Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011
Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007
Clinicopath Conf, Charcot-Marie-Tooth Disease Type 2, with Aides Pupil and a Mutation in MPZ Gene
NEJM 354:2584-2592, Case 18-2006, 2006
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
The Molecular Pathogenesis of Alzheimer's Disease:Clinical Prospects
Lancet 340:1512-1515, Murphy,M., 1992
Molecular Genetics of Amyloid Neuropathy in Europe
Lancet 1:524-526, Holt,I.J.,et al, 1989