D. H. Jones

SEPN1-related myopathies

M. Main, M. Pane, E. Mercuri, 2011, Neurology.

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

T. Cooper, A. Roses, S. Tapscott, 2000, Neurology.

A pilot randomised controlled trial of a home-based exercise programme aimed at improving endurance and function in adults with neuromuscular disorders

H. Dawes, D. Wade, C. Elsworth, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.

Susan C. Brown, E. Mercuri, K. Bushby, 2004, Neuropediatrics.