المؤلفون: Wever, Eric, Student, Mulder, Fenno, Student, Heijne, Vera, Begeleider

المساهمون: Social Work [vanaf 1 sept. 2017 ...], Hanze@@@Academie voor Sociale Studies

مصطلحات موضوعية: arbeidsgehandicapten, reïntegratie, duurzaamheid

الوصول الحر: https://surfsharekit.nl/public/4772af29-c63f-4c4c-9a3a-b3c71a449520Test
https://surfsharekit.nl/objectstore/fb24fcef-f75a-40ea-9064-38dfb785d862Test

الإتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=sharekit_hhs:oai:surfsharekit.nl:4772af29-c63f-4c4c-9a3a-b3c71a449520Test

المؤلفون: Christen, Matthias, Oevermann, Anna, Rupp, Stefan, Vaz, Frédéric M., Wever, Eric J.M., Braus, Barbara K., Jagannathan, Vidhya, Kehl, Alexandra, Hytönen, Marjo K., Lohi, Hannes, Leeb, Tosso

المساهمون: Medicum, Veterinary Biosciences, Department of Medical and Clinical Genetics, Helsinki One Health (HOH), Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics

مصطلحات موضوعية: Animal model, Canis lupus familiaris, Inborn error of metabolism, Kennedy pathway, Neurology, Ophthalmology, Precision medicine, Genetics, developmental biology, physiology, Veterinary science

وصف الملف: application/pdf

العلاقة: This research project was supported by a grant from the Gesellschaft zur Förderung kynologischer Forschung e.V. (GKF), private donations from the Saarlooswolfhond-Club Deutschland e.V. and a private crowdfunding initiative supporting clinical and pathological examinations. HL was supported by HiLIFE and Jane and Aatos Erkko Foundation .; Christen , M , Oevermann , A , Rupp , S , Vaz , F M , Wever , E J M , Braus , B K , Jagannathan , V , Kehl , A , Hytönen , M K , Lohi , H & Leeb , T 2024 , ' PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration ' , Molecular Genetics and Metabolism , vol. 141 , no. 3 , 108149 . https://doi.org/10.1016/j.ymgme.2024.108149Test; ORCID: /0000-0003-1976-5874/work/153479360; http://hdl.handle.net/10138/571225Test; c04c5492-41c9-48ea-bb75-38a649a6bde0; 85183302396; 001175365800001

الإتاحة: http://hdl.handle.net/10138/571225Test

المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, Vaz, Frédéric M

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Spastic Paraplegia, Hereditary, Ethers, Aldehyde Oxidoreductases, Lipids, Phenotype, Neurosciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Neurological, Genetics & Heredity, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/434856qxTest

المؤلفون: Lackner, Katharina, Sailer, Sabrina, van Klinken, Jan-Bert, Wever, Eric, Pras-Raves, Mia L., Dane, Adrie D., Honsho, Masanori, Abe, Yuichi, Keller, Markus A., Golderer, Georg, Werner-Felmayer, Gabriele, Fujiki, Yukio, Vaz, Fr?d?ric M., Werner, Ernst R., Watschinger, Katrin

المصدر: Lackner , K , Sailer , S , van Klinken , J-B , Wever , E , Pras-Raves , M L , Dane , A D , Honsho , M , Abe , Y , Keller , M A , Golderer , G , Werner-Felmayer , G , Fujiki , Y , Vaz , F M , Werner , E R & Watschinger , K 2023 , ' Alterations in ether lipid metabolism and the consequences for the mouse lipidome ' , Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids , vol. 1868 , no. 4 ....

