Mutations in the x-linked myelin proteolipid protein 1 gene (PLP1) cause the heterogeneous
syndromes of Pelizaeus Merzbacher disease (PMD) and Spastic paraplegia type 2 (SPG2) …

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 rumpshaker mutation of the murine myelin proteolipid protein 1 (Plp1) gene generates
misfolded PLP/DM20 protein, resulting in dysmyelination, increased oligodendrocyte …

Pelizaeus-Merzbacher disease (PMD) and the allelic spastic paraplegia type 2 (SPG2) arise
from mutations in the X-linked gene encoding myelin proteolipid protein (PLP). Analysis of …

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 …

Alterations in the myelin proteolipid protein gene (PLP1) may result in rare X-linked
disorders in human such as Pelizaeus-Merzbacher disease and spastic paraplegia type 2 …

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 …

Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked
developmental defects of myelin formation affecting the central nervous system (CNS). They …

Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia type 2
(SPG2), are among the best-characterized dysmyelinating leukodystrophies of the central …