome DB, a database to facilitate the identification of putative treatments linked to the causative gene or genetic variant/s.A relational database maps genetic variants, or genes, to treatments according to the information collected through systematic literature reviews (SLRs) produced by disease experts. To date, 8 SLRs have been completed on congenital myasthenic syndromes, laminopathies, muscular channelopathies, mitochondrial disorders (Leigh syndromes), hereditary peripheral neuropathies, genetic forms of Parkinson's disease, and metabolic myopathies. Currently, the Treatabolome consists of a dataset of more than 180 different treatments addressing more than 1000 unique variants and 77 genes, that can be interrogated through a web portal by clinicians and researchers. Gene and variant associated treatments can be programmatically queried with the API. The RD-Connect GPAP already incorporates a connection with the Treatabolome by benefitting from the open API of the platform.
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- 2023
16. Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism
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Tronnier, V.M., Domingo, A., Moll, C.K., Rasche, D., Mohr, C., Rosales, R., Capetian, P., Jamora, R.D., Lee, L.V., Münchau, A., Diesta, C.C., Tadic, V., Klein, C., Brüggemann, N., and Moser, A.
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- 2015
- Full Text
- View/download PDF
17. ICON‐O: The Ocean Component of the ICON Earth System Model—Global Simulation Characteristics and Local Telescoping Capability
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Korn, P., Brüggemann, N., Jungclaus, J. H., Lorenz, S. J., Gutjahr, O., Haak, H., Linardakis, L., Mehlmann, C., Mikolajewicz, U., Notz, D., Putrasahan, D. A., Singh, V., von Storch, J.‐S., Zhu, X., Marotzke, J., and 1 Max Planck Institute for Meteorology Hamburg Germany
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Global and Planetary Change ,ocean dynamics ,structure preservation numerics ,ddc:551.46 ,ocean modeling ,General Earth and Planetary Sciences ,Environmental Chemistry ,unstructured grid modeling ,local refinement - Abstract
We describe the ocean general circulation model Icosahedral Nonhydrostatic Weather and Climate Model (ICON‐O) of the Max Planck Institute for Meteorology, which forms the ocean‐sea ice component of the Earth system model ICON‐ESM. ICON‐O relies on innovative structure‐preserving finite volume numerics. We demonstrate the fundamental ability of ICON‐O to simulate key features of global ocean dynamics at both uniform and non‐uniform resolution. Two experiments are analyzed and compared with observations, one with a nearly uniform and eddy‐rich resolution of ∼10 km and another with a telescoping configuration whose resolution varies smoothly from globally ∼80 to ∼10 km in a focal region in the North Atlantic. Our results show first, that ICON‐O on the nearly uniform grid simulates an ocean circulation that compares well with observations and second, that ICON‐O in its telescope configuration is capable of reproducing the dynamics in the focal region over decadal time scales at a fraction of the computational cost of the uniform‐grid simulation. The telescopic technique offers an alternative to the established regionalization approaches. It can be used either to resolve local circulation more accurately or to represent local scales that cannot be simulated globally while remaining within a global modeling framework., Plain Language Summary: Icosahedral Nonhydrostatic Weather and Climate Model (ICON‐O) is a global ocean general circulation model that works on unstructured grids. It rests on novel numerical techniques that belong to the class of structure‐preserving finite Volume methods. Unstructured grids allow on the one hand a uniform coverage of the sphere without resolution clustering, and on the other hand they provide the freedom to intentionally cluster grid points in some region of interest. In this work we run ICON‐O on an uniform grid of approximately 10 km resolution and on a grid with four times less degrees of freedom that is stretched such that in the resulting telescoping grid within the North Atlantic the two resolutions are similar, while outside the focal area the grid approaches smoothly ∼80 km resolution. By comparison with observations and reanalysis data we show first, that the simulation on the uniform 10 km grid provides a decent mesoscale eddy rich simulation and second, that the telescoping grid is able to reproduce the mesoscale rich circulation locally in the North Atlantic and on decadal time scales. This telescoping technique of unstructured grids opens new research directions., Key Points: We describe Icosahedral Nonhydrostatic Weather and Climate Model (ICON‐O) the ocean component of ICON‐ESM 1.0, based on the ICON modeling framework. ICON‐O is analyzed in a globally mesoscale‐rich simulation and in a telescoping configuration. In telescoping configuration ICON‐O reproduces locally the eddy dynamics with less computational costs than the uniform configuration., https://swiftbrowser.dkrz.de/public/dkrz_07387162e5cd4c81b1376bd7c648bb60/kornetal2021, https://mpimet.mpg.de/en/science/modeling-with-icon/code-availability
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- 2022
18. The ICON Earth System Model version 1.0
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Jungclaus, J. H., Lorenz, S. J., Schmidt, H., Brovkin, V., Brüggemann, N., Chegini, F., Crüger, T., De‐Vrese, P., Gayler, V., Giorgetta, M. A., Gutjahr, O., Haak, H., Hagemann, S., Hanke, M., Ilyina, T., Korn, P., Kröger, J., Linardakis, L., Mehlmann, C., Mikolajewicz, U., Müller, W. A., Nabel, J. E. M. S., Notz, D., Pohlmann, H., Putrasahan, D. A., Raddatz, T., Ramme, L., Redler, R., Reick, C. H., Riddick, T., Sam, T., Schneck, R., Schnur, R., Schupfner, M., Storch, J.‐S., Wachsmann, F., Wieners, K.‐H., Ziemen, F., Stevens, B., Marotzke, J., Claussen, M., Lorenz, S. J., 1 Max‐Planck‐Institute for Meteorology Hamburg Germany, Schmidt, H., Brovkin, V., Brüggemann, N., Chegini, F., Crüger, T., De‐Vrese, P., Gayler, V., Giorgetta, M. A., Gutjahr, O., Haak, H., Hagemann, S., 4 Helmholtz Zentrum Hereon Geesthacht Germany, Hanke, M., 5 Deutsches Klimarechenzentrum Hamburg Germany, Ilyina, T., Korn, P., Kröger, J., Linardakis, L., Mehlmann, C., Mikolajewicz, U., Müller, W. A., Nabel, J. E. M. S., Notz, D., Pohlmann, H., Putrasahan, D. A., Raddatz, T., Ramme, L., Redler, R., Reick, C. H., Riddick, T., Sam, T., Schneck, R., Schnur, R., Schupfner, M., von Storch, J.‐S., Wachsmann, F., Wieners, K.‐H., Ziemen, F., Stevens, B., Marotzke, J., and Claussen, M.
