Phenotypic heterogeneity of Niemann–Pick disease type C in monozygotic twins

Epigenetic differences arise during the lifetime of monozygotic twins

Mario F. Fraga, Esteban Ballestar, Maria F. Paz et al. · Proceedings of the National Academy of Sciences · 2005 · 3.6K citations · Full text

Medicine, Genetics, Molecular Genetics +16

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Biology +17

Identification of <i>HE1</i> as the Second Gene of Niemann-Pick C Disease

Saule Naureckiene, David E. Sleat, Henry Lackland et al. · Science · 2000 · 829 citations

Life Sciences, Genetics, Molecular Genetics +17

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Marc C. Patterson, Darleen Vecchio, Helena Prady et al. · The Lancet Neurology · 2007 · 610 citations · Full text

Pharmacy, Internal Medicine, Pharmacotherapy +3

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

Carl E.G. Bruder, Arkadiusz Piotrowski, Antoinet A.C.J. Gijsbers et al. · The American Journal of Human Genetics · 2008 · 596 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10