Items where Author is "Müller, Clemens R."

2016

Johansen, Stephan and Treves, Susan and Müller, Clemens R. and Mögele, Susanne and Schneiderbanger, Daniel and Roewer, Norbert and Schuster, Frank. (2016) Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. Neuromuscular Disorders, 26 (1). pp. 21-25.

2009

Clemen, Christoph S. and Fischer, Dirk and Reimann, Jens and Eichinger, Ludwig and Müller, Clemens R. and Müller, Harald D. and Goebel, Hans H. and Schröder, Rolf. (2009) How much mutant protein is needed to cause a protein aggregate myopathy in vivo? : Lessons from an exceptional desminopathy. Human mutation : variations, databases, and diseases, Vol. 30 , E490-9.

2007

Zhou, Haiyan and Jungbluth, Heinz and Sewry, Caroline A. and Feng, Lucy and Bertini, Enrico and Bushby, Kate and Straub, Volker and Roper, Helen and Rose, Michael R. and Brockington, Martin and Kinali, Maria and Manzur, Adnan and Robb, Stephanie and Appleton, Richard and Messina, Sonia and D'Amico, Adele and Quinlivan, Ros and Swash, Michael and Müller, Clemens R. and Brown, Susan and Treves, Susan and Muntoni, Francesco. (2007) Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain, 130 (8). pp. 2024-2036.

2006

Ducreux, Sylvie and Zorzato, Francesco and Ferreiro, Ana and Jungbluth, Heinz and Muntoni, Francesco and Monnier, Nicole and Müller, Clemens R. and Treves, Susan. (2006) Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochemical Journal, 395 (2). pp. 259-266.

2003

Zorzato, Francesco and Yamaguchi, Naohiro and Xu, Le and Meissner, Gerhard and Müller, Clemens R. and Pouliquin, Pierre and Muntoni, Francesco and Sewry, Caroline and Girard, Thierry and Treves, Susan. (2003) Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Human Molecular Genetics, 12 (4). pp. 379-388.