المؤلفون: Crowther, Lisa M, Poms, Martin, Zandl‐Lang, Martina, Abela, Lucia, Hartmann, Hans, Seiler, Michelle, Mathis, Déborah, Plecko, Barbara

المصدر: Crowther, Lisa M; Poms, Martin; Zandl‐Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara (2023). Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. Journal of Inherited Metabolic Disease, 46(1):129-142.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/223724/1/J_of_Inher_Metab_Disea___2022___Crowther___Metabolomics_analysis_of_antiquitin_deficiency_in_cultured_human_cells_and.pdf; info:pmid/36225138; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/223724/
https://www.zora.uzh.ch/id/eprint/223724/1/J_of_Inher_Metab_Disea___2022___Crowther___Metabolomics_analysis_of_antiquitin_deficiency_in_cultured_human_cells_and.pdf
https://doi.org/10.1002/jimd.12569

المؤلفون: Luebben, Anna, Bender, Daniel, Becker, Stefan, Crowther, Lisa M, Erven, Ilka, Hofmann, Kai, Steinfeld, Robert

المصدر: Luebben, Anna; Bender, Daniel; Becker, Stefan; Crowther, Lisa M; Erven, Ilka; Hofmann, Kai; Steinfeld, Robert (2022). Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration. Science Advances, 8(15):eabj8633.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/218211/1/sciadv.abj8633.pdf; info:pmid/35427157; urn:issn:2375-2548

الاتاحة: https://www.zora.uzh.ch/id/eprint/218211/
https://www.zora.uzh.ch/id/eprint/218211/1/sciadv.abj8633.pdf
https://doi.org/10.1126/sciadv.abj8633

المؤلفون: Crowther, Lisa M, Mathis, Déborah, Poms, Martin, Plecko, Barbara

المصدر: Crowther, Lisa M; Mathis, Déborah; Poms, Martin; Plecko, Barbara (2019). New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency. Journal of Inherited Metabolic Disease, 42(4):620-628.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Genetics(clinical), Genetics

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/181856/1/Crowther_et_al-2019-Journal_of_Inherited_Metabolic_Disease.pdf; info:pmid/30767241; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/181856/
https://doi.org/10.1002/jimd.12076

المؤلفون: Papuc, Sorina M, Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L, Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M, Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

المصدر: Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European Journal of Human Genetics, 27(3):408-421.

مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/161256/1/s41431-018-0299-8.pdf; info:pmid/30552426; urn:issn:1018-4813

الاتاحة: https://www.zora.uzh.ch/id/eprint/161256/

المؤلفون: Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara R., Rauch, Anita

المصدر: European Journal of Human Genetics, 27 (3)

وصف الملف: application/application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/000458626500011; http://hdl.handle.net/20.500.11850/328368

الاتاحة: https://hdl.handle.net/20.500.11850/328368
https://doi.org/10.3929/ethz-b-000328368

المؤلفون: Papuc, Sorina M., Abela, Lucia, Steindl, Katharina, Begemann, Anaïs, Simmons, Thomas L., Schmitt, Bernhard, Zweier, Markus, Oneda, Beatrice, Socher, Eileen, Crowther, Lisa M., Wohlrab, Gabriele, Gogoll, Laura, Poms, Martin, Seiler, Michelle, Papik, Michael, Baldinger, Rosa, Baumer, Alessandra, Asadollahi, Reza, Kroell-Seger, Judith, Schmid, Regula, Iff, Tobias, Schmitt-Mechelke, Thomas, Otten, Karoline, Hackenberg, Annette, Addor, Marie-Claude, Klein, Andrea, Azzarello-Burri, Silvia, Sticht, Heinrich, Joset, Pascal, Plecko, Barbara, Rauch, Anita

المساهمون: Universität Zürich, Scientific Exchange Programme between Switzerland and the novel member states of the EU, University of Zurich Filling the Gap program, radiz—Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases of the University of Zurich

المصدر: European Journal of Human Genetics ; volume 27, issue 3, page 408-421 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-018-0299-8
http://www.nature.com/articles/s41431-018-0299-8
http://www.nature.com/articles/s41431-018-0299-8.pdf

المؤلفون: Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M, Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke

المصدر: Abela, Lucia; Spiegel, Ronen; Crowther, Lisa M; Klein, Andrea; Steindl, Katharina; Papuc, Sorina Mihaela; Joset, Pascal; Zehavi, Yoav; Rauch, Anita; Plecko, Barbara; Simmons, Thomas Luke (2017). Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS ONE, 12(5):e0176363.

مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/141824/1/Abela_et_al._Plasma_metabolomics_reveals_a_diagnostic_metabolic_fingerprint.pdf; info:pmid/28463998; urn:issn:1932-6203

الاتاحة: https://www.zora.uzh.ch/id/eprint/141824/
https://www.zora.uzh.ch/id/eprint/141824/1/Abela_et_al._Plasma_metabolomics_reveals_a_diagnostic_metabolic_fingerprint.pdf
https://doi.org/10.1371/journal.pone.0176363

المؤلفون: Plecko, Barbara, Zweier, Markus, Begemann, Anaïs, Mathis, Deborah, Schmitt, Bernhard, Striano, Pasquale, Baethmann, Martina, Vari, Maria Stella, Beccaria, Francesca, Zara, Federico, Crowther, Lisa M, Joset, Pascal, Sticht, Heinrich, Papuc, Sorina Mihaela, Rauch, Anita

مصطلحات موضوعية: Neurogenetics

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/54/12/809; http://dx.doi.org/10.1136/jmedgenet-2017-104521

الاتاحة: http://jmg.bmj.com/cgi/content/short/54/12/809
https://doi.org/10.1136/jmedgenet-2017-104521

المؤلفون: Luebben, Anna, V, Bender, Daniel, Becker, Stefan, Crowther, Lisa M., Erven, Ilka, Hofmann, Kay, Soeding, Johannes, Klemp, Henry, Bellotti, Cristina, Stauble, Andreas, Qiu, Tian, Kathayat, Rahul S., Dickinson, Bryan C., Gaertner, Jutta, Sheldrick, George M., Kraetzner, Ralph, Steinfeld, Robert

مصطلحات موضوعية: ddc:no

Relation: Luebben, Anna, V, Bender, Daniel orcid:0000-0002-2975-4186 , Becker, Stefan, Crowther, Lisa M., Erven, Ilka orcid:0000-0002-1095-6861 , Hofmann, Kay, Soeding, Johannes, Klemp, Henry orcid:0000-0002-3147-3017 , Bellotti, Cristina orcid:0000-0002-3999-2807 , Stauble, Andreas, Qiu, Tian, Kathayat, Rahul S., Dickinson, Bryan C., Gaertner, Jutta, Sheldrick, George M., Kraetzner, Ralph and Steinfeld, Robert (2022). Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration. Sci. Adv., 8 (15). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 2375-2548

الاتاحة: https://kups.ub.uni-koeln.de/68343/

المؤلفون: Abela, Lucia, Simmons, Luke, Steindl, Katharina, Schmitt, Bernhard, Mastrangelo, Massimo, Joset, Pascal, Papuc, Mihaela, Sticht, Heinrich, Baumer, Alessandra, Crowther, Lisa M, Mathis, Déborah, Rauch, Anita, Plecko, Barbara

المصدر: Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M; Mathis, Déborah; Rauch, Anita; Plecko, Barbara (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.

مصطلحات موضوعية: Medical Clinic, Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/117773/1/Abela%20L%20et%20al%20N8-acetylspermidine%20as%20a%20potential.pdf; info:pmid/26174906; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/117773/

المؤلفون: Ingram, Wendy J, Crowther, Lisa M, Little, Erica B, Freeman, Ruth, Harliwong, Ivon, Veleva, Desi, Hassall, Timothy E, Remke, Marc, Taylor, Michael D, Hallahan, Andrew R

المصدر: Experimental Hematology & Oncology ; volume 2, issue 1 ; ISSN 2162-3619

الاتاحة: http://dx.doi.org/10.1186/2162-3619-2-26
http://link.springer.com/content/pdf/10.1186/2162-3619-2-26.pdf

المؤلفون: Plecko, Barbara, Zweier, Markus, Begeman, Anais, Mathis, Deborah, Schmitt, Bernhard, Striano, Pasquale, Baethmann, Martina, Vari, Maria Stella, Beccaria, Francesca, Zara, Federico, Crowther, Lisa M., Joset, Pascal, Sticht, Heinrich, Papuc, Mihaela S., Rauch, Anita

