FAQ

NIPA1 wt Allele

Known as: Non Imprinted In Prader-Willi/Angelman Syndrome 1 wt Allele, Spastic Paraplegia 6 (Autosomal Dominant) Gene, MGC35570 
Human NIPA1 wild-type allele is located in the vicinity of 15q11.2 and is approximately 43 kb in length. This allele, which encodes non-imprinted in… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1996-2013
01219962013

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5 relations
15q11.2Homo sapiensNIPA1 geneNeurogenesis
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Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
NIPA1 wt Allele
Homo sapiens
Neurogenesis
15q11.2
NIPA1 gene
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model
Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity and weakness in the lower extremities that… (More)
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2012
2012
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation
Mutations in NIPA1 (non-imprinted in Prader–Willi/Angelman syndrome) have been described as a cause of autosomal dominant… (More)
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2011
2011
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
BACKGROUND AND PURPOSE   Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous… (More)
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2011
2011
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.
BACKGROUND Hereditary spastic paraplegia type 6 (SPG6) is caused by mutations in the NIPA1 gene, this is a rare cause of HSP… (More)
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2008
2008
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared… (More)
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2006
2006
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
Sirs, SPG6 is an autosomal dominant (AD) form of hereditary spastic paraplegia (HSP), a clinically and genetically heterogeneous… (More)
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2005
2005
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by… (More)
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2004
2004
Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.
We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic… (More)
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2000
2000
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin.
The autosomal dominant hereditary spastic paraplegias (AD-HSP) are a heterogeneous group of degenerative disorders of the central… (More)
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Review
1996
Review
1996
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.
Familial spastic paraplegia (FSP or SPG) is a genetically heterogeneous group of upper motor neuron syndromes. To date, two… (More)
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