Condition: Action Myoclonus-Renal Failure Syndrome


rs121909118 in SCARB2 gene and Action Myoclonus-Renal Failure Syndrome PMID 18308289 2008 Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

PMID 21670406 2011 Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.

PMID 18424452 2008 A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.

PMID 23659519 2014 Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.

PMID 19847901 2009 SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

PMID 21796727 2011 A mutation in SCARB2 is a modifier in Gaucher disease.

PMID 19454373 2009 Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.

PMID 22032306 2011 Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.

PMID 22767442 2012 A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.

PMID 24339182 2014 A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

PMID 23225201 2012 A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

PMID 24620919 2014 Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.

PMID 24485911 2014 A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity.

PMID 23325613 2013 A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.

rs886041072 in SCARB2;FAM47E gene and Action Myoclonus-Renal Failure Syndrome PMID 22032306 2011 Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.