Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Lisa M. Crowther"'
Autor:
Federica Storti, Sara Santambrogio, Lisa M. Crowther, Teresa Otto, Irene Abreu-Rodríguez, Muriel Kaufmann, Cheng-Jun Hu, Christof Dame, Joachim Fandrey, Roland H. Wenger, David Hoogewijs
Publikováno v:
Haematologica, Vol 99, Iss 4 (2014)
Externí odkaz:
https://doaj.org/article/8d88a7c6107a4cf3bc6dc172a624b2da
Autor:
Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0176363 (2017)
Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described a
Externí odkaz:
https://doaj.org/article/29039edbeca544bdbfd5fbbc95fd005c
Autor:
Anna V, Luebben, Daniel, Bender, Stefan, Becker, Lisa M, Crowther, Ilka, Erven, Kay, Hofmann, Johannes, Söding, Henry, Klemp, Cristina, Bellotti, Andreas, Stäuble, Tian, Qiu, Rahul S, Kathayat, Bryan C, Dickinson, Jutta, Gärtner, George M, Sheldrick, Ralph, Krätzner, Robert, Steinfeld
Publikováno v:
Science advances. 8(15)
Genetic
Autor:
Lisa M. Crowther, Martin Poms, Martina Zandl‐Lang, Lucia Abela, Hans Hartmann, Michelle Seiler, Déborah Mathis, Barbara Plecko
AIM Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase ), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6 -dependent epilepsy (PDE-ALDH7A1). Despite seizure control with high dose pyr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e69780bd3b99006172f0e529c13fe5
Publikováno v:
Journal of Inherited Metabolic Disease. 42:620-628
Deficiency of antiquitin (ATQ), an enzyme involved in lysine degradation, is the major cause of vitamin B6 -dependent epilepsy. Accumulation of the potentially neurotoxic α-aminoadipic semialdehyde (AASA) may contribute to frequently associated deve
Autor:
Pascal Joset, Martin Poms, Anaïs Begemann, Marie-Claude Addor, Thomas Luke Simmons, Reza Asadollahi, Andrea Klein, Markus Zweier, Rosa Baldinger, Barbara Plecko, Alessandra Baumer, Annette Hackenberg, Silvia Azzarello-Burri, Thomas Schmitt-Mechelke, Judith Kroell-Seger, Anita Rauch, Eileen Socher, Sorina Mihaela Papuc, Katharina Steindl, Lisa M. Crowther, Karoline Otten, Regula Schmid, Beatrice Oneda, Lucia Abela, Gabriele Wohlrab, Michelle Seiler, Laura Gogoll, Heinrich Sticht, Tobias Iff, Michael Papik, Bernhard Schmitt
Publikováno v:
European Journal of Human Genetics, 27 (3)
European Journal of Human Genetics
European journal of human genetics, vol. 27, no. 3, pp. 408-421
European Journal of Human Genetics
European journal of human genetics, vol. 27, no. 3, pp. 408-421
Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating conditions. Recent studies emphasized de novo variants as major underlying cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa720540e7b52c866ebdfa91ddb6744
https://hdl.handle.net/20.500.11850/328368
https://hdl.handle.net/20.500.11850/328368
Autor:
Karin Beese, Hans Hartmann, Céline Bürer, Anita Rauch, Sorina Mihaela Papuc, Lucia Abela, Nanda M. Verhoeven-Duif, Lisa M. Crowther, Monique Albersen, Eduard A. Struys, Déborah Mathis, Levinus A. Bok, Martin Hersberger, Barbara Plecko
Publikováno v:
Mathis, D, Abela, L, Albersen, M, Burer, C, Crowther, L, Beese, K, Hartmann, H, Bok, L A, Struys, E, Papuc, S M, Rauch, A, Hersberger, M, Verhoeven-Duif, N M & Plecko, B 2016, ' The value of plasma vitamin B-6 profiles in early onset epileptic encephalopathies ', Journal of Inherited Metabolic Disease, vol. 39, no. 5, pp. 733-741 . https://doi.org/10.1007/s10545-016-9955-8
Journal of Inherited Metabolic Disease, 39(5), 733-741. Springer Netherlands
Journal of Inherited Metabolic Disease, 39(5), 733–741. Springer Netherlands
Journal of Inherited Metabolic Disease, 39(5), 733-741. Springer Netherlands
Journal of Inherited Metabolic Disease, 39(5), 733–741. Springer Netherlands
BACKGROUND: Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vita
Publikováno v:
Journal of Inherited Metabolic Disease
Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d47a236a46894a42b12df8dc02c4c1a
https://www.zora.uzh.ch/id/eprint/162677/
https://www.zora.uzh.ch/id/eprint/162677/
Autor:
Lucia Abela, Lisa M. Crowther, Luke Simmons, Heinrich Sticht, Katharina Steindl, Pascal Joset, Déborah Mathis, Alessandra Baumer, Anita Rauch, Massimo Mastrangelo, Barbara Plecko, Bernhard Schmitt, Mihaela S. Papuc
Publikováno v:
Journal of Inherited Metabolic Disease. 39:131-137
Clinical metabolomics has emerged as a powerful tool to study human metabolism in health and disease. Comparative statistical analysis of untargeted metabolic profiles can reveal perturbations of metabolite levels in diseases and thus has the potenti
Autor:
Sorina Mihaela Papuc, Pascal Joset, Lisa M. Crowther, Pasquale Striano, Anaïs Begemann, Anita Rauch, Bernhard Schmitt, Barbara Plecko, Federico Zara, Heinrich Sticht, Francesca Beccaria, Martina Baethmann, Maria Stella Vari, Déborah Mathis, Markus Zweier
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently bia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4725fd1810fd6a78367b9c3032b56c70
https://www.zora.uzh.ch/id/eprint/138782/
https://www.zora.uzh.ch/id/eprint/138782/