Stephanie L. Sottile

MFN2 mutations cause severe phenotypes in most patients with CMT2A

M. Shy, M. Davis, S. Feely, 2011, Neurology.

Charcot‐marie‐tooth disease subtypes and genetic testing strategies

M. Shy, S. Feely, S. Sottile, 2011, Annals of neurology.

PMP22 expression in dermal nerve myelin from patients with CMT1A.

I. Katona, Xingyao Wu, M. Shy, 2009, Brain : a journal of neurology.

Enabled plays key roles in embryonic epithelial morphogenesis in Drosophila

Mark Peifer, Frank B Gertler, Julie Gates, 2007, Development.

Strategy for genetic testing in Charcot-Marie-Disease

M. Shy, S. Feely, S. Sottile, 2011, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.