Spastic Paraplegia 39, Autosomal Recessive

Known as: NTE-Related Motor Neuron Disorder, NTEMND, SPG39 
 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal recessive inheritanceDistal amyotrophyPNPLA6 geneSpastic Paraplegia

Broader (1)

Spastic Paraplegia, Hereditary

Papers overview

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2016
2016
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
The hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative diseases. Here, we… (More)
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2016
2016
EFFECT OF COOKING ON THE CHEMICAL COMPOSITION AND ANTIOXIDANT CAPACITY OF NATIVE POTATOES (Solanum tuberosum) OF ECUADOR
  • Congreso, Internacional, +23 authors . Food Sci Technol Res
  • 2016
In Ecuador there are about 400 cultivated varieties of native potatoes. These products have antioxidants with a fundamental roll… (More)
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2013
2013
Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort
We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary… (More)
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2013
2013
Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish
Mutations in patatin-like phospholipase domain containing 6 (PNPLA6), also known as neuropathy target esterase (NTE) or SPG39… (More)
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Review
2012
Review
2012
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are… (More)
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2010
2010
Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties.
Neuropathy target esterase (NTE) is a phospholipase/lysophospholipase associated with organophosphorus (OP) compound-induced… (More)
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2010
2010
Exceptionally large positive and negative anisotropic thermal expansion of an organic crystalline material.
In general, the relatively modest expansion experienced by most materials on heating is caused by increasing anharmonic… (More)
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2008
2008
Swiss Cheese, a protein involved in progressive neurodegeneration, acts as a noncanonical regulatory subunit for PKA-C3.
The Drosophila Swiss Cheese (SWS) protein and its vertebrate ortholog Neuropathy Target Esterase (NTE) are required for neuronal… (More)
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2008
2008
There might be more to SPG4!
SPG4-related hereditary spastic paraplegia is associated with posterior fossa abnormalities that are part of the Dandy–Walker… (More)
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2006
2006
Magnetovolume Effect and Negative Thermal Expansion in Mn 3 ( Cu 1 x Ge x )
Metallic manganese nitrides Mn3AN (A 1⁄4 Zn, Ga, etc) are well-known for their large magnetovolume effect (MVE), i.e., a… (More)
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