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Global and Planetary Change ,General Earth and Planetary Sciences ,Environmental Chemistry ,ddc:550.285 ,ddc:551.63 - Abstract
This work documents the ICON‐Earth System Model (ICON‐ESM V1.0), the first coupled model based on the ICON (ICOsahedral Non‐hydrostatic) framework with its unstructured, icosahedral grid concept. The ICON‐A atmosphere uses a nonhydrostatic dynamical core and the ocean model ICON‐O builds on the same ICON infrastructure, but applies the Boussinesq and hydrostatic approximation and includes a sea‐ice model. The ICON‐Land module provides a new framework for the modeling of land processes and the terrestrial carbon cycle. The oceanic carbon cycle and biogeochemistry are represented by the Hamburg Ocean Carbon Cycle module. We describe the tuning and spin‐up of a base‐line version at a resolution typical for models participating in the Coupled Model Intercomparison Project (CMIP). The performance of ICON‐ESM is assessed by means of a set of standard CMIP6 simulations. Achievements are well‐balanced top‐of‐atmosphere radiation, stable key climate quantities in the control simulation, and a good representation of the historical surface temperature evolution. The model has overall biases, which are comparable to those of other CMIP models, but ICON‐ESM performs less well than its predecessor, the Max Planck Institute Earth System Model. Problematic biases are diagnosed in ICON‐ESM in the vertical cloud distribution and the mean zonal wind field. In the ocean, sub‐surface temperature and salinity biases are of concern as is a too strong seasonal cycle of the sea‐ice cover in both hemispheres. ICON‐ESM V1.0 serves as a basis for further developments that will take advantage of ICON‐specific properties such as spatially varying resolution, and configurations at very high resolution., Plain Language Summary: ICON‐ESM is a completely new coupled climate and earth system model that applies novel design principles and numerical techniques. The atmosphere model applies a non‐hydrostatic dynamical core, both atmosphere and ocean models apply unstructured meshes, and the model is adapted for high‐performance computing systems. This article describes how the component models for atmosphere, land, and ocean are coupled together and how we achieve a stable climate by setting certain tuning parameters and performing sensitivity experiments. We evaluate the performance of our new model by running a set of experiments under pre‐industrial and historical climate conditions as well as a set of idealized greenhouse‐gas‐increase experiments. These experiments were designed by the Coupled Model Intercomparison Project (CMIP) and allow us to compare the results to those from other CMIP models and the predecessor of our model, the Max Planck Institute for Meteorology Earth System Model. While we diagnose overall satisfactory performance, we find that ICON‐ESM features somewhat larger biases in several quantities compared to its predecessor at comparable grid resolution. We emphasize that the present configuration serves as a basis from where future development steps will open up new perspectives in earth system modeling., Key Points: This work documents ICON‐ESM 1.0, the first version of a coupled model based on the ICON framework. Performance of ICON‐ESM is assessed by means of CMIP6 Diagnosis, Evaluation, and Characterization of Klima experiments at standard CMIP‐type resolution. ICON‐ESM reproduces the observed temperature evolution. Biases in clouds, winds, sea‐ice, and ocean properties are larger than in MPI‐ESM., European Union H2020 ESM2025, European Union H2020 COMFORT, European Union H2020ESiWACE2, Deutsche Forschungsgemeinschaft TRR181, Deutsche Forschungsgemeinschaft EXC 2037, European Union H2020, Deutscher Wetterdienst, Bundesministerium fuer Bildung und Forschung, http://esgf-data.dkrz.de/search/cmip6-dkrz/, https://mpimet.mpg.de/en/science/modeling-with-icon/code-availability, http://cera-www.dkrz.de/WDCC/ui/Compact.jsp?acronym=RUBY-0_ICON-_ESM_V1.0_Model
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- 2022
19. Effects of Tree Species on C- and N-Cycling and Biosphere-Atmosphere Exchange of Trace Gases in Forests
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Papen, H., Rosenkranz, P., Butterbach-Bahl, K., Gasche, R., Willibald, G., Brüggemann, N., Binkley, Dan, editor, and Menyailo, Oleg, editor
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- 2005
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20. Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation
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Krause, P., Brüggemann, N., Völzmann, S., Horn, A., Kupsch, A., Schneider, G.-H., Lohmann, K., and Kühn, A.
