Hereditary X-Linked Recessive Spastic Paraplegia

Known as: Spastic Paraplegia 2, X-linked Recessive Hereditary Spastic Paraplegia, X Linked Recessive Hereditary Spastic Paraplegia 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1992-2017
02419922017

Papers overview

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2015
2015
BACKGROUND Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic… (More)
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2011
2011
We report an autopsy case of rare adult-onset spastic paraplegia type 2 (SPG2) with a novel missense mutation in exon 7 of the… (More)
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2010
2010
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders… (More)
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2009
2009
The PLP1 gene encodes two protein isoforms (PLP and DM20) which represent the predominant protein portion in myelin of the… (More)
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2006
2006
Missense mutations in the human PLP1 gene lead to dysmyelinating diseases with a broad range of clinical severity, ranging from… (More)
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2006
2006
Mutations of the proteolipid protein gene (PLP1) cause Pelizaeus-Merzbacher disease (PMD) and Spastic paraplegia type 2 (SPG2… (More)
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2006
2006
Mutations in the proteolipid protein 1 (PLP1) gene cause the X-linked dysmyelinating diseases Pelizaeus-Merzbacher disease (PMD… (More)
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2004
2004
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelinating disorder resulting from mutation of the proteolipid protein… (More)
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Highly Cited
2000
Highly Cited
2000
Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked developmental defects of myelin formation… (More)
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1999
1999
Spastic paraplegia type 2 (SPG2) is allelic to Pelizaeus-Merzbacher disease (PMD), with both conditions resulting from mutations… (More)
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