Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

by Catalli, Claudio, Morgante, Alessandra, Iraci, Raniero, Rinaldi, Fabrizio, Botta, Annalisa, Novelli, Giuseppe
Published 2010

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

by Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans
Published 2012