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- 2015
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21. Emission of Biogenic Volatile Organic Compounds: An Overview of Field, Laboratory and Modelling Studies Performed during the ‘Tropospheric Research Program’ (TFS) 1997–2000
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Schnitzler, J.-P., Bauknecht, N., Brüggemann, N., Einig, W., Forkel, R., Hampp, R., Heiden, A. C., Heizmann, U., Hoffmann, T., Holzke, C., Jaeger, L., Klauer, M., Komenda, M., Koppmann, R., Kreuzwieser, J., Mayer, H., Rennenberg, H., Smiatek, G., Steinbrecher, R., Wildt, J., Zimmer, W., Seiler, W., editor, Becker, K.-H., editor, and Schaller, E., editor
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- 2002
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22. The cerebellar bioenergetic state predicts treatment response in COQ8A-related ataxia
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Prasuhn, J., Göttlich, M., Ebeling, B., Bodemann, C., Großer, S., Wellach, I., Reuther, K., Hanssen, H., and Brüggemann, N.
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- 2022
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23. Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility
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Atalaia, A, Ferrer, C Hernandez, Corvó, A, Matalonga, L, Thompson, R, Carmody, L, Piscia, D, Macaya, A, Lochmuller, A, Manta, A, Fontaine, B, Vicart, S, Desaphy, JF, Altamura, C, Wahbi, K, de Sandre-Giovannoli, Annachiara, Vigouroux, C, Zurek, B, Rheinard, C, Andrés, D Gómez, Schon, K, Over, L, Brüggemann, N, Lohmann, K, Jennings, MJ, Synofzik, M, Riess, O, Yaou, R Ben, Evangelista, T, Ratnaike, T, Facer, V Bros, Gumus, G, Horvath, R, Chinnery, P, Laurie, S, Graessner, H, Robinson, P, Lochmuller, H, Beltran, S, Bonne, Gisèle, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Max Planck Institute for Biogeochemistry (MPI-BGC), Max-Planck-Gesellschaft, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,rare diseases ,Treatment delay - Abstract
International audience
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- 2022
24. Metagenomic insights into the changes of antibiotic resistance and pathogenicity factor pools upon thermophilic composting of human excreta
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Werner, K.A., Schneider, D., Poehlein, A., Diederich, N., Feyen, L., Axtmann, K., Hübner, Tobias, Brüggemann, N., Prost, K., Daniel, R., Grohmann, E., Werner, K.A., Schneider, D., Poehlein, A., Diederich, N., Feyen, L., Axtmann, K., Hübner, Tobias, Brüggemann, N., Prost, K., Daniel, R., and Grohmann, E.
- Abstract
In times of climate change, practicing a form of sustainable, climate-resilient and productive agriculture is of primordial importance. Compost could be one form of sustainable fertilizer, which is increasing humus, water holding capacity, and nutrient contents of soils. It could thereby strengthen agriculture toward the adverse effects of climate change, especially when additionally combined with biochar. To get access to sufficient amounts of suitable materials for composting, resources, which are currently treated as waste, such as human excreta, could be a promising option. However, the safety of the produced compost regarding human pathogens, pharmaceuticals (like antibiotics) and related resistance genes must be considered. In this context, we have investigated the effect of 140- and 154-days of thermophilic composting on the hygienization of human excreta and saw dust from dry toilets together with straw and green cuttings with and without addition of biochar. Compost samples were taken at the beginning and end of the composting process and metagenomic analysis was conducted to assess the fate of antibiotic resistance genes (ARGs) and pathogenicity factors of the microbial community over composting. Potential ARGs conferring resistance to major classes of antibiotics, such as beta-lactam antibiotics, vancomycin, the MLSB group, aminoglycosides, tetracyclines and quinolones were detected in all samples. However, relative abundance of ARGs decreased from the beginning to the end of composting. This trend was also found for genes encoding type III, type IV, and type VI secretion systems, that are involved in pathogenicity, protein effector transport into eukaryotic cells and horizontal gene transfer between bacteria, respectively. The results suggest that the occurrence of potentially pathogenic microorganisms harboring ARGs declines during thermophilic composting. Nevertheless, ARG levels did not decline below the detection limit of quantitative PCR (qPCR). Thr
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- 2022
25. Thermophilic composting of human feces: Development of bacterial community composition and antimicrobial resistance gene pool
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Werner, K.A., Poehlein, A., Schneider, D., El-Said, K., Wöhrmann, M., Linkert, I., Hübner, Tobias, Brüggemann, N., Prost, K., Daniel, R., Grohmann, E., Werner, K.A., Poehlein, A., Schneider, D., El-Said, K., Wöhrmann, M., Linkert, I., Hübner, Tobias, Brüggemann, N., Prost, K., Daniel, R., and Grohmann, E.
