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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… Expand
National Institutes of Health

Related topics

Related topics

5 relations
15q11.2Homo sapiensNIPA1 geneNeurogenesis
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… Expand
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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… Expand
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2009
2009
Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and neuropathologic evidenceSYMBOL
Background:Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked… Expand
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2006
2006
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12
Sir: Hereditary spastic paraplegia (SPG) is clinically heterogeneous with both pure and complicated forms. The complicated forms… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
2003
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity… Expand
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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… Expand
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1998
1998
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by… Expand
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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… Expand
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1996
1996
Pure Familial Spastic Paraplegia: Clinical and Genetic Analysis of Nine Belgian Pedigrees
We ascertained 9 multigeneration Belgian families with pure dominant spastic paraplegia (SPG) for clinical and genetic studies… Expand
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