Global ETD Search
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Showing 1 to 5 of 5 for “"Pelizaeus Merzbacher disease"”.
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Application Of Magnetic Resonance Imaging To Understanding The Pathogenesis Of The X-Linked Leukodystrophy Pelizaeus-Merzbacher Disease
… gene in man cause a spectrum of neurological disease, ranging from the severe Pelizaeus-Merzbacher disease (PMD), that typically begins during infancy with nystagmus, seizures and hypotonia and evolves into spastic quadriparesis, cognitive impairment and ataxia, to ¡¥pure¡¦ spastic …
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Transgenic complementation of rumpshaker with wild type proteolipid protein
… gene (PLP1) cause the heterogeneous syndromes of Pelizaeus Merzbacher disease (PMD) and Spastic paraplegia type 2(SPG2) in man (Hudson et al., 2004). A single base change mutation in our spontaneous mouse model rumpshaker (Plpjp-rsh)(Ile186Thr) (Schneider et al., 1992) generates a misfolded …
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Imaging Myelin Basic Protein expression in a model of remyelination by Magnetic Resonance Imaging using an Organic Anion Transporter Protein gene reporter system.
Demyelination occurs in several CNS diseases. If demyelinated axons are not remyelinated they become vulnerable to irreversible degeneration. There is, therefore, a clinical need for therapies that enhance remyelination. This can be achieved by 1) pharmacologically targeting endogenous …
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The effects of increased Plp1 gene dosage on expression and processing of myelin proteins
… protein 1 (PLP1), an X-linked gene causes Pelizaeus-Merzbacher disease (PMD) in humans. The most frequent cause of PMD is the duplication of PLP1, which encodes the major myelin membrane protein of the human CNS. The #66 transgenic mice with extra copies of the wild type Plp1 gene are a …
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Functional heterogeneity of oligodendrocyte progenitor cells in the central nervous system
… implicated in the pathophysiology of various diseases including not only demyelinating diseases (eg. Multiple Sclerosis (MS) or Pelizaeus-Merzbacher disease (PMD)), but also psychiatric disorders (eg. schizophrenia or Rett syndrome (RTT)). Regardless of the type of disease, understanding the …