- Abstract
In times of climate change, practicing sustainable, climate-resilient, and productive agriculture is of primordial importance. Compost from different resources, now treated as wastes, could be one form of sustainable fertilizer creating a resilience of agriculture to the adverse effects of climate change. However, the safety of the produced compost regarding human pathogens, pharmaceuticals, and related resistance genes must be considered. We have assessed the effect of thermophilic composting of dry toilet contents, green cuttings, and straw, with and without biochar, on fecal indicators, the bacterial community, and antibiotic resistance genes (ARGs). Mature compost samples were analyzed regarding fecal indicator organisms, revealing low levels of Escherichia coli that are in line with German regulations for fertilizers. However, one finding of Salmonella spp. exceeded the threshold value. Cultivation of bacteria from the mature compost resulted in 200 isolates with 36.5% of biosafety level 2 (BSL-2) species. The majority is known as opportunistic pathogens that likewise occur in different environments. A quarter of the isolated BSL-2 strains exhibited multiresistance to different classes of antibiotics. Molecular analysis of total DNA before and after composting revealed changes in bacterial community composition and ARGs. 16S rRNA gene amplicon sequencing showed a decline of the two most abundant phyla Proteobacteria (start: 36–48%, end: 27–30%) and Firmicutes (start: 13–33%, end: 12–16%), whereas the abundance of Chloroflexi, Gemmatimonadetes, and Planctomycetes rose. Groups containing many human pathogens decreased during composting, like Pseudomonadales, Bacilli with Bacillus spp., or Staphylococcaceae and Enterococcaceae. Gene-specific PCR showed a decline in the number of detectable ARGs from 15 before to 8 after composting. The results reveal the importance of sufficiently high temperatures lasting for a sufficiently long period during the thermophilic pha
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- 2022
26. Non‐motor symptoms and quality of life in subjects with mild parkinsonian signs
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Prasuhn, J., Piskol, L., Vollstedt, E.‐J., Graf, J., Schmidt, A., Tadic, V., Tunc, S., Hampf, J., Warrlich, E., Bibergeil, C., Hagenah, J., Klein, C., Kasten, M., and Brüggemann, N.
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- 2017
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27. A terrestrial observatory approach to the integrated investigation of the effects of deforestation on water, energy, and matter fluxes
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Bogena, H. R., Bol, R., Borchard, N., Brüggemann, N., Diekkrüger, B., Drüe, C., Groh, J., Gottselig, N., Huisman, J. A., Lücke, A., Missong, A., Neuwirth, B., Pütz, T., Schmidt, M., Stockinger, M., Tappe, W., Weihermüller, L., Wiekenkamp, I., and Vereecken, H.
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- 2015
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28. Air‐Sea Interactions and Water Mass Transformation During a Katabatic Storm in the Irminger Sea
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Gutjahr, O., primary, Jungclaus, J. H., additional, Brüggemann, N., additional, Haak, H., additional, and Marotzke, J., additional
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- 2022
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29. Fluxes of nitrous oxide, methane and carbon dioxide during freezing–thawing cycles in an Inner Mongolian steppe
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Holst, J., Liu, C., Yao, Z., Brüggemann, N., Zheng, X., Giese, M., and Butterbach-Bahl, K.
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- 2008
30. Importance of point sources on regional nitrous oxide fluxes in semi-arid steppe of Inner Mongolia, China
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Holst, J., Liu, C., Yao, Z., Brüggemann, N., Zheng, X., Han, X., and Butterbach-Bahl, K.
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- 2007
31. The ICON Earth System Model Version 1.0 1
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Jungclaus, Johann, primary, Lorenz, S J, additional, Schmidt, H, additional, Brovkin, V, additional, Brüggemann, N, additional, Chegini, F, additional, Crüger, T, additional, De-Vrese, P, additional, Gayler, V, additional, Giorgetta, M A, additional, Gutjahr, O, additional, Haak, H, additional, Hagemann, S, additional, Hanke, M, additional, Ilyina, T, additional, Korn, P, additional, Kröger, J, additional, Linardakis, L, additional, Mehlmann, C, additional, Mikolajewicz, U, additional, Müller, W A, additional, Nabel, J E M S, additional, Notz, D, additional, Pohlmann, H, additional, Putrasahan, D A, additional, Raddatz, T, additional, Ramme, L, additional, Redler, R, additional, Reick, C H, additional, Riddick, T, additional, Sam, T, additional, Schneck, R, additional, Schnur, R, additional, Schupfner, M, additional, Von Storch, J.-S, additional, Wachsmann, F, additional, Wieners, K.-H, additional, Ziemen, F, additional, Stevens, B, additional, Marotzke, J, additional, and Claussen, M, additional
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- 2022
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32. Soil N and C trace gas fluxes and microbial soil N turnover in a sessile oak (Quercus petraea (Matt.) Liebl.) forest in Hungary
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Rosenkranz, P., Brüggemann, N., Papen, H., Xu, Z., Horváth, L., and Butterbach-Bahl, K.
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- 2006
33. A review of chemical reactions of nitrification intermediates and their role in nitrogen cycling and nitrogen trace gas formation in soil
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Heil, J., Vereecken, H., and Brüggemann, N.
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- 2016
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34. Biosphere–atmosphere exchange of reactive nitrogen and greenhouse gases at the NitroEurope core flux measurement sites: Measurement strategy and first data sets
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Skiba, U., Drewer, J., Tang, Y.S., van Dijk, N., Helfter, C., Nemitz, E., Famulari, D., Cape, J.N., Jones, S.K., Twigg, M., Pihlatie, M., Vesala, T., Larsen, K.S., Carter, M.S., Ambus, P., Ibrom, A., Beier, C., Hensen, A., Frumau, A., Erisman, J.W., Brüggemann, N., Gasche, R., Butterbach-Bahl, K., Neftel, A., Spirig, C., Horvath, L., Freibauer, A., Cellier, P., Laville, P., Loubet, B., Magliulo, E., Bertolini, T., Seufert, G., Andersson, M., Manca, G., Laurila, T., Aurela, M., Lohila, A., Zechmeister-Boltenstern, S., Kitzler, B., Schaufler, G., Siemens, J., Kindler, R., Flechard, C., and Sutton, M.A.
