المؤلفون: Lischka, Annette, Eggermann, Katja, Record, Christopher J, Dohrn, Maike F, Laššuthová, Petra, Kraft, Florian, Begemann, Matthias, Dey, Daniela, Eggermann, Thomas, Beijer, Danique, Šoukalová, Jana, Laura, Matilde, Rossor, Alexander M, Mazanec, Radim, Van Lent, Jonas, Tomaselli, Pedro J, Ungelenk, Martin, Debus, Karlien Y, Feely, Shawna M E, Gläser, Dieter, Jagadeesh, Sujatha, Martin, Madelena, Govindaraj, Geeta M, Singhi, Pratibha, Baineni, Revanth, Biswal, Niranjan, Ibarra-Ramírez, Marisol, Bonduelle, Maryse, Gess, Burkhard, Hornemann, T

المصدر: Lischka, Annette; Eggermann, Katja; Record, Christopher J; Dohrn, Maike F; Laššuthová, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Šoukalová, Jana; Laura, Matilde; Rossor, Alexander M; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J; Ungelenk, Martin; Debus, Karlien Y; Feely, Shawna M E; Gläser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramírez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Hornemann, T; et al (2023). Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies. Brain: a journal of neurology, 146(12):4880-4890.

مصطلحات موضوعية: Institute of Clinical Chemistry, 540 Chemistry, 610 Medicine & health, Neurology (clinical)

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdfTest; info:pmid/37769650; urn:issn:0006-8950

الإتاحة: https://doi.org/10.5167/uzh-25378810.1093/brain/awad328Test
https://www.zora.uzh.ch/id/eprint/253788Test/
https://www.zora.uzh.ch/id/eprint/253788/6/Thorsten5_2024.pdfTest

المؤلفون: Kumabe, Y, Kalbas, Y, Halvachizadeh, S, Hornemann, T, Pfeifer, R, Cinelli, P, Pape, HC

المصدر: Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2021); 20211026-20211029; Berlin; DOCAB40-1070 /20211026/

مصطلحات موضوعية: lipidomics, lipid, polytrauma, trauma, ddc: 610

العلاقة: http://dx.doi.org/10.3205/21dkou215Test; http://nbn-resolving.de/urn:nbn:de:0183-21dkou2151Test; http://www.egms.de/en/meetings/dkou2021/21dkou215.shtmlTest

الإتاحة: https://doi.org/10.3205/21dkou215Test
http://nbn-resolving.de/urn:nbn:de:0183-21dkou2151Test
http://www.egms.de/en/meetings/dkou2021/21dkou215.shtmlTest

المؤلفون: Kalbas, Y, Yohei, K, Halvachizadeh, S, Hornemann, T, Cinelli, P, Pfeifer, R, Pape, HC

المصدر: Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2021); 20211026-20211029; Berlin; DOCAB57-1410 /20211026/

مصطلحات موضوعية: Lipidomics, Fettembolie, RIA, Polytrauma, ddc: 610

العلاقة: http://dx.doi.org/10.3205/21dkou353Test; http://nbn-resolving.de/urn:nbn:de:0183-21dkou3536Test; http://www.egms.de/en/meetings/dkou2021/21dkou353.shtmlTest

الإتاحة: https://doi.org/10.3205/21dkou353Test
http://nbn-resolving.de/urn:nbn:de:0183-21dkou3536Test
http://www.egms.de/en/meetings/dkou2021/21dkou353.shtmlTest

المؤلفون: Grimm, C, Storti, F, Hornemann, T, den Hollander, A, Maugeais, C

المصدر: 7th International Symposium on AMD: Age-related Macular Degeneration - Understanding Pathogenetic Mechanisms of Disease; 20190920-20190921; Baden-Baden; DOC19amd21 /20200205/

مصطلحات موضوعية: ddc: 610

العلاقة: http://dx.doi.org/10.3205/19amd21Test; http://nbn-resolving.de/urn:nbn:de:0183-19amd212Test; http://www.egms.de/en/meetings/amd2019/19amd21.shtmlTest

الإتاحة: https://doi.org/10.3205/19amd21Test
http://nbn-resolving.de/urn:nbn:de:0183-19amd212Test
http://www.egms.de/en/meetings/amd2019/19amd21.shtmlTest

المؤلفون: Weyler, Jonas, Verrijken, An, Hornemann, T., Vonghia, Luisa, Dirinck, Eveline, von Eckardstein, A., Vanwolleghem, Thomas, Michielsen, Peter, Peiffer, F., Driessen, Ann, Hubens, Guy, Staels, B., Francque, Sven, Van Gaal, Luc

المصدر: 0940-5429 ; Acta diabetologica

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000583366000001

الإتاحة: https://doi.org/10.1007/S00592-020-01612-7Test
https://hdl.handle.net/10067/1732640151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:3292Test