العلاقة: https://research.vumc.nl/en/publications/8a84d50f-69c9-44f1-a571-5157841df3f0Test

الإتاحة: https://doi.org/10.1016/j.bbalip.2023.159285Test
https://research.vumc.nl/en/publications/8a84d50f-69c9-44f1-a571-5157841df3f0Test
http://www.scopus.com/inward/record.url?scp=85147118842&partnerID=8YFLogxKTest

المؤلفون: Swinkels, Daniëlle, Kocherlakota, Sai, Das, Yannick, Dane, Adriaan D., Wever, Eric J.M., Vaz, Frédéric M., Bazan, Nicolas G., Van Veldhoven, Paul P., Baes, Myriam

المصدر: School of Medicine Faculty Publications

مصطلحات موضوعية: DHA, neuroprotection, peroxisome, RPE, VLC-PUFA, Eye Diseases, Medical Neurobiology, Sense Organs

وصف الملف: application/pdf

العلاقة: https://digitalscholar.lsuhsc.edu/som_facpubs/1619Test; https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/2619/viewcontent/DHAShortageCausesTheEarlyDegenerationOfPhotoreceptors_2023.pdfTest

الإتاحة: https://doi.org/10.1167/iovs.64.14.10Test
https://digitalscholar.lsuhsc.edu/som_facpubs/1619Test
https://digitalscholar.lsuhsc.edu/context/som_facpubs/article/2619/viewcontent/DHAShortageCausesTheEarlyDegenerationOfPhotoreceptors_2023.pdfTest

المؤلفون: Smits, Myrthe A J, Schomakers, Bauke V, van Weeghel, Michel, Wever, Eric J M, Wüst, Rob C I, Dijk, Frederike, Janssens, Georges E, Goddijn, Mariëtte, Mastenbroek, Sebastiaan, Houtkooper, Riekelt H, Hamer, Geert

المساهمون: Amsterdam UMC

المصدر: Human Reproduction ; volume 38, issue 11, page 2208-2220 ; ISSN 0268-1161 1460-2350

الإتاحة: https://doi.org/10.1093/humrep/dead177Test
https://academic.oup.com/humrep/article-pdf/38/11/2208/52727047/dead177.pdfTest

المؤلفون: Janssens, Georges E., Molenaars, Marte, Herzog, Katharina, Grevendonk, Lotte, Remie, Carlijn M. E., Vervaart, Martin A. T., Elfrink, Hyung L., Wever, Eric J. M., Schomakers, Bauke V., Denis, Simone W., Waterham, Hans R., Pras-Raves, Mia L., van Weeghel, Michel, van Kampen, Antoine H. C., Tammaro, Alessandra, Butter, Loes M., van der Rijt, Sanne, Florquin, Sandrine, Jongejan, Aldo, Moerland, Perry D., Hoeks, Joris, Schrauwen, Patrick, Vaz, Frédéric M., Houtkooper, Riekelt H.

المصدر: Janssens , G E , Molenaars , M , Herzog , K , Grevendonk , L , Remie , C M E , Vervaart , M A T , Elfrink , H L , Wever , E J M , Schomakers , B V , Denis , S W , Waterham , H R , Pras-Raves , M L , van Weeghel , M , van Kampen , A H C , Tammaro , A , Butter , L M , van der Rijt , S , Florquin , S , Jongejan , A , Moerland , P D ....

العلاقة: https://research.vumc.nl/en/publications/db071c27-43bc-41b9-89cb-248ab988c935Test

الإتاحة: https://doi.org/10.1038/s43587-024-00595-2Test
https://research.vumc.nl/en/publications/db071c27-43bc-41b9-89cb-248ab988c935Test
http://www.scopus.com/inward/record.url?scp=85190143485&partnerID=8YFLogxKTest

المؤلفون: Jaspers, Yorrick R J, Meyer, Sven W, Pras-Raves, Mia L, Dijkstra, Inge M E, Wever, Eric J M, Dane, Adrie D, van Klinken, Jan-Bert, Salomons, Gajja S, Houtkooper, Riekelt H, Engelen, Marc, Kemp, Stephan, Van Weeghel, Michel, Vaz, Frédéric M

المصدر: J Lipid Res ; ISSN:1539-7262 ; Volume:65 ; Issue:6

مصطلحات موضوعية: 4D-Lipidomics, adrenoleukodystrophy, parallel accumulation serial fragmentation, trapped ion mobility spectrometry, very-long-chain fatty acids

العلاقة: https://doi.org/10.1016/j.jlr.2024.100567Test; https://pubmed.ncbi.nlm.nih.gov/38795862Test