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- 2009
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35. Treatabolome database: towards enhancing Rare Diseases’ treatment visibility
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Hernandez-Ferrer, C., Corvó, A., Matalonga, L., Thompson, R., Carmody, L., Piscia, D., Macaya, A., Lochmuller, A., Manta, A., Fontaine, B., Vicart, S., Desaphy, J., Altamura, C., Wahbi, K., Sandre-Giovannoli, A., Vigouroux, C., Zurek, B., Rheinard, C., Gómez- Andrés, D., Schon, K., Over, L., Brüggemann, N., Lohmann, K., Jennings, M. J., Synofzik, M., Riess, O., Ben Yaou, R., Evangelista, T., Ratnaike, T., Bros-Facer, V., Gumus, G., Horvath, R., Chinnery, P., Graessner, H., Robinson, P., Atalaia, A., Lochmuller, H., Beltran, S., Gisèle Bonne, NOAA Air Resources Laboratory (ARL), National Oceanic and Atmospheric Administration (NOAA), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and CHU Saint-Antoine [AP-HP]
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[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,rare diseases ,Treatment delay - Abstract
International audience
- Published
- 2021
36. Denitrifying pathways dominate nitrous oxide emissions from managed grassland during drought and rewetting
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Harris, E., Diaz-Pines, E., Stoll, E., Schloter, M., Schulz, S., Duffner, C., Li, K., Moore, K. L., Ingrisch, J., Reinthaler, D., Zechmeister-Boltenstern, S., Glatzel, S., Brüggemann, N., and Bahn, M.
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Climatology ,Ecology ,parasitic diseases ,fungi ,Environmental Studies ,food and beverages ,SciAdv r-articles ,ddc:500 ,equipment and supplies ,Research Articles ,Research Article - Abstract
Isotopic measurements showed that N2O production during drought is unexpectedly dominated by denitrification of organic nitrogen., Nitrous oxide is a powerful greenhouse gas whose atmospheric growth rate has accelerated over the past decade. Most anthropogenic N2O emissions result from soil N fertilization, which is converted to N2O via oxic nitrification and anoxic denitrification pathways. Drought-affected soils are expected to be well oxygenated; however, using high-resolution isotopic measurements, we found that denitrifying pathways dominated N2O emissions during a severe drought applied to managed grassland. This was due to a reversible, drought-induced enrichment in nitrogen-bearing organic matter on soil microaggregates and suggested a strong role for chemo- or codenitrification. Throughout rewetting, denitrification dominated emissions, despite high variability in fluxes. Total N2O flux and denitrification contribution were significantly higher during rewetting than for control plots at the same soil moisture range. The observed feedbacks between precipitation changes induced by climate change and N2O emission pathways are sufficient to account for the accelerating N2O growth rate observed over the past decade.
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- 2021
37. Direct and Indirect Pathways of Convected Water Masses and Their impacts on the Overturning Dynamics of the Labrador Sea
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Georgiou, S. (author), Ypma, S.L. (author), Brüggemann, N. (author), Sayol España, J.M. (author), van der Boog, C.G. (author), Spence, P. (author), Pietrzak, J.D. (author), Katsman, C.A. (author), Georgiou, S. (author), Ypma, S.L. (author), Brüggemann, N. (author), Sayol España, J.M. (author), van der Boog, C.G. (author), Spence, P. (author), Pietrzak, J.D. (author), and Katsman, C.A. (author)
- Abstract
The dense waters formed by wintertime convection in the Labrador Sea play a key role in setting the properties of the deep Atlantic Ocean. To understand how variability in their production might affect the Atlantic Meridional Overturning Circulation (AMOC) variability, it is essential to determine pathways and associated timescales of their export. In this study, we analyze the trajectories of Argo floats and of Lagrangian particles launched at 53°N in the boundary current and traced backward in time in a high-resolution model, to identify and quantify the importance of upstream pathways. We find that 85% of the transport carried by the particles at 53°N originates from Cape Farewell, and it is split between a direct route that follows the boundary current and an indirect route involving boundary-interior exchanges. Although both routes contribute roughly equally to the maximum overturning, the indirect route governs its signal in denser layers. This indirect route has two branches: part of the convected water is exported rapidly on the Labrador side of the basin and part follows a longer route toward Greenland and is then carried with the boundary current. Export timescales of these two branches typically differ by 2.5 years. This study thus shows that boundary-interior exchanges are important for the pathways and the properties of water masses arriving at 53°N. It reveals a complex three-dimensional view of the convected water export, with implications for the arrival time of signals of variability therein at 53°N and thus for our understanding of the AMOC., Physical and Space Geodesy, Environmental Fluid Mechanics