المؤلفون: Clark, AJ, Kugathasan, U, Baskozos, G, Priestman, DA, Fugger, N, Lone, MA, Othman, A, Chu, KH, Blesneac, I, Wilson, ER, Laurà, M, Kalmar, B, Greensmith, L, Hornemann, T, Platt, FM, Reilly, MM, Bennett, DL

المصدر: Cell Reports Medicine , 2 (7) , Article 10034. (2021)

مصطلحات موضوعية: hereditary sensory neuropathy type 1, HSN1, serine palmitoyltransferase, SPT, serine palmitoyltransferase long-chain base subunit 1, SPTLC1, 1-deoxySLBs, DSBs, sphingolipid, ganglioside, sensory neuron, myelin, axon, l-serine

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10132384/1/1-s2.0-S2666379121001944-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10132384Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10132384/1/1-s2.0-S2666379121001944-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10132384Test/

المؤلفون: Lone, M., Hornemann, T.

المصدر: Neuromuscular Disorders ; volume 31, page S123 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.269Test
https://api.elsevier.com/content/article/PII:S0960896621004569?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621004569?httpAccept=text/plainTest

المؤلفون: Mohassel, P., Donkervoort, S., Lone, M., Nalls, M., Gable, K., Gupta, S., Foley, A., Hornemann, T., Dunn, T., Bönnemann, C.

المصدر: Neuromuscular Disorders ; volume 31, page S160 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.388Test
https://api.elsevier.com/content/article/PII:S0960896621005757?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621005757?httpAccept=text/plainTest

المؤلفون: Weyler, J., Verrijken, A., Hornemann, T., Vonghia, L., Dirinck, E., von Eckardstein, A., Vanwolleghem, T., Michielsen, P., Peiffer, F., Driessen, A., Hubens, G., Staels, B., Francque, S., van Gaal, L.

المساهمون: Antwerp University Hospital Edegem (UZA), University of Antwerp (UA), Universität Zürich Zürich = University of Zurich (UZH), Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires - U1011 (RNMCD), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), European Project: 32591,HEPADIP, European Project: 305707,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,RESOLVE(2013), European Project: 694717,H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC) ,ImmunoBile(2016)

المصدر: ISSN: 0940-5429.

مصطلحات موضوعية: 1-Deoxy-sphingolipids, Metabolic syndrome, Non-alcoholic fatty liver disease, Type 2 diabetes mellitus, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33084982; info:eu-repo/grantAgreement//32591/EU/Hepatic and adipose tissue and functions in the metabolic syndrome/HEPADIP; info:eu-repo/grantAgreement/EC/FP7/305707/EU/A systems biology approach to RESOLVE the molecular pathology of two hallmarks of patients with metabolic syndrome and its co-morbidities; hypertriglyceridemia and low HDL-cholesterol/RESOLVE; info:eu-repo/grantAgreement//694717/EU/Bile acid, immune-metabolism, lipid and glucose homeostasis/ImmunoBile; inserm-03180573; https://inserm.hal.science/inserm-03180573Test; https://inserm.hal.science/inserm-03180573/documentTest; https://inserm.hal.science/inserm-03180573/file/Weyler%20NAFLD_Acta%20Diabetologica.pdfTest; PUBMED: 33084982

الإتاحة: https://doi.org/10.1007/s00592-020-01612-7Test
https://inserm.hal.science/inserm-03180573Test
https://inserm.hal.science/inserm-03180573/documentTest
https://inserm.hal.science/inserm-03180573/file/Weyler%20NAFLD_Acta%20Diabetologica.pdfTest

المؤلفون: Karsai, G., Lone, M., Kutalik, Z., Brenna, J.T., Li, H., Pan, D., von Eckardstein, A., Hornemann, T.

المصدر: The Journal of biological chemistry, vol. 295, no. 7, pp. 1889-1897

مصطلحات موضوعية: GWAS, ceramide, fatty acid desaturase 3 (FADS3), genomics, human genetics, lipid metabolism, molecular cell biology, single-nucleotide polymorphism (SNP), sphingolipid

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31862735; info:eu-repo/semantics/altIdentifier/eissn/1083-351X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4F9B98961C359; https://serval.unil.ch/notice/serval:BIB_4F9B98961C35Test; urn:issn:0021-9258; https://serval.unil.ch/resource/serval:BIB_4F9B98961C35.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4F9B98961C359Test

الإتاحة: https://doi.org/10.1074/jbc.AC119.011883Test
https://serval.unil.ch/notice/serval:BIB_4F9B98961C35Test
https://serval.unil.ch/resource/serval:BIB_4F9B98961C35.P001/REF.pdfTest
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