Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial

Autor: Sven Dittrich, Erika Graf, Regina Trollmann, Ulrich Neudorf, Ulrike Schara, Antje Heilmann, Maja von der Hagen, Brigitte Stiller, Janbernd Kirschner, Robert Dalla Pozza, Wolfgang Müller-Felber, Katja Weiss, Katja von Au, Markus Khalil, Reinald Motz, Christoph Korenke, Martina Lange, Ekkehard Wilichowski, Joseph Pattathu, Friedrich Ebinger, Nicola Wiechmann, Rolf Schröder, on behalf of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

Abstract Background X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the AC

Externí odkaz: https://doaj.org/article/2c488c5520894228869bcc736e4817ce

A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene

Autor: Laura Nanna Lohkamp, Karin Drossel, Brunhilde Wirth, Ulrike Grieben, Wolfram Kress, Werner Stenzel, Lutz Garbes, Frank L. Heppner, Katja von Au, Hans-Hilmar Goebel

Publikováno v: Journal of Child Neurology; Vol 29

Spinal muscular atrophy is an autosomal-recessive neuromuscular disorder, causing progressive proximal weakness and atrophy of the voluntary muscles. More than 96% of the spinal muscular atrophy patients show a homozygous absence of exons 7 and 8, or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::898a139df75b2cdd81280cfd8e96442b

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

Autor: Ashwin Chari, Ulf-Peter Guenther, Mona Alzheimer, Jürgen Ohmer, Oliver Plöttner, Niels H. Gehring, Sibylle Jablonka, Katja von Au, Lusy Handoko, Albert Sickmann, Bernhard Laggerbauer, Utz Fischer, Markus Schuelke

Publikováno v: Human Molecular Genetics. 18:1288-1300

Distal spinal muscular atrophy type 1 (DSMA1) is an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress. In this disease, the degeneration of alpha-motoneurons is caused by mutations in the im

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08df77b79d590cd241637ee655bf6a87
https://doi.org/10.1093/hmg/ddp028

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

Autor: Christoph Hübner, Ulf-Peter Guenther, Markus Schuelke, Maria Schlicke, Véronique Dutrannoy, Katja von Au, Alexander E Volk, Raymonda Varon

Publikováno v: Human Mutation. 28:808-815

Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder. Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c6b59f925e6c9a8899cc4cbd4f796a4
https://doi.org/10.1002/humu.20525

Transcriptional regulator PRDM12 is essential for human pain perception

Autor: Adeline K Nicholas, Frank Reimann, Uffe Birk Jensen, Mary M. Reilly, Andreas C. Themistocleous, Rosemarie Watson, Patrick Willems, C. Geoffrey Woods, Claudia Stendel, Eberhard Passarge, Shinya Matsukawa, Ofélia P. Carvalho, G. Karbani, Michael S. Nahorski, Ya Chun Chen, Manuela Zitzelsberger, Marina Dusl, Enza Maria Valente, Carlos Martín Restrepo, Tatsuo Michiue, Yesim Parman, Caecilia Weiss, Sinéad M. Murphy, Adrian W. Moore, Regina Kropatsch, Chrysanthi Samara, Thomas Wieland, Maeve A. McAleer, Rolf Stucka, Ingo Kurth, Maria Schabhüttl, Bernd Rautenstrauss, Jonathan Baets, Peter De Jonghe, Roman Chrast, Istvan Katona, John McHugh, Lily T. Y. Cho, Carsten Bergmann, Christian Finke, Alan D. Irvine, Katja von Au, Jens Michael Hertz, Luitgard Graul-Neumann, Jan Senderek, Tim M. Strom, Annina B. Schmid, Diego Pereira, Fay Stafford, Manuela Baumgartner, Ute Moog, Joachim Weis, Wolfram Heinritz, Reinhard Windhager, Gareth T. Young, Maria Roberta Cilio, Samiha S. Shaikh, Michaela Auer-Grumbach, David L.H. Bennett

Publikováno v: ResearcherID
Nature genetics 47(7), 803-808 (2015). doi:10.1038/ng.3308
Chen, Y C, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, A C, Strom, T M, Samara, C, Moore, A W, Cho, L T Y, Young, G T, Weiss, C, Schabhüttl, M, Stucka, R, Schmid, A B, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, R M, Hertz, J M, Moog, U, Baumgartner, M, Valente, E M, Pereira, D, Restrepo, C M, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, P J, Nahorski, M S, Shaikh, S S, Carvalho, O P, Nicholas, A K, Karbani, G, McAleer, M A, Cilio, M R, McHugh, J C, Murphy, S M, Irvine, A D, Jensen, U B, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B & Baets, J 2015, ' Transcriptional regulator PRDM12 is essential for human pain perception ', Nature Genetics, vol. 47, no. 7, pp. 803-808 . https://doi.org/10.1038/ng.3308
Nature genetics
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0cbb4d259627366e5cb9cef06a0fd90
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=84933279454