الإتاحة: https://doi.org/10.1016/j.jlr.2024.100567Test
https://pubmed.ncbi.nlm.nih.gov/38795862Test

المؤلفون: Sailer, Sabrina, Lackner, Katharina, Pras-Raves, Mia L., Wever, Eric J. M., van Klinken, Jan B., Dane, Adriaan D., Geley, Stephan, Koch, Jakob, Golderer, Georg, Werner-Felmayer, Gabriele, Keller, Markus A., Zwerschke, Werner, Vaz, Frederic M., Werner, Ernst R., Watschinger, Katrin

المصدر: Sailer , S , Lackner , K , Pras-Raves , M L , Wever , E J M , van Klinken , J B , Dane , A D , Geley , S , Koch , J , Golderer , G , Werner-Felmayer , G , Keller , M A , Zwerschke , W , Vaz , F M , Werner , E R & Watschinger , K 2022 , ' Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown ' , Journal of Lipid Research , vol. 63 , no. 6 , 100222 ....

العلاقة: https://research.vumc.nl/en/publications/6a487f6d-b14c-49bd-868e-fc19b2a061f3Test

الإتاحة: https://doi.org/10.1016/j.jlr.2022.100222Test
https://research.vumc.nl/en/publications/6a487f6d-b14c-49bd-868e-fc19b2a061f3Test
http://www.scopus.com/inward/record.url?scp=85131948350&partnerID=8YFLogxKTest

المؤلفون: Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês, Deshpande, Charu, Chitre, Manali, Mehta, Sarju, Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten, Chao, Katherine, Cai, Chunyu, Iannaccone, Susan, Dean, Andrew, Mcfarland, Robert, Vaz, Frédéric, Delahodde, Agnès, Taylor, Robert, Rötig, Agnès

المساهمون: Newcastle University Newcastle, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Institut des Sciences Analytiques (ISA), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), King‘s College London, Guy's and St Thomas NHS Foundation Trust London, Cambridge University Hospitals - NHS (CUH), University of Cambridge UK (CAM), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Amsterdam Public Health Research Institute The Netherlands, Amsterdam UMC - Amsterdam University Medical Center, Laboratoire sur les interactions Epithéliums Neurones (LIEN), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), National Institute of Neurological Disorders and Stroke Bethesda (NINDS), National Institutes of Health Bethesda, MD, USA (NIH), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, University of Texas Southwestern Medical Center Dallas, Newcastle Upon Tyne Hospitals NHS Foundation Trust, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-15-RAR3-0012,GENOMIT,Mitochondrial Disorders- from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options(2015), ANR-16-CE16-0025,MitoMotor,Mutations du gène CHCHD10: comment un déficit mitochondrial conduit à la mort des motoneurones(2016)

المصدر: EISSN: 2666-2477 ; Human Genetics and Genomics Advances ; https://hal.science/hal-03675447Test ; Human Genetics and Genomics Advances, 2022, 3 (2), pp.100097. ⟨10.1016/j.xhgg.2022.100097⟩ ; https://www.sciencedirect.com/science/article/pii/S2666247722000136?via%3DihubTest

مصطلحات موضوعية: OXPHOS defect, WES/WGS, cardiolipin, mitochondria, mitochondrial disease, mitochondrial phospholipid, [CHIM.ANAL]Chemical Sciences/Analytical chemistry, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [CHIM]Chemical Sciences

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35321494; hal-03675447; https://hal.science/hal-03675447Test; https://hal.science/hal-03675447/documentTest; https://hal.science/hal-03675447/file/A1608201-6CCE-4BB0-A991-F48AA09F9EF7.pdf%26pub_id%3D281161Test; PUBMED: 35321494; PUBMEDCENTRAL: PMC8935507

الإتاحة: https://doi.org/10.1016/j.xhgg.2022.100097Test
https://hal.science/hal-03675447Test
https://hal.science/hal-03675447/documentTest
https://hal.science/hal-03675447/file/A1608201-6CCE-4BB0-A991-F48AA09F9EF7.pdf%26pub_id%3D281161Test