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

Four Individuals with a Homozygous Mutation in Exon 1f of the <i>PLEC</i> Gene and Associated Myasthenic Features

by Magdalena Mroczek, Hacer Durmus, Ana Töpf, Yesim Parman, Volker Straub
Published 2020-06-01

Title not available

by Erik Landfeldt, Michelle Eagle, Volker Straub, Hanns Lochmüller, Katharine Bushby, Peter Lindgren
Published 2017-04-01

Mortality cost of Duchenne muscular dystrophy

by Erik Landfeldt, Michelle Eagle, Volker Straub, Hanns Lochmüller, Katharine Bushby, Peter Lindgren
Published 2017-04-01

Measurement of salivary testosterone in adolescents and young men with Duchenne muscular dystrophy

by Yolanda Alins Sahun, Tim Cheetham, Christopher Boot, Volker Straub, Claire L. Wood
Published 2021-04-01

Beta-blockers, left and right ventricular function, and in-vivo calcium influx in muscular dystrophy cardiomyopathy.

by Alison Blain, Elizabeth Greally, Steve Laval, Andrew Blamire, Volker Straub, Guy A MacGowan
Published 2013-01-01

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

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

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

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

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

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

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

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

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

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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by Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser
Published 2019-04-01

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9

by Lindsay B. Murphy, Olivia Schreiber‐Katz, Karen Rafferty, Agata Robertson, Ana Topf, Tracey A. Willis, Marcel Heidemann, Simone Thiele, Laurence Bindoff, Jean‐Pierre Laurent, Hanns Lochmüller, Katherine Mathews, Claudia Mitchell, John Herbert Stevenson, John Vissing, Lacey Woods, Maggie C. Walter, Volker Straub
Published 2020-05-01

Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies

by Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van denBergen, Zaïda Koeks, Hermien E. Kan, Melissa T. Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni, Cristina Al‐Khalili‐Szigyarto, Marleen J.A. Koel‐Simmelink, Charlotte E. Teunissen, Hanns Lochmüller, Erik H. Niks, Annemieke Aartsma‐Rus
Published 2018-08-01

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies

by Enrico Bugiardini, Jasper M. Morrow, Sachit Shah, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Michael G. Hanna, Volker Straub, Tarek A. Yousry, Tarek A. Yousry, Tarek A. Yousry
Published 2018-06-01