J. Gorospe

DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy

J. Kendrick‐Jones, E. Hoffman, S. Hamed, 2005, Clinical genetics.

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

H. Morizono, A. Vanderver, R. Schiffmann, 2011, Neurology.

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation

J. Trent, D. Stephan, E. Hoffman, 2004, Neurology.

Mutations in the sarcoglycan genes in patients with myopathy.

E. Hoffman, C. Angelini, A. Berardinelli, 1997, The New England journal of medicine.

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

L. Kunkel, R. Finkel, E. Hoffman, 1996, Human molecular genetics.

Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy

D. Bredt, E. Hoffman, M. F. Peters, 1996, The Journal of experimental medicine.

Decreased platelet expression of myosin regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction and CBFA2/RUNX1 mutation: insights from platelet expression profiling

E. Hoffman, E. Hoffman, A. Rao, 2007, Journal of thrombosis and haemostasis : JTH.

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

A. Federico, M. Dotti, P. Galluzzi, 2009, Journal of Neurology.