Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Jakob Rath"'
Autor:
Markus Ponleitner, Constantin Gatterer, Gabriel Bsteh, Jakob Rath, Patrick Altmann, Thomas Berger, Senta Graf, Gere Sunder-Plassmann, Paulus Stefan Rommer
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Fabry disease (FD) constitutes a rare, X-linked lysosomal storage disorder affecting multiple organ systems, most notably heart, kidneys, and the central nervous system. Neurofilament light chains (NfL) have emerged as a prime candidate for
Externí odkaz:
https://doaj.org/article/81d47df9e4804957a477d0ccbdfceddd
Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation
Autor:
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub‐Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpi, Hakan Cetin
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
Abstract Objective Mutations in the gene encoding for optineurin (OPTN) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum. Based on s
Externí odkaz:
https://doaj.org/article/3c6d0f0f683f471fbf37374686e34d4b
Autor:
Jasmin S. Schubert, Eva Doloszeski, Pablo Ayala, Stephen Nagaraju Myakala, Jakob Rath, Bernhard Fickl, Ariane Giesriegl, Dogukan H. Apaydin, Bernhard C. Bayer, Shun Kashiwaya, Alexey Cherevan, Dominik Eder
Publikováno v:
Advanced Materials Interfaces, Vol 11, Iss 3, Pp n/a-n/a (2024)
Abstract Thermal treatments can have detrimental effects on the photocatalytic hydrogen (H2) evolution performance and impact the formation mechanism of the active state of surface‐supported co‐catalysts. In this work, a range of Ni‐based co‐
Externí odkaz:
https://doaj.org/article/54a12ccaea0742e8814e39ad4c9160b8
Autor:
Hannah Rabl, Stephen Nagaraju Myakala, Jakob Rath, Bernhard Fickl, Jasmin S. Schubert, Dogukan H. Apaydin, Dominik Eder
Publikováno v:
Communications Chemistry, Vol 6, Iss 1, Pp 1-8 (2023)
Syngas is an industrially highly relevant gaseous mixture of carbon monoxide and hydrogen, but its production is energy-intense and relies on natural gas precursors and noble-metal catalysts. Here, the authors explore metal-organic chalcogenolate ass
Externí odkaz:
https://doaj.org/article/1b9e0854aef5482a9b647501cbd85677
Autor:
Matthias Tomschik, Eva Renaud, Fiona Jäger, Chiara Paternostro, Jakob Rath, Walter Rinner, Gudrun Zulehner, Fritz Zimprich, Hakan Cetin
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)
Abstract Repetitive nerve stimulation (RNS) is a standard test for the diagnosis of myasthenia gravis (MG), where decrement of compound muscle action potentials (CMAP) corresponds to clinical muscle fatigability. Our aim was to ascertain the diagnost
Externí odkaz:
https://doaj.org/article/776e5a00a402476090d1e7f830014146
Autor:
Jakob Rath, Olivia Foesleitner, Lukas Haider, Hubert Bickel, Fritz Leutmezer, Stephan Polanec, Michael A. Arnoldner, Gere Sunder-Plassmann, Daniela Prayer, Thomas Berger, Paulus Rommer, Gregor Kasprian
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Objective White matter lesions (WML) in multiple sclerosis (MS) differ from vascular WML caused by Fabry disease (FD). However, in atypical cases the discrimination can be difficult and may vary between individual raters. The aim of this stu
Externí odkaz:
https://doaj.org/article/3e59fa5202b14284986fd5ac7c0a2641
Autor:
Jakob Rath, Gudrun Zulehner, Bernadette Schober, Anna Grisold, Martin Krenn, Hakan Cetin, Fritz Zimprich
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract This study investigated treatment characteristics of Guillain-Barré syndrome (GBS) in a real-world setting between 2000 and 2019. We analyzed clinical improvement between nadir and last follow-up in patients with severe GBS (defined as havi
Externí odkaz:
https://doaj.org/article/3973d21d9d3743acb19dd9273c18c1c1
Autor:
Patrick Altmann, Desiree De Simoni, Alexandra Kaider, Birgit Ludwig, Jakob Rath, Fritz Leutmezer, Fritz Zimprich, Romana Hoeftberger, Michael P. Lunn, Amanda Heslegrave, Thomas Berger, Henrik Zetterberg, Paulus Stefan Rommer
Publikováno v:
Journal of Neuroinflammation, Vol 17, Iss 1, Pp 1-10 (2020)
Abstract Background Guillain-Barré syndrome (GBS) is an autoimmune disease that results in demyelination and axonal damage. Five percent of patients die and 20% remain significantly disabled on recovery. Recovery is slow in most cases and eventual d
Externí odkaz:
https://doaj.org/article/6f576e8b8fce4cef9b0dc03f83565730
Autor:
Martin Krenn, Anna Grisold, Philipp Wohlfarth, Jakob Rath, Hakan Cetin, Inga Koneczny, Fritz Zimprich
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Myasthenic syndromes are typically characterized by muscle weakness and increased fatigability due to an impaired transmission at the neuromuscular junction (NMJ). Most cases are caused by acquired autoimmune conditions such as myasthenia gravis (MG)
Externí odkaz:
https://doaj.org/article/49cebfd5c5e148dca36c5d743de3f6f0
Autor:
Martin Krenn, Matthias Tomschik, Matias Wagner, Gudrun Zulehner, Rosa Weng, Jakob Rath, Sigrid Klotz, Ellen Gelpi, Gabriel Bsteh, Omar Keritam, Isabella Colonna, Chiara Paternostro, Fiona Jäger, Elisabeth Lindeck‐Pozza, Stephan Iglseder, Susanne Grinzinger, Martina Schönfelder, Christina Hohenwarter, Manfred Freimüller, Norbert Embacher, Julia Wanschitz, Raffi Topakian, Ana Töpf, Volker Straub, Stefan Quasthoff, Fritz Zimprich, Wolfgang N. Löscher, Hakan Cetin
Publikováno v:
Eur. J. Neurol. 29, 1815-1824 (2022)
Hereditary myopathies with limb-girdle muscular weakness (LGW) are a genetically heterogeneous group of disorders, in which molecular diagnosis remains challenging. Our aim was to present a detailed clinical and genetic characterization of a large co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d69fd628f4b40ca99a78490f29f9ef5c
https://doi.org/10.1111/ene.15306
https://doi.org/10.1111/ene.15306