Spastic Paraplegia, Hereditary
|
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 |
Spastic Paraplegia, Hereditary
|
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 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NIPA1 cause autosomal dominant form of hereditary spastic paraplegia.
|
24075313 |
2013 |
Spastic Paraplegia, Hereditary
|
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 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that hereditary spastic paraplegia due to NIPA1 mutations could represent a TDP-43 proteinopathy.
|
22302102 |
2012 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
|
21599812 |
2011 |
Spastic Paraplegia, Hereditary
|
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 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
|
18191948 |
2008 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
|
17928003 |
2008 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
|
17928003 |
2008 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.
|
17166836 |
2007 |
Spastic Paraplegia, Hereditary
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
|
16795073 |
2006 |