المصدر: European Journal of Paediatric Neurology ; volume 21, page e1 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2017.04.871
https://api.elsevier.com/content/article/PII:S1090379817311285?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379817311285?httpAccept=text/plain

المؤلفون: Abela, Lucia, Simmons, Luke, Steindl, Katharina, Schmitt, Bernhard, Mastrangelo, Massimo, Joset, Pascal, Papuc, Mihaela, Sticht, Heinrich, Baumer, Alessandra, Crowther, Lisa M., Mathis, Déborah, Rauch, Anita, Plecko, Barbara

المصدر: Journal of Inherited Metabolic Disease ; volume 39, issue 1, page 131-137 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-015-9876-y
http://link.springer.com/content/pdf/10.1007/s10545-015-9876-y.pdf
http://link.springer.com/article/10.1007/s10545-015-9876-y/fulltext.html
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-015-9876-y

المؤلفون: Ingram, Wendy J., Crowther, Lisa M., Little, Erica B., Freeman, Ruth, Harliwong, Ivon, Veleva, Desi, Hassall, Timothy E., Remke, Marc, Taylor, Michael D., Hallahan, Andrew R.

مصطلحات موضوعية: ABC transporter, ABCA1, ABCG2, Brain tumor, Medulloblastoma, Radiation resistance, Reserpine, Sonic hedgehog, Stem, Verapamil, 1306 Cancer Research, 2720 Hematology, 2730 Oncology

Relation: orcid:0000-0002-7063-1081; Not set; R01CA159859; R01CA148699

الاتاحة: https://espace.library.uq.edu.au/view/UQ:697904

المؤلفون: Kuphal, Silke, Martyn, Adam C., Pedley, Julie, Crowther, Lisa M., Bonazzi, Vanessa F., Parsons, Peter G., Bosserhoff, Anja K., Hayward, Nicholas K., Boyle, Glen M.

المساهمون: Colin R. Goding

مصطلحات موضوعية: H-cadherin, Migration, Invasion, Melanocytes, C1, 970111 Expanding Knowledge in the Medical and Health Sciences, 111201 Cancer Cell Biology

Relation: orcid:0000-0002-2574-0334

الاتاحة: https://espace.library.uq.edu.au/view/UQ:201149

المؤلفون: Ramakrishnan, Sathiya N., Lau, Patrick, Crowther, Lisa M., Cleasby, Mark E., Millard, Susan, Leong, Gary M., Cooney, Gregory J., Muscat, George E. O.

مصطلحات موضوعية: Nuclear Receptors, Rev-erb Beta, Srebp-1c, gene expression, Transcription, Skeletal muscle, Nuclear hormone receptor, C1, 920106 Endocrine Organs and Diseases (excl. Diabetes), 060104 Cell Metabolism, 110306 Endocrinology

Relation: orcid:0000-0003-1738-3362; orcid:0000-0002-5829-5695

الاتاحة: https://espace.library.uq.edu.au/view/UQ:195569

المؤلفون: Plecko, Barbara, Zweier, Markus, Begemann, Anaïs, Mathis, Deborah, Schmitt, Bernhard, Striano, Pasquale, Baethmann, Martina, Vari, Maria Stella, Beccaria, Francesca, Zara, Federico, Crowther, Lisa M., Joset, Pascal, Sticht, heinrich, Papuc, Sorina Mihaela, Rauch, Anita

المصدر: Journal of Medical Genetics; Dec2017, Vol. 54 Issue 12, p809-814, 6p

المؤلفون: Plecko, Barbara, Zweier, Markus, Begemann, Anais, Mathis, Deborah, Schmitt, Bernhard, Striano, Pasquale, Baethmann, Martina, Vari, Maria Stella, Beccaria, Francesca, Zara, Federico, Crowther, Lisa M, Joset, Pascal, Sticht, Heinrich, Papuc, Sorina Mihaela, Rauch, Anita

المصدر: Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 12 p809-814, 6p

المؤلفون: Crowther, Lisa M.¹, Shu-Ching Mary Wang¹, Eriksson, Natalie A.¹, Myers, Stephen A.¹, Murray, Lauren A.¹, Muscat, George E. O.¹ g.muscat@imb.uq.edu.au

المصدر: Physiological Genomics. 2011, Vol. 43 Issue 4, p213-227. 15p.