Pelizaeus-Merzbacher Disease

Known as: Pelizaeus-Merzbacher Brain Sclerosis, Pelizaeus Merzbacher disease, Pelizaeus Merzbacher Sclerosis, Brain 
A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this… (More)
National Institutes of Health

Papers overview

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Review
2006
Review
2006
Pelizaeus-Merzbacher disease (PMD) and the allelic spastic paraplegia type 2 (SPG2) arise from mutations in the X-linked gene… (More)
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2004
2004
A girl of non-Jewish origin, with non-contributory family history, at the age of 3 developed progressive mental deterioration, an… (More)
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Highly Cited
2002
Highly Cited
2002
The unfolded protein response (UPR) is a eukaryotic signaling pathway linking protein flux through the endoplasmic reticulum to… (More)
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Review
2002
Review
2002
Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the… (More)
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Review
1999
Review
1999
In 1885, Pelizaeus described 5 boys in a single family with nystagmus, spastic quadriparesis, ataxia, and delay in cognitive… (More)
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Highly Cited
1998
Highly Cited
1998
Pelizaeus-Merzbacher disease (PMD) is a dysmyelinating disease resulting from mutations, deletions, or duplications of the… (More)
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Highly Cited
1996
Highly Cited
1996
Pelizaeus–Merzbacher disease (PMD) is a leukodystrophy linked to the proteolipid protein gene (PLP). We report a cellular basis… (More)
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Highly Cited
1994
Highly Cited
1994
Three forms of X–linked spastic paraplegia (SPG) have been defined. One locus (SPG 1) maps to Xq28 while two clinically distinct… (More)
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Review
1993
Review
1993
Pelizaeus-Merzbacher disease (PMD) has been recognized as a clinical entity for more than a century. It has gradually become… (More)
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1987
1987
Pelizaeus-Merzbacher disease (PMD) is a rare, slowly progressive, sex-linked demyelinating disorder generally classified with the… (More)
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