Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
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
Published in PloS one (02.05.2017)
Published in PloS one (02.05.2017)
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Journal Article
ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma
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
Published in Experimental hematology & oncology (04.10.2013)
Published in Experimental hematology & oncology (04.10.2013)
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Journal Article
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
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
Published in Journal of medical genetics (01.12.2017)
Published in Journal of medical genetics (01.12.2017)
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Journal Article
A novel distal upstream hypoxia response element regulating oxygen-dependent erythropoietin gene expression
Storti, Federica, Santambrogio, Sara, Crowther, Lisa M, Otto, Teresa, Abreu-Rodríguez, Irene, Kaufmann, Muriel, Hu, Cheng-Jun, Dame, Christof, Fandrey, Joachim, Wenger, Roland H, Hoogewijs, David
Published in Haematologica (Roma) (01.04.2014)
Published in Haematologica (Roma) (01.04.2014)
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Journal Article
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
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
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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Journal Article
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy
Crowther, Lisa M., Poms, Martin, Zandl‐Lang, Martina, Abela, Lucia, Hartmann, Hans, Seiler, Michelle, Mathis, Déborah, Plecko, Barbara
Published in Journal of inherited metabolic disease (01.01.2023)
Published in Journal of inherited metabolic disease (01.01.2023)
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Journal Article
N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
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
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
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Journal Article
Cln5 represents a new type of cysteine-based S -depalmitoylase linked to neurodegeneration
Luebben, Anna V, Bender, Daniel, Becker, Stefan, Crowther, Lisa M, Erven, Ilka, Hofmann, Kay, Söding, Johannes, Klemp, Henry, Bellotti, Cristina, Stäuble, Andreas, Qiu, Tian, Kathayat, Rahul S, Dickinson, Bryan C, Gärtner, Jutta, Sheldrick, George M, Krätzner, Ralph, Steinfeld, Robert
Published in Science advances (15.04.2022)
Published in Science advances (15.04.2022)
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Journal Article
Confirmation of mutations in the PROSC gene as a novel cause of vitamin B6 dependent epilepsy
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
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
H-Cadherin expression reduces invasion of malignant melanoma
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.
Published in Pigment cell and melanoma research (01.06.2009)
Published in Pigment cell and melanoma research (01.06.2009)
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Journal Article
Chicken ovalbumin upstream promoter-transcription factor II regulates nuclear receptor, myogenic, and metabolic gene expression in skeletal muscle cells
Crowther, Lisa M, Wang, Shu-Ching Mary, Eriksson, Natalie A, Myers, Stephen A, Murray, Lauren A, Muscat, George E O
Published in Physiological genomics (01.02.2011)
Published in Physiological genomics (01.02.2011)
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Journal Article
Rev-erb beta regulates the Srebp-1c promoter and mRNA expression in skeletal muscle cells
Ramakrishnan, Sathiya N., Lau, Patrick, Crowther, Lisa M., Cleasby, Mark E., Millard, Susan, Leong, Gary M., Cooney, Gregory J., Muscat, George E.O.
Published in Biochemical and biophysical research communications (30.10.2009)
Published in Biochemical and biophysical research communications (30.10.2009)
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Journal Article
N 8 ‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics
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
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
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Journal Article
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase
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
Published in PloS one (02.05.2017)
Published in PloS one (02.05.2017)
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Journal Article
Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy
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
Published in Journal of medical genetics (01.12.2017)
Published in Journal of medical genetics (01.12.2017)
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Journal Article
N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
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
Published in Journal of inherited metabolic disease (2016)
Published in Journal of inherited metabolic disease (2016)
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Journal Article
N^sup 8^-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
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
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
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Journal Article
N super(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics
Abela, Lucia, Simmons, Luke, Steindl, Katharina, Schmitt, Bernhard, Mastrangelo, Massimo, Joset, Pascal, Papuc, Mihaela, Sticht, Heinrich, Baumer, Alessandra, Crowther, Lisa M, Mathis, Deborah, Rauch, Anita, Plecko, Barbara
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
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Journal Article