Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Stefan Quasthoff"'
Autor:
Johannes Schmid, Meinrad Beer, Andrea Berghold, Tatjana Stojakovic, Hubert Scharnagl, Benjamin Dieplinger, Stefan Quasthoff, Josepha S. Binder, Peter P. Rainer
Publikováno v:
ESC Heart Failure, Vol 7, Iss 4, Pp 1900-1908 (2020)
Abstract Aims Cardiac involvement in myopathies that primarily affect the skeletal muscle is variable and may be subtle, necessitating sensitive diagnostic approaches. Here, we describe the prevalence of cardiac abnormalities in a cohort of patients
Externí odkaz:
https://doaj.org/article/70f299ccb84846d5a2793a6bf3036c00
Autor:
Michaela Auer-Grumbach, Rene Rettl, Klemens Ablasser, Hermine Agis, Christian Beetz, Franz Duca, Martin Gattermeier, Franz Glaser, Markus Hacker, Renate Kain, Birgit Kaufmann, Gabor G. Kovacs, Christian Lampl, Neira Ljevakovic, Jutta Nagele, Gerhard Pölzl, Stefan Quasthoff, Bernadette Raimann, Helmut Rauschka, Christian Reiter, Volha Skrahina, Othmar Schuhfried, Raute Sunder-Plassmann, Nicolas D. Verheyen, Julia Wanschitz, Thomas Weber, Reinhard Windhager, Raphael Wurm, Friedrich Zimprich, Wolfgang N. Löscher, Diana Bonderman
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 7, p 2234 (2020)
Background: Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominantly inherited disorder caused by an accumulation of amyloid fibrils in tissues due to mutations in the transthyretin (TTR) gene. The prevalence of hATTR is still unclear
Externí odkaz:
https://doaj.org/article/5f4bbd6d8d5845c0b4df3da113c4cacc
Autor:
Florian Borsodi, Valeriu Culea, Christian Langkammer, Michael Khalil, Lukas Pirpamer, Stefan Quasthoff, Christian Enzinger, Reinhold Schmidt, Franz Fazekas, Stefan Ropele
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0178371 (2017)
Several quantitative magnetic resonance imaging (MRI) techniques have been proposed to investigate microstructural tissue changes in amyotrophic lateral sclerosis (ALS) including diffusion tensor imaging (DTI), magnetization transfer imaging, and R2*
Externí odkaz:
https://doaj.org/article/7773dd7e72bb40568aff7d19658dfec4
Autor:
Alexander Marschall, Anja Ficjian, Martin H Stradner, Rusmir Husic, Dorothea Zauner, Werner Seel, Nicole E Simmet, Alexander Klammer, Petra Heizer, Kerstin Brickmann, Judith Gretler, Florentine C Fürst-Moazedi, Rene Thonhofer, Josef Hermann, Winfried B Graninger, Stefan Quasthoff, Christian Dejaco
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162288 (2016)
OBJECTIVES:To investigate the prognostic value of B-mode and Power Doppler (PD) ultrasound of the median nerve for the short- and long-term clinical outcomes of patients with carpal tunnel syndrome (CTS). METHODS:Prospective study of 135 patients wit
Externí odkaz:
https://doaj.org/article/12c5ea39fc6d43cc858032e67613715f
Autor:
Ivana Poparic, Wolfgang Schreibmayer, Benedikt Schoser, Gernot Desoye, Astrid Gorischek, Heidi Miedl, Sonja Hochmeister, Josepha Binder, Stefan Quasthoff, Klaus Wagner, Christian Windpassinger, Ernst Malle
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e26524 (2011)
Four-and-a-half LIM domain protein 1 isoform A (FHL1A) is predominantly expressed in skeletal and cardiac muscle. Mutations in the FHL1 gene are causative for several types of hereditary myopathies including X-linked myopathy with postural muscle atr
Externí odkaz:
https://doaj.org/article/cae5c4c00dca4c0798753956d411951c
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
Autor:
Martin Krenn, Merve Sener, Jakob Rath, Gudrun Zulehner, Omar Keritam, Matias Wagner, Franco Laccone, Stephan Iglseder, Sonja Marte, Manuela Baumgartner, Astrid Eisenkölbl, Christian Liechtenstein, Sabine Rudnik, Stefan Quasthoff, Susanne Grinzinger, Johannes Spenger, Saskia B. Wortmann, Wolfgang N. Löscher, Fritz Zimprich, Anna Kellersmann, Mika Rappold, Günther Bernert, Michael Freilinger, Hakan Cetin
Publikováno v:
Journal of Neurology, 270, 909-916
Journal of Neurology, 270, 2, pp. 909-916
J. Neurol. 270, 909-916 (2023)
Journal of Neurology, 270, 2, pp. 909-916
J. Neurol. 270, 909-916 (2023)
Background Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and syste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eac79402f45ed8b0df3052f7e5df38b
http://hdl.handle.net/2066/291312
http://hdl.handle.net/2066/291312
Autor:
Stefan Quasthoff, Johannes Schmid, Josepha S. Binder, Meinrad Beer, Andrea Berghold, Hubert Scharnagl, Benjamin Dieplinger, Peter P. Rainer, Tatjana Stojakovic
Publikováno v:
ESC Heart Failure
ESC Heart Failure, Vol 7, Iss 4, Pp 1900-1908 (2020)
ESC Heart Failure, Vol 7, Iss 4, Pp 1900-1908 (2020)
Aims Cardiac involvement in myopathies that primarily affect the skeletal muscle is variable and may be subtle, necessitating sensitive diagnostic approaches. Here, we describe the prevalence of cardiac abnormalities in a cohort of patients with skel
Autor:
Hakan Cetin, Fritz Zimprich, Julia Jecel, Waltraud Kleindienst, Eva Lenzenweger, Marcus Erdler, Dierk Oel, Stefan Quasthoff, Karl Stieglbauer, Klaus Berek, Jakob Rath, Wolfgang Löscher, Susanne Grinzinger, Julia Wanschitz, Wolfgang Örtl, Michael Huemer, Eva-Maria Oberreiter, Isolde Hess, Norbert Embacher, Eva Laich, Raffi Topakian, Petra Müller, Claudia Thaler-Wolf, Valeriu Culea, Klaus Stadler, Corinne G. C. Horlings, Franz Stefan Höger
Publikováno v:
Journal of Neurology
Background and objectives Multifocal motor neuropathy (MMN) is a rare neuropathy and detailed descriptions of larger patient cohorts are scarce. The objective of this study was to evaluate epidemiological, clinical, and laboratory features of MMN pat
Autor:
Stefan Quasthoff, Martin Asslaber, Hubert Scharnagl, Andrea Berghold, Benjamin Dieplinger, Malgorzata Polacin, Peter P. Rainer, Ruth Birner-Gruenberger, Dieter H. Szolar, Meinrad Beer, Johannes Schmid, Roman Radl, Tatjana Stojakovic, Johannes Mair, Josepha S. Binder, Laura Liesinger
Publikováno v:
Journal of the American College of Cardiology. 71:1540-1549
Background Cardiac troponins are often elevated in patients with skeletal muscle disease who have no evidence of cardiac disease. Objectives The goal of this study was to characterize cardiac troponin concentrations in patients with myopathies and de