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Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

Poretti, Andrea ; Häusler, Martin ; von Moers, Arpad ; Baumgartner, Bastian ; Zerres, Klaus ; Klein, Andrea ; Aiello, Chiara ; Moro, Francesca ; Zanni, Ginevra ; Santorelli, Filippo ; Huisman, Thierry ; Weis, Joachim ; Valente, Enza ; Bertini, Enrico ; Boltshauser, Eugen

In: The Cerebellum, 2014, vol. 13, no. 1, p. 79-88

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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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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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Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy

Laporte, Jocelyn ; Guiraud-Chaumeil, Christophe ; Vincent, Marie-Claire ; Mandel, Jean-Louis ; Tanner, Stephan M. ; Liechti-Gallati, Sabina ; Wallgren-Pettersson, Carina ; Dahl, Niklas ; Kress, Wolfram ; Bolhuis, Pieter A. ; Fardeau, Michel ; Samson, Françoise ; Bertini, Enrico

In: Human Molecular Genetics, 1997, vol. 6, no. 9, p. 1505-1511

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