Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

Benjamin B. Roa, Carlos A. Garcia, Ueli Suter et al. · New England Journal of Medicine · 1993 · 333 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers.

Y. Ding, Kurt R. Brunden · Journal of Biological Chemistry · 1994 · 82 citations · Full text

Life Sciences, Biochemistry, Neuroscience +17

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation

Linda J. Valentijn, Robert Ouvrier, Norbert H.A. van den Bosch et al. · Human Mutation · 1995 · 59 citations

Medicine, Genetics, Neurology +14

Identification of a <i>de novo</i> insertional mutation in P_o in a patient with a Déjérine - Sottas syndrome (DSS) phenotype

Bernd Rautenstrauβ, Eva Nelis, H. Grehl et al. · Human Molecular Genetics · 1994 · 49 citations

Life Sciences, Genetics, Molecular Genetics +12

The major peripheral myelin protein zero gene: structure and localization in the cluster of <i>Fcγ</i> receptor genes on human chromosome 1q21.3 – q23

Danielle Pham-Dinh, Yves Fourbil, Francolse Blanquet et al. · Human Molecular Genetics · 1993 · 34 citations

Life Sciences, Genetics, Molecular Genetics +14