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- 2021
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38. MOSES: A novel observation system to monitor dynamic events across earth compartments
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Weber, Ute, Attinger, Sabine, Baschek, B., Boike, J., Borchardt, Dietrich, Brix, H., Brüggemann, N., Bussmann, I., Dietrich, Peter, Fischer, P., Greinert, J., Hajnsek, I., Kamjunke, Norbert, Kerschke, D., Kiendler-Scharr, A., Körtzinger, A., Kottmeier, C., Merz, B., Merz, Ralf, Riese, M., Schloter, M., Schmid, H.P., Schnitzler, J.-P., Sachs, T., Schütze, Claudia, Tillmann, R., Vereecken, H., Wieser, A., Teutsch, Georg, Weber, Ute, Attinger, Sabine, Baschek, B., Boike, J., Borchardt, Dietrich, Brix, H., Brüggemann, N., Bussmann, I., Dietrich, Peter, Fischer, P., Greinert, J., Hajnsek, I., Kamjunke, Norbert, Kerschke, D., Kiendler-Scharr, A., Körtzinger, A., Kottmeier, C., Merz, B., Merz, Ralf, Riese, M., Schloter, M., Schmid, H.P., Schnitzler, J.-P., Sachs, T., Schütze, Claudia, Tillmann, R., Vereecken, H., Wieser, A., and Teutsch, Georg
- Abstract
MOSES (Modular Observation Solutions for Earth Systems) is a novel observation system that is specifically designed to unravel the impact of distinct, dynamic events on the long-term development of environmental systems. Hydro-meteorological extremes such as the recent European droughts or the floods of 2013 caused severe and lasting environmental damage. Modelling studies suggest that abrupt permafrost thaw events accelerate Arctic greenhouse gas emissions. Short-lived ocean eddies seem to comprise a significant share of the marine carbon uptake or release. Although there is increasing evidence that such dynamic events bear the potential for major environmental impacts, our knowledge on the processes they trigger is still very limited. MOSES aims at capturing such events, from their formation to their end, with high spatial and temporal resolution. As such, the observation system extends and complements existing national and international observation networks, which are mostly designed for long-term monitoring.Several German Helmholtz Association centers have developed this research facility as a mobile and modular “system of systems” to record energy, water, greenhouse gas and nutrient cycles on the land surface, in coastal regions, in the ocean, in polar regions, and in the atmosphere – but especially the interactions between the Earth compartments. During the implementation period (2017-2021), the measuring systems were put into operation and test campaigns were performed to establish event-driven campaign routines. With MOSES’ regular operation starting in 2022, the observation system will then be ready for cross-compartment and cross-discipline research on the environmental impacts of dynamic events.
- Published
- 2021
39. Neurobildgebung genetischer Aspekte der Parkinson-Krankheit
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Brüggemann, N., Vegt, J., Klein, C., and Siebner, H.R.
- Published
- 2010
- Full Text
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40. Zentrales Schlafapnoe-Syndrom bei multipler Sklerose
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Steffen, A., Hagenah, J., Wollenberg, B., and Brüggemann, N.
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- 2010
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41. Short and long-term outcome of chronic pallidal neurostimulation in DYT6 dystonia: 1243
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Brüggemann, N., Kühn, A., Schneider, S. A., Kamm, C., Wolters, A., Krause, P., Yu-Yan, P., Steigerwald, F., Wittstock, M., Tronnier, V., Zittel, S., Wächter, T., Krüger, R., Moro, E., Kupsch, A., Münchau, A., Lohmann, K., Volkmann, J., and Klein, C.
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- 2014
42. Deep brain stimulation improves motor symptoms and activities of daily living in X-linked dystonia-Parkinsonism (DYT3/Lubag): 1247
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Domingo, A., Brüggemann, N., Rosales, R., Jamora, R. D., Diesta, C., Teleg, R., Tadic, V., Zittel, S., Weissbach, A., Westenberger, A., Bäumer, T., Rasche, D., Aguilar, J., Münchau, A., Tronnier, V., Lee, L. V., and Klein, C.
- Published
- 2014
43. Motor cortex inhibition in dopa-responsive dystonia in different dopaminergic states: 544
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Weissbach, A., Brüggemann, N., Tadic, V., Klein, C., Münchau, A., and Bäumer, T.
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- 2014
44. Intracortical excitability in X-linked dystonia-Parkinsonism: 545
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Weissbach, A., Rosales, R., Zittel, S., Brandt, V., Brüggemann, N., Domingo, A., Jamora, R. D., Diesta, C., Rasche, D., Tronnier, V., Münte, T., Klein, C., Lee, L., Bäumer, T., and Münchau, A.
- Published
- 2014
45. Denitrifying pathways dominate nitrous oxide emissions from managed grassland during drought and rewetting
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Harris, E., Diaz-Pines, E., Stoll, E., Schloter, M., Schulz, S., Duffner, C., Li, K., Moore, K. L., Ingrisch, J., Reinthaler, D., Zechmeister-Boltenstern, S., Glatzel, S., Brüggemann, N., and Bahn, M.
