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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

Consortium of Swiss Academic Libraries

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

Consortium of Swiss Academic Libraries

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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