Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A literature review revealed that mutations in the different functional domains of SCARB2 appear to be associated with the phenotype of EPM4.
|
29941711 |
2018 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review.
|
29605618 |
2018 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.
|
27582254 |
2016 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
In humans, LIMP-2 deficiency leads to action myoclonus-renal failure (AMRF) syndrome.
|
26018676 |
2015 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene.
|
24485911 |
2014 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.
|
23659519 |
2014 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SCARB2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (PME) with or without renal failure, the former also being designated action myoclonus-renal failure syndrome.
|
23659519 |
2014 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.
|
24485911 |
2014 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
|
24620919 |
2014 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
|
24339182 |
2014 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
|
23325613 |
2013 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.
|
22767442 |
2012 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
|
23225201 |
2012 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
|
22032306 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features.
|
22032306 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
|
21670406 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
|
21670406 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our patients with SCARB2 mutations showed the clinical and neurophysiologic phenotype of PME, in which epilepsy could be extremely severe, extending the spectrum reported in the typical AMRF syndrome.
|
22050460 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe clinically two sisters with AMRF that resulted from a mutation in the SCARB2 gene.
|
21782476 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features.
|
22032306 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A mutation in SCARB2 is a modifier in Gaucher disease.
|
21796727 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
|
21670406 |
2011 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In contrast to the reduced binding properties of the nonsense mutations, the only missense mutation (H363N) found in AMRF leads to increased binding of beta-GC to LIMP-2, indicating that this highly conserved histidine modifies the affinity of LIMP-2 to its ligand.
|
19933215 |
2010 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
|
19847901 |
2009 |
Action Myoclonus-Renal Failure Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF).
|
19847901 |
2009 |