- Subjects
ddc - Published
- 2020
46. Pathways of the water masses exiting the Labrador Sea: The importance of boundary–interior exchanges
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Georgiou, S. (author), Ypma, S.L. (author), Brüggemann, N. (author), Sayol España, J.M. (author), Pietrzak, J.D. (author), Katsman, C.A. (author), Georgiou, S. (author), Ypma, S.L. (author), Brüggemann, N. (author), Sayol España, J.M. (author), Pietrzak, J.D. (author), and Katsman, C.A. (author)
- Abstract
The water masses exiting the Labrador Sea, and in particular the dense water mass formed by convection (i.e. Labrador Sea Water, LSW), are important components of the Atlantic Meridional Overturning Circulation (AMOC). Several studies have questioned the connection of the LSW production to the AMOC variability. This is partly due to the limited understanding of how this locally formed water mass leaves the interior of the Labrador Sea. In this study, the pathways and the timescales of the water masses exiting the Labrador Sea via the boundary current are investigated by Lagrangian particle tracking. This method is applied to the output of a strongly-eddying idealized model that is capable of representing the essential physical processes involved in the cycle of convection and restratification in the Labrador Sea. The Lagrangian trajectories reveal that prior to exiting the domain the water masses follow either a fast route within the boundary current or a slower route that involves boundary current-interior exchanges. The densest water masses exiting the Labrador Sea stem from this slow route, where particles experience strong water mass transformation while in the interior. In contrast, the particles that follow the fast route experience water mass transformation in the boundary current at the western side of the domain only, yielding a lighter product. Although both routes carry roughly the same transport, we show that 60% of the overturning in density space is associated with the volume transport carried by particles that follow the slow route. This study further highlights that the export of dense water masses, which is governed by the eddy activity in the basin, yields export timescales that are usually longer than a year. This underlines the necessity of resolving the mesoscale features required to capture the interior–boundary current exchange in order to correctly represent the export of the LSW., Environmental Fluid Mechanics
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- 2020
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47. Soil research challenges in response to emerging agricultural soil management practices
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Sparks, D.L., Techen, A.-K., Helming, K., Brüggemann, N., Veldkamp, E., Reinhold-Hurek, B., Lorenz, M., Bartke, Stephan, Heinrich, U., Amelung, W., Augustin, K., Boy, J., Corre, M., Duttmann, R., Gebbers, R., Gentsch, N., Grosch, R., Guggenberger, G., Kern, J., Kiese, R., Kuhwald, M., Leinweber, P., Schloter, M., Wiesmeier, M., Winkelmann, T., Vogel, Hans-Jörg, Sparks, D.L., Techen, A.-K., Helming, K., Brüggemann, N., Veldkamp, E., Reinhold-Hurek, B., Lorenz, M., Bartke, Stephan, Heinrich, U., Amelung, W., Augustin, K., Boy, J., Corre, M., Duttmann, R., Gebbers, R., Gentsch, N., Grosch, R., Guggenberger, G., Kern, J., Kiese, R., Kuhwald, M., Leinweber, P., Schloter, M., Wiesmeier, M., Winkelmann, T., and Vogel, Hans-Jörg
- Abstract
Agricultural management is a key force affecting soil processes and functions. Triggered by biophysical constraints as well as rapid structural and technological developments, new management practices are emerging with largely unknown impacts on soil processes and functions. This impedes assessments of the potential of such emerging practices for sustainable intensification, a paradigm coined to address the growing demand for food and nonfood products. In terms of soil management, sustainable intensification means that soil productivity is increased while other soil functions and services, such as carbon storage and habitat for organisms, are simultaneously maintained or even improved. In this paper we provide an overview of research challenges to better understand how emerging soil management practices affect soil processes and functions.We distinguish four categories of soil management practices: spatial arrangements of cropping systems, crops and rotations, mechanical pressures, and inputs into the soil. Key research needs identified for each include nutrient efficiency in agroforestry versus conventional cropping systems, soil-rhizosphere microbiome elucidation to understand the interacting roles of crops and rotations, the effects of soil compaction on soil–plant–atmosphere interactions, and the ecotoxicity of plastics, pharmaceuticals and other pollutants that are introduced into the soil. We establish an interdisciplinary, systemic approach to soil science and include cross-cutting research activities related to process modeling, data management, stakeholder interaction, sustainability assessment and governance. The identification of soil research challenges from the perspective of agricultural management facilitates cooperation between different scientific disciplines in the field of sustainable agricultural production.
- Published
- 2020
48. Ecotrons: Powerful and versatile ecosystem analysers for ecology, agronomy and environmental science
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Roy, J., Rineau, F., De Boeck, H.J., Nijs, I., Pütz, T., Abiven, S., Arnone III, J.A., Barton, C.V.M., Beenaerts, N., Brüggemann, N., Dainese, M., Domisch, T., Eisenhauer, N., Garré, S., Gebler, A., Ghirardo, A., Jasoni, R.L., Kowalchuk, G., Landais, D., Larsen, S.H., Leemans, V., Le Galliard, J.-F., Longdoz, B., Massol, F., Mikkelsen, T.N., Niedrist, G., Piel, C., Ravel, O., Sauze, J., Schmidt, Anja, Schnitzler, J.-P., Teixeira, L.H., Tjoelker, M.G., Weisser, W.W., Winkler, J.B., Milcu, A., Roy, J., Rineau, F., De Boeck, H.J., Nijs, I., Pütz, T., Abiven, S., Arnone III, J.A., Barton, C.V.M., Beenaerts, N., Brüggemann, N., Dainese, M., Domisch, T., Eisenhauer, N., Garré, S., Gebler, A., Ghirardo, A., Jasoni, R.L., Kowalchuk, G., Landais, D., Larsen, S.H., Leemans, V., Le Galliard, J.-F., Longdoz, B., Massol, F., Mikkelsen, T.N., Niedrist, G., Piel, C., Ravel, O., Sauze, J., Schmidt, Anja, Schnitzler, J.-P., Teixeira, L.H., Tjoelker, M.G., Weisser, W.W., Winkler, J.B., and Milcu, A.
