Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy

por Crowther, Lisa M., Poms, Martin, Zandl‐Lang, Martina, Abela, Lucia, Hartmann, Hans, Seiler, Michelle, Mathis, Déborah, Plecko, Barbara
Publicado 2022

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

por 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
Publicado 2017

ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma

por 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
Publicado 2013

Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration

por 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
Publicado 2022

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

por 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
Publicado 2018