Showing 1 - 20 results of 47 for search 'Volker Straub', query time: 0.09s
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Use of EP3533-Enhanced Magnetic Resonance Imaging as a Measure of Disease Progression in Skeletal Muscle of mdx Mice by Alexander Peter Murphy, Alexander Peter Murphy, Elizabeth Greally, Dara O'Hogain, Andrew Blamire, Peter Caravan, Volker Straub, Volker Straub
Published 2021-06-01
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Mortality cost of Duchenne muscular dystrophy by Erik Landfeldt, Michelle Eagle, Volker Straub, Hanns Lochmüller, Katharine Bushby, Peter Lindgren
Published 2017-04-01
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Title not available by Erik Landfeldt, Michelle Eagle, Volker Straub, Hanns Lochmüller, Katharine Bushby, Peter Lindgren
Published 2017-04-01
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How Can a Clinical Data Modelling Tool Be Used to Represent Data Items of Relevance to Paediatric Clinical Trials? Learning from the Conect4children (c4c) Consortium by Chima Amadi, Rebecca Leary, Avril Palmeri, Victoria Hedley, Anando Sen, Rahil Qamar Siddiqui, Dipak Kalra, Volker Straub
Published 2022-02-01
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Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice by Zoe White, Zeren Sun, Elodie Sauge, Dan Cox, Graham Donen, Dmitri Pechkovsky, Volker Straub, Gordon A. Francis, Pascal Bernatchez
Published 2022-11-01
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Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials by Tahseen Mozaffar, Lionel Riou França, Jérôme Msihid, Pragya Shukla, Irina Proskorovsky, Tianyue Zhou, Magali Periquet, Kristina An Haack, Laurence Pollissard, Volker Straub
Published 2024-09-01
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Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy? by Claire L Wood, Kieren G Hollingsworth, Edrina Bokaie, Eric Hughes, Robert Muni-Lofra, Anna Mayhew, Rod T Mitchell, Michela Guglieri, Joseph McElvaney, Timothy D Cheetham, Volker Straub
Published 2023-10-01
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Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. by Anna Rajab, Volker Straub, Liza J McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke
Published 2010-03-01
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Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy by Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik Niks, Roula Tsonaka, Anja Persson, Annemieke Aartsma‐Rus, Peter Nilsson, Cristina Al‐Khalili Szigyarto, Pietro Spitali
Published 2020-04-01
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Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. by Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni
Published 2013-01-01
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A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse by Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Published 2020-02-01
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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism by Peter Meinke, Alastair R.W. Kerr, Rafal Czapiewski, Jose I. de las Heras, Charles R. Dixon, Elizabeth Harris, Heike Kölbel, Francesco Muntoni, Ulrike Schara, Volker Straub, Benedikt Schoser, Manfred Wehnert, Eric C. Schirmer
Published 2020-01-01
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Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT) by Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Published 2020-02-01
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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease by Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Published 2020-01-01
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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy by Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub
Published 2017-09-01
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Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na‐MRI in Dysferlinopathy and Healthy Controls by Mary A. Neal, Carla F. Bolano‐Diaz, Mark Richardson, Jassi Michell‐Sodhi, Robert Muni‐Lofra, Meredith K. James, Kieren G. Hollingsworth, Heather Hilsden, Ian Wilson, Andrew M. Blamire, Volker Straub, Peter E. Thelwall, Jordi Diaz‐Manera
Published 2025-02-01
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The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy by Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni
Published 2021-01-01
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Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness by Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub
Published 2017-11-01
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