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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
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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…
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National Institutes of Health
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Related topics
Related topics
5 relations
15q11.2
Homo sapiens
NIPA1 gene
Neurogenesis
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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
En-lin Dong
,
Chong Wang
,
+9 authors
Xiang Lin
Molecular Neurodegeneration
2018
Corpus ID: 49583202
BackgroundHereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the…
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2011
2011
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy
K. Svenstrup
,
R. Møller
,
J. Christensen
,
E. Budtz-Jørgensen
,
M. Gilling
,
J. Nielsen
European journal of neurology
2011
Corpus ID: 23777950
Background and purpose: Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous…
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2011
2011
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
Juan Du
,
Yacen Hu
,
+7 authors
Lu Shen
Clinical Neurology and Neurosurgery
2011
Corpus ID: 25938324
2009
2009
Dementia in SPG4 hereditary spastic paraplegia
S. Murphy
,
G. Gorman
,
+6 authors
M. Hutchinson
Neurology
2009
Corpus ID: 16154706
Background: Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked…
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2006
2006
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
F. Crippa
,
C. Panzeri
,
+22 authors
M. Bassi
Archives of neurology
2006
Corpus ID: 36873770
BACKGROUND Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive…
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Highly Cited
2005
Highly Cited
2005
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
P. Hedera
,
O. Eldevik
,
P. Maly
,
S. Rainier
,
J. Fink
Neuroradiology
2005
Corpus ID: 9619629
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by…
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Highly Cited
2003
Highly Cited
2003
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
S. Rainier
,
Jing-Hua Chai
,
D. Tokarz
,
R. Nicholls
,
J. Fink
American journal of human genetics
2003
Corpus ID: 34387115
The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity…
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1999
1999
Subclinical cognitive impairment in autosomal dominant “pure” hereditary spastic paraplegia
E. Reid
,
C. Grayson
,
D. Rubinsztein
,
M. Rogers
,
J. Rubinsztein
Journal of medical genetics
1999
Corpus ID: 35844667
Editor—The hereditary spastic paraplegias are characterised by progressive spasticity, predominantly affecting the lower limbs…
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Highly Cited
1998
Highly Cited
1998
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
O. Heinzlef
,
C. Paternotte
,
+7 authors
J. Hazan
Journal of medical genetics
1998
Corpus ID: 10455928
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by…
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Review
1996
Review
1996
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes
Hisashi Kobayashi
,
Carlos A. Garcia
,
G. Alfonso
,
H. Marks
,
E. Hoffman
Journal of the Neurological Sciences
1996
Corpus ID: 7027597
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