|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The disease, also named dominant adult-onset basal ganglia disease, is associated with a nucleotide insertion that modifies the last 22 amino acids of the ferritin L-chain.
|
15737889 |
2005 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Structural requirements of iron-responsive elements for binding of the protein involved in both transferrin receptor and ferritin mRNA post-transcriptional regulation.
|
2336358 |
1990 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
|
11438811 |
2001 |
|
Neuroferritinopathy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
16116125 |
2005 |
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The finding that mutations in the ferritin light polypeptide (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy (HF) provided a direct connection between abnormal brain iron storage and neurodegeneration.
|
18171923 |
2008 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3.
|
15390032 |
2005 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.
|
9226182 |
1997 |
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.
|
19176363 |
2009 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
|
23421845 |
2013 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Description of a new mutation in the L-ferrin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family.
|
10383191 |
1999 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.
|
22881709 |
2013 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.
|
19117339 |
2009 |
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neuroferritinopathy.
|
24209436 |
2013 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome.
|
19800271 |
2010 |
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.
|
24825732 |
2014 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Given the partial clinical overlap of SCA17, DRPLA and neuroferritinopathy with HD, their causative genes (TBP, ATN1, and FTL, respectively) were also analysed.
|
16858508 |
2006 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (FTL498-499InsTC mutation).
|
19514068 |
2009 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy (MIM 606159, also labeled hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2, NBIA2) is an adult-onset progressive movement disorder caused by mutations in the ferritin light chain gene (FTL1).
|
17101456 |
2006 |
|
Neuroferritinopathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.
|
7493028 |
1995 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (FTL1).
|
22278127 |
2012 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A ferritin light-chain variant related to neuroferritinopathy, in which alanine 96 is replaced with threonine (A96T), was expressed in Escherichia coli, purified, and characterized.
|
30986045 |
2019 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
16116125 |
2005 |