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Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations

Bachmann, Christoph ; Jungbluth, Heinz ; Muntoni, Francesco ; Manzur, Adnan Y. ; Zorzato, Francesco ; Treves, Susan

In: Human Molecular Genetics, 2017, vol. 26, no. 2, p. 320-332

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Characterization of recessive RYR1 mutations in core myopathies

Zhou, Haiyan ; Yamaguchi, Naohiro ; Xu, Le ; Wang, Ying ; Sewry, Caroline ; Jungbluth, Heinz ; Zorzato, Francesco ; Bertini, Enrico ; Muntoni, Francesco ; Meissner, Gerhard ; Treves, Susan

In: Human Molecular Genetics, 2006, vol. 15, no. 18, p. 2791-2803

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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

Brockington, Martin ; Yuva, Yeliz ; Prandini, Paola ; Brown, Susan C. ; Torelli, Silvia ; Benson, Matthew A. ; Herrmann, Ralf ; Anderson, Louise V.B. ; Bashir, Rumaisa ; Burgunder, Jean-Marc ; Fallet, Shari ; Romero, Norma ; Fardeau, Michel ; Straub, Volker ; Storey, Gillian ; Pollitt, Christine ; Richard, Isabelle ; Sewry, Caroline A. ; Bushby, Kate ; Voit, Thomas ; Blake, Derek J. ; Muntoni, Francesco

In: Human Molecular Genetics, 2001, vol. 10, no. 25, p. 2851-2859

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Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

Rokach, Ori ; Sekulic-Jablanovic, Marijana ; Voermans, Nicol ; Wilmshurst, Jo ; Pillay, Komala ; Heytens, Luc ; Zhou, Haiyan ; Muntoni, Francesco ; Gautel, Mathias ; Nevo, Yoram ; Mitrani-Rosenbaum, Stella ; Attali, Ruben ; Finotti, Alessia ; Gambari, Roberto ; Mosca, Barbara ; Jungbluth, Heinz ; Zorzato, Francesco ; Treves, Susan

In: Human Molecular Genetics, 2015, vol. 24, no. 16, p. 4636-4647

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Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease

Treves, Susan ; Vukcevic, Mirko ; Jeannet, Pierre-Yves ; Levano, Soledad ; Girard, Thierry ; Urwyler, Albert ; Fischer, Dirk ; Voit, Thomas ; Jungbluth, Heinz ; Lillis, Sue ; Muntoni, Francesco ; Quinlivan, Ros ; Sarkozy, Anna ; Bushby, Kate ; Zorzato, Francesco

In: Human Molecular Genetics, 2011, vol. 20, no. 3, p. 589-600

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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

Tilgen, Nikola ; Zorzato, Francesco ; Halliger-Keller, Birgit ; Muntoni, Francesco ; Sewry, Caroline ; Palmucci, Laura M. ; Schneider, Christiane ; Hauser, Erwin ; Lehmann-Horn, Frank ; Müller, Clemens R. ; Treves, Susan

In: Human Molecular Genetics, 2001, vol. 10, no. 25, p. 2879-2887

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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Zhou, Haiyan ; Jungbluth, Heinz ; Sewry, Caroline A. ; Feng, Lucy ; Bertini, Enrico ; Bushby, Kate ; Straub, Volker ; Roper, Helen ; Rose, Michael R. ; Brockington, Martin ; Kinali, Maria ; Manzur, Adnan ; Robb, Stephanie ; Appleton, Richard ; Messina, Sonia ; D'Amico, Adele ; Quinlivan, Ros ; Swash, Michael ; Müller, Clemens R. ; Brown, Susan ; Treves, Susan ; Muntoni, Francesco

In: Brain, 2007, vol. 130, no. 8, p. 2024-2036

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Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor

Zorzato, Francesco ; Yamaguchi, Naohiro ; Xu, Le ; Meissner, Gerhard ; Müller, Clemens R. ; Pouliquin, Pierre ; Muntoni, Francesco ; Sewry, Caroline ; Girard, Thierry ; Treves, Susan

In: Human Molecular Genetics, 2003, vol. 12, no. 4, p. 379-388

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