Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene.
|
30637453 |
2019 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review.
|
28099355 |
2017 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
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
|
0.400 |
Biomarker
|
disease |
MGD |
Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins.
|
27638887 |
2016 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins.
|
27638887 |
2016 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
|
26671083 |
2015 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
|
26201691 |
2015 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
REEP1 is an ER protein mutated in hereditary spastic paraplegia (HSP) and hereditary motor neuropathy (HMN).
|
24478229 |
2014 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons.Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1.
|
24051371 |
2013 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function REEP1 mutations have previously been identified in dominant hereditary spastic paraplegia (HSP), a disease associated with upper-motoneuron pathology.
|
22703882 |
2012 |
Spastic Paraplegia, Hereditary
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
|
20718791 |
2011 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP).
|
19034539 |
2009 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
|
18321925 |
2008 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
|
18321925 |
2008 |
Spastic Paraplegia, Hereditary
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.
|
16826527 |
2006 |