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CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL
Author / Creator:Bartuzi, Paulina ; Billadeau, Daniel D. ; Favier, Robert ; Rong, Shunxing ; Dekker, Daphne ; Fedoseienko, Alina ; Fieten, Hille ; Wijers, Melinde ; Levels, Johannes H. ; Huijkman, Nicolette ; Kloosterhuis, Niels ; van der Molen, Henk ; Brufau, Gemma ; Groen, Albert K. ; Elliott, Alison M. ; Kuivenhoven, Jan Albert ; Plecko, Barbara ; Grangl, Gernot ; McGaughran, Julie ; Horton, Jay D. ; Burstein, Ezra ; Hofker, Marten H. ; van de Sluis, Bart
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-03, Vol.7 (1), p.10961-10961, Article 10961
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Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive
Author / Creator:Vogt, Guido ; Verheyen, Sarah ; Schwartzmann, Sarina ; Ehmke, Nadja ; Potratz, Cornelia ; Schwerin-Nagel, Anette ; Plecko, Barbara ; Holtgrewe, Manuel ; Seelow, Dominik ; Blatterer, Jasmin ; Speicher, Michael R ; Kornak, Uwe ; Horn, Denise ; Mundlos, Stefan ; Fischer-Zirnsak, Björn ; Boschann, Felix
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-07, Vol.59 (7), p.662-668
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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-05, Vol.12 (5), p.e0176363-e0176363
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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Author / Creator:Begemann, Anaïs ; Acuña, Mario A ; Zweier, Markus ; Vincent, Marie ; Steindl, Katharina ; Bachmann-Gagescu, Ruxandra ; Hackenberg, Annette ; Abela, Lucia ; Plecko, Barbara ; Kroell-Seger, Judith ; Baumer, Alessandra ; Yamakawa, Kazuhiro ; Inoue, Yushi ; Asadollahi, Reza ; Sticht, Heinrich ; Zeilhofer, Hanns Ulrich ; Rauch, Anita
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2019-02, Vol.25 (1), p.6-6, Article 6
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Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis
Author / Creator:Gefferie, Silvano R. ; Maric, Angelina ; Critelli, Hanne ; Gueden, Sophie ; Kurlemann, Gerhard ; Kurth, Salome ; Nosadini, Margherita ; Plecko, Barbara ; Ringli, Maya ; Rostásy, Kevin ; Sartori, Stefano ; Schmitt, Bernhard ; Suppiej, Agnese ; Van Bogaert, Patrick ; Wehrle, Flavia M. ; Huber, Reto ; Bölsterli, Bigna K.
Publisher:Amsterdam: Elsevier Inc
Journal title:NeuroImage (Orlando, Fla.), 2021-10, Vol.239, p.118281-118281, Article 118281
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Occasional seizures, epilepsy, and inborn errors of metabolism
Author / Creator:Dulac, Olivier, Prof ; Plecko, Barbara, Prof ; Gataullina, Svetlana, MD ; Wolf, Nicole I, MD
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2014-07, Vol.13 (7), p.727-739
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A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
Author / Creator:Herle, Marion ; Brunner-Krainz, Michaela ; Karall, Daniela ; Goeschl, Bernadette ; Möslinger, Dorothea ; Zobel, Joachim ; Plecko, Barbara ; Scholl-Bürgi, Sabine ; Spenger, Johannes ; Wortmann, Saskia B. ; Huemer, Martina
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.1-367, Article 367
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The clinical significance of small copy number variants in neurodevelopmental disorders
Author / Creator:Asadollahi, Reza ; Oneda, Beatrice ; Joset, Pascal ; Azzarello-Burri, Silvia ; Bartholdi, Deborah ; Steindl, Katharina ; Vincent, Marie ; Cobilanschi, Joana ; Sticht, Heinrich ; Baldinger, Rosa ; Reissmann, Regina ; Sudholt, Irene ; Thiel, Christian T ; Ekici, Arif B ; Reis, André ; Bijlsma, Emilia K ; Andrieux, Joris ; Dieux, Anne ; FitzPatrick, David ; Ritter, Susanne ; Baumer, Alessandra ; Latal, Beatrice ; Plecko, Barbara ; Jenni, Oskar G ; Rauch, Anita
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2014-10, Vol.51 (10), p.677-688
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A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based Approaches
Author / Creator:Züllig, Thomas ; Zandl-Lang, Martina ; Trötzmüller, Martin ; Hartler, Jürgen ; Plecko, Barbara ; Köfeler, Harald C.
Publisher:Basel: MDPI AG
Journal title:Metabolites, 2020-08, Vol.10 (9), p.342
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Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Author / Creator:Zandl-Lang, Martina ; Züllig, Thomas ; Trötzmüller, Martin ; Naegelin, Yvonne ; Abela, Lucia ; Wilken, Bernd ; Scholl-Buergi, Sabine ; Karall, Daniela ; Kappos, Ludwig ; Köfeler, Harald ; Plecko, Barbara
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2022-03, Vol.12 (4), p.291
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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
Author / Creator:Mathis, Déborah ; Abela, Lucia ; Albersen, Monique ; Bürer, Céline ; Crowther, Lisa ; Beese, Karin ; Hartmann, Hans ; Bok, Levinus A. ; Struys, Eduard ; Papuc, Sorina M. ; Rauch, Anita ; Hersberger, Martin ; Verhoeven-Duif, Nanda M. ; Plecko, Barbara
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.733-741
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Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns
Author / Creator:Rozmarič, Tomaž ; Mitulović, Goran ; Konstantopoulou, Vassiliki ; Goeschl, Bernadette ; Huemer, Martina ; Plecko, Barbara ; Spenger, Johannes ; Wortmann, Saskia B. ; Scholl-Bürgi, Sabine ; Karall, Daniela ; Greber-Platzer, Susanne ; Zeyda, Maximilian
