Authors: Natalja Haninger-Vacariu, Kyra Anastopoulos, Christof Aigner, Raute Sunder-Plassmann, Constantin Gatterer, Markus Ponleitner, Gere Sunder-Plassmann, Alice Schmidt

Superior Title: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

Subject Terms: Fabry disease, Pregnancy, Pregnancy outcomes, Delivery outcomes, Pregnancy counselling, Lysosomal storage disorders, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/78fb8239d6ee479cb7615ca75a0de611

Authors: Isabelle Weinhofer, Paulus Rommer, Andreas Gleiss, Markus Ponleitner, Bettina Zierfuss, Petra Waidhofer-Söllner, Stéphane Fourcade, Katharina Grabmeier-Pfistershammer, Marie-Christine Reinert, Jens Göpfert, Anne Heine, Hemmo A.F. Yska, Carlos Casasnovas, Verónica Cantarín, Caroline G. Bergner, Eric Mallack, Sonja Forss-Petter, Patrick Aubourg, Annette Bley, Marc Engelen, Florian Eichler, Troy C. Lund, Aurora Pujol, Wolfgang Köhler, Jörn-Sven Kühl, Johannes Berger

Superior Title: EBioMedicine, Vol 96, Iss , Pp 104781- (2023)

Subject Terms: X-ALD, Neurodegeneration, Biomarker, Neurofilament light chain, Cytokines, GFAP, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S235239642300347X; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/275297f07de64a75ad4b82604a75b650

Authors: Simon Hametner, Sara Silvaieh, Majda Thurnher, Assunta Dal-Bianco, Hakan Cetin, Markus Ponleitner, Karin Zebenholzer, Berthold Pemp, Siegfried Trattnig, Karl Rössler, Thomas Berger, Hans Lassmann, Johannes A. Hainfellner, Gabriel Bsteh

Superior Title: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-9 (2022)

Subject Terms: Demyelination, Mitochondria, Oligodendrocytes, Oncocytes, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/3baa2cbafbf54d4da3454de5ec3fd891

Authors: Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann

Superior Title: Frontiers in Genetics, Vol 14 (2023)

Subject Terms: Alport syndrome, case report, chronic kidney disease, COL4A4, Fabry disease, GLA, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1211858/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/c29a471acb98464c9f446da987eaa898

Authors: Harald Hegen, Klaus Berek, Gabriel Bsteh, Michael Auer, Patrick Altmann, Franziska Di Pauli, Astrid Grams, Dejan Milosavljevic, Markus Ponleitner, Paulina Poskaite, Christine Schnabl, Sebastian Wurth, Anne Zinganell, Thomas Berger, Janette Walde, Florian Deisenhammer

Superior Title: EBioMedicine, Vol 91, Iss , Pp 104573- (2023)

Subject Terms: Cerebrospinal fluid, Kappa free light chain, Neurofilament light, Multiple sclerosis, Disease activity, Prediction, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S235239642300138X; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/633a6f04b20949cca05f3b92b0be3dd3

Authors: Patrick Altmann, Markus Ponleitner, Tobias Monschein, Nik Krajnc, Gudrun Zulehner, Tobias Zrzavy, Fritz Leutmezer, Paulus Stefan Rommer, Barbara Kornek, Thomas Berger, Gabriel Bsteh

Superior Title: Digital Health, Vol 8 (2022)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7

File Description: electronic resource

Relation: https://doaj.org/toc/2055-2076

Access URL: https://doaj.org/article/ad0b53cf7ffd40d78ff77ddb37e06879

Authors: Constantin Gatterer, Dietrich Beitzke, Senta Graf, Max Lenz, Gere Sunder-Plassmann, Christopher Mann, Markus Ponleitner, Robert Manka, Daniel Fritschi, Pierre-Alexandre Krayenbuehl, Philipp Kamm, Olivier Dormond, Frédéric Barbey, Pierre Monney, Albina Nowak

Superior Title: Life, Vol 13, Iss 5, p 1213 (2023)

Subject Terms: Fabry disease, cardiac imaging, cardiac magnetic resonance, chaperone, migalastat, cardiomyopathy, Science

File Description: electronic resource

Relation: https://www.mdpi.com/2075-1729/13/5/1213; https://doaj.org/toc/2075-1729

Access URL: https://doaj.org/article/c2340785ca174ce9a82df8f7fc53bac2

Authors: Patrick Altmann, Fritz Leutmezer, Markus Ponleitner, Dominik Ivkic, Nik Krajnc, Paulus Stefan Rommer, Thomas Berger, Gabriel Bsteh

Superior Title: Digital Health, Vol 8 (2022)

Subject Terms: Computer applications to medicine. Medical informatics, R858-859.7

File Description: electronic resource

Relation: https://doaj.org/toc/2055-2076

Access URL: https://doaj.org/article/01862792a0704d38aa7c4bcd940634f5

Authors: Patrick Altmann, Markus Ponleitner, Paulus Stefan Rommer, Helmuth Haslacher, Patrick Mucher, Fritz Leutmezer, Axel Petzold, Christoph Wotawa, Rupert Lanzenberger, Thomas Berger, Henrik Zetterberg, Gabriel Bsteh

Superior Title: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/358a90b1ab554193b676f82369723acf

Authors: Patrick Altmann, Markus Ponleitner, Paulus Stefan Rommer, Helmuth Haslacher, Patrick Mucher, Fritz Leutmezer, Axel Petzold, Christoph Wotawa, Rupert Lanzenberger, Thomas Berger, Henrik Zetterberg, Gabriel Bsteh

Superior Title: Scientific Reports, Vol 12, Iss 1, Pp 1-2 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/c6dcdf73110e42a1aa83788ba0964c47

Authors: Patrick Altmann, Fritz Leutmezer, Katharina Leithner, Tobias Monschein, Markus Ponleitner, Miranda Stattmann, Paulus Stefan Rommer, Tobias Zrzavy, Gudrun Zulehner, Klaus Berek, Thomas Berger, Gabriel Bsteh

Superior Title: Frontiers in Neurology, Vol 12 (2021)

Subject Terms: sexuality, sexual dysfunction–risk factors, multiple sclerosis, patient reported outcome, risk, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.618370/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/7ee68e617a5744bba381f18d3d3a5acd

Authors: Patrick Altmann, Dominik Ivkic, Markus Ponleitner, Fritz Leutmezer, Ulrike Willinger, Michaela Schmoeger, Thomas Berger, Gabriel Bsteh, Henriette Löffler-Stastka

Superior Title: International Journal of Environmental Research and Public Health; Volume 19; Issue 2; Pages: 902

Subject Terms: telemedicine, telehealth, satisfaction, perception, questionnaire

Subject Geographic: agris

File Description: application/pdf

Relation: Mental Health; https://dx.doi.org/10.3390/ijerph19020902

Availability: https://doi.org/10.3390/ijerph19020902

Authors: Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann

Subject Terms: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, Alport syndrome, case report, chronic kidney disease, COL4A4, Fabry disease, GLA, microhematuria

Relation: https://figshare.com/articles/dataset/DataSheet1_Phenotyping_of_a_novel_COL4A4_and_novel_GLA_variant_in_a_patient_presenting_with_microhematuria_and_mildly_impaired_kidney_function_a_case_report_docx/23274062

Availability: https://doi.org/10.3389/fgene.2023.1211858.s001
https://figshare.com/articles/dataset/DataSheet1_Phenotyping_of_a_novel_COL4A4_and_novel_GLA_variant_in_a_patient_presenting_with_microhematuria_and_mildly_impaired_kidney_function_a_case_report_docx/23274062