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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… 
National Institutes of Health

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Related topics

5 relations
15q11.2Homo sapiensNIPA1 geneNeurogenesis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… 
2011
2011
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
2008
2008
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots
2007
2007
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… 
2006
2006
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)
We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an… 
2002
2002
Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
Hereditary spastic paraplegia (HSP) includes a heterogeneous group of degenerative disorders of the central motor system… 
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… 
1999
1999
Subclinical cognitive impairment in autosomal dominant “pure” hereditary spastic paraplegia
Editor—The hereditary spastic paraplegias are characterised by progressive spasticity, predominantly affecting the lower limbs… 
Highly Cited
1998
Highly Cited
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… 
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… 
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