Publisher:Basel: MDPI AG
Journal title:Diagnostics (Basel), 2020-08, Vol.10 (9), p.626
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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study
Author / Creator:Abela, Lucia ; Plecko, Barbara ; Palla, Antonella ; Burda, Patricie ; Nuoffer, Jean-Marc ; Ballhausen, Diana ; Rohrbach, Marianne
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.176-176, Article 176
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Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines
Author / Creator:Korinthenberg, Rudolf ; Trollmann, Regina ; Plecko, Barbara ; Stettner, Georg M. ; Blankenburg, Markus ; Weis, Joachim ; Schoser, Benedikt ; Müller-Felber, Wolfgang ; Lochbuehler, Nina ; Hahn, Gabriele ; Rudnik-Schöneborn, Sabine
Publisher:Basel: MDPI AG
Journal title:Children (Basel), 2021-08, Vol.8 (8), p.687
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Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet
Author / Creator:Papadopoulou, Maria T. ; Dalpa, Efterpi ; Portokalas, Michalis ; Katsanika, Irene ; Tirothoulaki, Katerina ; Spilioti, Martha ; Gerou, Spyros ; Plecko, Barbara ; Evangeliou, Athanasios E.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-07, Vol.60 (1), p.3-9
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Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases
Author / Creator:Zandl-Lang, Martina ; Plecko, Barbara ; Köfeler, Harald
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (2), p.1709
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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency
Author / Creator:Verheyen, Sarah ; Blatterer, Jasmin ; Speicher, Michael R ; Bhavani, Gandham SriLakshmi ; Boons, Geert-Jan ; Ilse, Mai-Britt ; Andrae, Dominik ; Sproß, Jens ; Vaz, Frédéric Maxime ; Kircher, Susanne G ; Posch-Pertl, Laura ; Baumgartner, Daniela ; Lübke, Torben ; Shah, Hitesh ; Al Kaissi, Ali ; Girisha, Katta M ; Plecko, Barbara
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-10, Vol.59 (10), p.957-964
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Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy
Author / Creator: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
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2017-12, Vol.54 (12), p.809-814
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Two Single Nucleotide Deletions in the IABCD1/I Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy
Author / Creator:Dohr, Katrin A ; Tokic, Silvija ; Gastager-Ehgartner, Magdalena ; Stojakovic, Tatjana ; Dumic, Miroslav ; Plecko, Barbara ; Dumic, Katja K
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2023-03, Vol.24 (6)
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Multiomics tools for the diagnosis and treatment of rare neurological disease
Author / Creator:Crowther, L. M. ; Poms, M. ; Plecko, Barbara
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.425-434
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CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL

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Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

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

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

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Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis

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Occasional seizures, epilepsy, and inborn errors of metabolism

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A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria

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The clinical significance of small copy number variants in neurodevelopmental disorders

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A Metabolomics Workflow for Analyzing Complex Biological Samples Using a Combined Method of Untargeted and Target-List Based Approaches

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Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome

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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

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Elevated Homocysteine after Elevated Propionylcarnitine or Low Methionine in Newborn Screening Is Highly Predictive for Low Vitamin B12 and Holo-Transcobalamin Levels in Newborns

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

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Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents—Consensus-Based Practice Guidelines

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Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet

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Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases

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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

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Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy

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Two Single Nucleotide Deletions in the IABCD1/I Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy

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Multiomics tools for the diagnosis and treatment of rare neurological disease

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