- Abstract
Ecosystems integrity and services are threatened by anthropogenic global changes. Mitigating and adapting to these changes requires knowledge of ecosystem functioning in the expected novel environments, informed in large part through experimentation and modelling. This paper describes 13 advanced controlled environment facilities for experimental ecosystem studies, herein termed ecotrons, open to the international community. Ecotrons enable simulation of a wide range of natural environmental conditions in replicated and independent experimental units whilst simultaneously measuring various ecosystem processes. This capacity to realistically control ecosystem environments is used to emulate a variety of climatic scenarios and soil conditions, in natural sunlight or through broad spectrum lighting. The use of large ecosystem samples, intact or reconstructed, minimises border effects and increases biological and physical complexity. Measurements of concentrations of greenhouse trace gases as well as their net exchange between the ecosystem and the atmosphere are performed in most ecotrons, often quasi continuously. The flow of matter is often tracked with the use of stable isotope tracers of carbon and other elements. Equipment is available for measurements of soil water status as well as root and canopy growth. The experiments run so far emphasize the diversity of the hosted research. Half of them concern global changes, often with a manipulation of more than one driver. About a quarter deal with the impact of biodiversity loss on ecosystem functioning and one quarter with ecosystem or plant physiology. We discuss how the methodology for environmental simulation and process measurements, especially in soil, can be improved and stress the need to establish stronger links with modelling in future projects. These developments will enable further improvements in mechanistic understanding and predictive capacity of ecotron research which will play, in complementarity with
- Published
- 2020
49. Altered energy partitioning across terrestrial ecosystems in the European drought year 2018
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Graf, A., Klosterhalfen, A., Arriga, N., Bernhofer, C., Bogena, H., Bornet, F., Brüggemann, N., Brümmer, C., Buchmann, N., Chi, J., Chipeaux, C., Cremonese, E., Cuntz, M., Dušek, J., El-Madany, T.S., Fares, S., Fischer, M., Foltýnová, L., Gharun, M., Ghiasi, S., Gielen, B., Gottschalk, P., Grünwald, T., Heinemann, G., Heinesch, B., Heliasz, M., Holst, J., Hörtnagl, L., Ibrom, A., Ingwersen, J., Jurasinski, G., Klatt, J., Knohl, A., Koebsch, F., Konopka, J., Korkiakoski, M., Kowalska, N., Kremer, P., Kruijt, B., Lafont, S., Léonard, J., de Ligne, A., Longdoz, B., Loustau, D., Magliulo, V., Mammarella, I., Manca, G., Mauder, M., Migliavacca, M., Mölder, M., Neirynck, J., Ney, P., Nilsson, M., Paul-Limoges, E., Peichl, M., Pitacco, A., Poyda, A., Rebmann, Corinna, Roland, M., Sachs, T., Schmidt, M., Schrader, F., Siebicke, L., Šigut, L., Tuittila, E.-S., Varlagin, A., Vendrame, N., Vincke, C., Völksch, I., Weber, S., Wille, C., Wizemann, H.-D., Zeeman, M., Vereecken, H., Graf, A., Klosterhalfen, A., Arriga, N., Bernhofer, C., Bogena, H., Bornet, F., Brüggemann, N., Brümmer, C., Buchmann, N., Chi, J., Chipeaux, C., Cremonese, E., Cuntz, M., Dušek, J., El-Madany, T.S., Fares, S., Fischer, M., Foltýnová, L., Gharun, M., Ghiasi, S., Gielen, B., Gottschalk, P., Grünwald, T., Heinemann, G., Heinesch, B., Heliasz, M., Holst, J., Hörtnagl, L., Ibrom, A., Ingwersen, J., Jurasinski, G., Klatt, J., Knohl, A., Koebsch, F., Konopka, J., Korkiakoski, M., Kowalska, N., Kremer, P., Kruijt, B., Lafont, S., Léonard, J., de Ligne, A., Longdoz, B., Loustau, D., Magliulo, V., Mammarella, I., Manca, G., Mauder, M., Migliavacca, M., Mölder, M., Neirynck, J., Ney, P., Nilsson, M., Paul-Limoges, E., Peichl, M., Pitacco, A., Poyda, A., Rebmann, Corinna, Roland, M., Sachs, T., Schmidt, M., Schrader, F., Siebicke, L., Šigut, L., Tuittila, E.-S., Varlagin, A., Vendrame, N., Vincke, C., Völksch, I., Weber, S., Wille, C., Wizemann, H.-D., Zeeman, M., and Vereecken, H.
- Abstract
Drought and heat events, such as the 2018 European drought, interact with the exchange of energy between the land surface and the atmosphere, potentially affecting albedo, sensible and latent heat fluxes, as well as CO2 exchange. Each of these quantities may aggravate or mitigate the drought, heat, their side effects on productivity, water scarcity and global warming. We used measurements of 56 eddy covariance sites across Europe to examine the response of fluxes to extreme drought prevailing most of the year 2018 and how the response differed across various ecosystem types (forests, grasslands, croplands and peatlands). Each component of the surface radiation and energy balance observed in 2018 was compared to available data per site during a reference period 2004–2017. Based on anomalies in precipitation and reference evapotranspiration, we classified 46 sites as drought affected. These received on average 9% more solar radiation and released 32% more sensible heat to the atmosphere compared to the mean of the reference period. In general, drought decreased net CO2 uptake by 17.8%, but did not significantly change net evapotranspiration. The response of these fluxes differed characteristically between ecosystems; in particular, the general increase in the evaporative index was strongest in peatlands and weakest in croplands.
- Published
- 2020
50. Denitrifying pathways dominate nitrous oxide emissions from managed grassland during drought and rewetting
- Author
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Harris, E., primary, Diaz-Pines, E., additional, Stoll, E., additional, Schloter, M., additional, Schulz, S., additional, Duffner, C., additional, Li, K., additional, Moore, K. L., additional, Ingrisch, J., additional, Reinthaler, D., additional, Zechmeister-Boltenstern, S., additional, Glatzel, S., additional, Brüggemann, N., additional, and Bahn, M., additional
- Published
- 2021
- Full Text
- View/download PDF
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