Items where Author is "Jungbluth, Heinz"

2016

Lopez, Rubén J. and Byrne, Susan and Vukcevic, Mirko and Sekulic-Jablanovic, Marijana and Xu, Lifen and Brink, Marijke and Alamelu, Jay and Voermans, Nicol and Snoeck, Marc and Clement, Emma and Muntoni, Francesco and Zhou, Haiyan and Radunovic, Aleksandar and Mohammed, Shehla and Wraige, Elizabeth and Zorzato, Francesco and Treves, Susan and Jungbluth, Heinz. (2016) An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science Signaling, 9 (435). ra68.

Treves, Susan and Jungbluth, Heinz and Voermans, Nicol and Muntoni, Francesco and Zorzato, Francesco. (2016) Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives. Seminars in Cell and Developmental Biology, 64. pp. 201-212.

Jungbluth, Heinz and Ochala, Julien and Treves, Susan and Gautel, Mathias. (2016) Current and future therapeutic approaches to the congenital myopathies. Seminars in Cell and Developmental Biology, 64. pp. 191-200.

2009

Ghassemi, Farshid and Vukcevic, Mirko and Xu, Le and Zhou, Haiyan and Meissner, Gerhard and Muntoni, Francesco and Jungbluth, Heinz and Zorzato, Francesco and Treves, Susan. (2009) A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium, 45 (2). pp. 192-197.

2008

Treves, Susan and Jungbluth, Heinz and Muntoni, Francesco and Zorzato, Francesco. (2008) Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Current Opinion in Pharmacology, 8 (3). pp. 319-326.

2007

Jungbluth, Heinz and Zhou, Haiyan and Sewry, Caroline A. and Robb, Stephanie and Treves, Susan and Bitoun, Marc and Guicheney, Pascale and Buj-Bello, Anna and Bönnemann, Carsten and Muntoni, Francesco. (2007) Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders , 17 (4). pp. 338-345.

Zorzato, Francesco and Jungbluth, Heinz and Zhou, Haiyan and Muntoni, Francesco and Treves, Susan. (2007) Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life, 59 (1). pp. 14-20.

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

Zhou, Haiyan and Yamaguchi, Naohiro and Xu, Le and Wang, Ying and Sewry, Caroline and Jungbluth, Heinz and Zorzato, Francesco and Bertini, Enrico and Muntoni, Francesco and Meissner, Gerhard and Treves, Susan. (2006) Characterization of recessive RYR1 mutations in core myopathies. Human Molecular Genetics, 15 (18). pp. 2791-2803.

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.

2004

Jungbluth, Heinz and Beggs, Alan and Bönnemann, Carsten and Bushby, Kate and Ceuterick-de Groote, Chantal and Estournet-Mathiaud, Brigitte and Goemans, Nathalie and Guicheney, Pascale and Lescure, Alain and Lunardi, Joël and Muntoni, Francesco and Quinlivan, Ros and Sewry, Caroline and Straub, Volker and Treves, Susan and Ferreiro, Ana. (2004) 111th ENMC International Workshop on Multi-minicore Disease : 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands : workshop report. Neuromuscular Disorders, 14 (11). pp. 754-766.