|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Neuroferritinopathy
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element.
|
9414313 |
1998 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
|
11438811 |
2001 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
We report a family of French Canadian and Dutch ancestry with hereditary ferritinopathy (neuroferritinopathy) and a novel mutation (C insertion at nt646-647 in exon 4) in the ferritin light chain gene, resulting in a longer than normal protein.
|
15835264 |
2005 |
|
Neuroferritinopathy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
16116125 |
2005 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
16116125 |
2005 |
|
Neuroferritinopathy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.
|
16116125 |
2005 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD.
|
17970701 |
2007 |
|
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 |
Nucleotide insertions in the ferritin light chain (FTL) polypeptide gene cause hereditary ferritinopathy, a neurodegenerative disease characterized by abnormal accumulation of ferritin and iron in the central nervous system.
|
18755684 |
2008 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the coding sequence of the ferritin light chain (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy, which is characterized by the presence of intracellular inclusion bodies containing the mutant FTL polypeptide and by abnormal accumulation of iron in the brain.
|
19923220 |
2010 |