Mutations of the proteolipid protein gene (PLP1) cause Pelizaeus-Merzbacher disease
(PMD) and Spastic paraplegia type 2 (SPG2). The rumpshaker mutation is associated with …

The rumpshaker mutation of the X‐linked myelin proteolipid protein (PLP1) gene causes
spastic paraplegia type 2 or a mild form of Pelizaeus‐Merzbacher disease in man. The …

The PLP1/Plp gene encodes proteolipid protein (PLP) and DM20, the major central nervous
system myelin proteins. Mutations in the PLP1/Plp gene cause dysmyelinating disorders in …

Mutations of the proteolipid protein (Plp) gene cause a generalized central nervous system
(CNS) myelin deficit in Pelizaeus‐Merzbacher disease of man and various tremor …

The rumpshaker mutation of the proteolipid protein (Plp) gene causes dysmyelination in
man and mouse. We show that the phenotype in the mouse depends critically on the genetic …

Research on the pathophysiology and possible therapy of Pelizaeus–Merzbacher disease
(PMD) has been greatly aided by the availability of a significant number of models known as …

Pelizaeus‐Merzbacher disease/X‐linked spastic paraplegia (PMD/SPG2) comprises a
spectrum of diseases that range from severe to quite mild. The reasons for the variation in …

Mutations of the major myelin gene, proteolipid protein (Plp), cause Pelizaeus‐Merzbacher
disease and some forms of spastic paraplegia in man and dysmyelinating phenotypes in …

Proteolipid protein (PLP) and its smaller isoform DM20 constitute the major myelin proteins
of the CNS. Mutations of the X‐linked Plp gene cause the heterogeneous syndromes of …

Abstract The proteolipid protein 1 (PLP1) gene encodes the two major proteins of the central
nervous system (CNS) myelin: PLP and DM20. PLP1 gene mutations are associated with a …