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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.
2018
2018
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
BackgroundHereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the… 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
2009
2009
Dementia in SPG4 hereditary spastic paraplegia
Background: Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked… Expand
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2006
2006
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive… Expand
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Highly Cited
2005
Highly Cited
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
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
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… Expand
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… Expand
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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