×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
NIPA1 (nonimprinted in Prader-Willi/Angelman syndrome 1) mutations are known to cause hereditary spastic paraplegia type 6, a neurodegenerative disease that phenotypically overlaps to some extent with amyotrophic lateral sclerosis (ALS).
30342764
2019
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
CausalMutation
disease
CLINVAR
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
28832565
2017
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
Mutations in the NIPA1 cause autosomal dominant form of hereditary spastic paraplegia .
24075313
2013
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype.
22378146
2012
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
These findings suggest that hereditary spastic paraplegia due to NIPA1 mutations could represent a TDP-43 proteinopathy.
22302102
2012
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
21599812
2011
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
Biomarker
disease
BEFREE
Translocation of NIPA genes were found in patients with Prader-Willi syndrome, and loss-of-function of the NIPA1 gene was identified in hereditary spastic paraplegia .
19738379
2009
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
18191948
2008
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia .
17928003
2008
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
LHGDN
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
17928003
2008
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
NIPA1(SPG6 ), the basis for autosomal dominant form of hereditary spastic paraplegia , encodes a functional Mg2+ transporter.
17166836
2007
×
Entrez Id:
123606
Gene Symbol:
NIPA1
NIPA1
0.200
GeneticVariation
disease
BEFREE
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia .
16795073
2006