|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Thus, the iPSC-derived FRDA cardiomyocytes exhibit various molecular defects characteristic for cellular models of cardiomyopathy that can be corrected by genome editing of the expanded GAA repeats.
|
31446150 |
2019 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Friedreich's Ataxia (FRDA) is a neurodegenerative disorder, characterized by degeneration of dorsal root ganglia, cerebellum and cardiomyopathy.
|
30333728 |
2018 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations or malfunctions affecting the iron-sulfur biogenesis machinery have been linked with an increasing amount of disorders such as Friedreich's ataxia and various cardiomyopathies.
|
29511832 |
2018 |
|
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
If this is the case, miRNAs can be used to characterize phenotypic variation in FRDA and stratify patients' risk of cardiomyopathy.
|
28701783 |
2017 |
|
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We assessed the therapeutic efficacy of NMN and the role of SIRT3 in the Friedreich's ataxia cardiomyopathy mouse model (FXN-KO).
|
28724806 |
2017 |
|
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A conditional mouse model with complete frataxin deletion in cardiac and skeletal muscle (Mck-Cre-Fxn(L3/L-) mice) recapitulates most features of FRDA cardiomyopathy, albeit with a more rapid and severe course.
|
24705334 |
2014 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Frataxin is a highly conserved mitochondrial protein whose deficiency in humans results in Friedreich's ataxia (FRDA), an autosomal recessive disorder characterized by progressive ataxia and cardiomyopathy.
|
20001966 |
2010 |
|
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We performed microarray analysis of heart and skeletal muscle in a mouse model of frataxin deficiency, and found molecular evidence of increased lipogenesis in skeletal muscle, and alteration of fiber-type composition in heart, consistent with insulin resistance and cardiomyopathy, respectively.
|
19376812 |
2009 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Deficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating spinocerebellar ataxia and cardiomyopathy.
|
18725397 |
2008 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Frataxin insufficiency leads to mitochrondrial dysfunction and progressive neurodegeneration, along with scoliosis, diabetes and cardiomyopathy.
|
17826840 |
2007 |
|
Cardiomyopathies
|
0.200 |
AlteredExpression
|
group |
BEFREE |
Friedreich ataxia is a human neurodegenerative and myocardial disease caused by decreased expression of the mitochondrial protein frataxin.
|
16510442 |
2006 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Insufficient frataxin, a nuclear encoded mitochondrial protein, leads to the progressive neurodegeneration and cardiomyopathy characteristic of FRDA.
|
11121484 |
2000 |
|
Cardiomyopathies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Subjects with normal frataxin alleles had no evidence of cardiomyopathy.
|
9922348 |
1999 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%.
|
9463307 |
1998 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
|
9339708 |
1997 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
BEFREE |
Friedreich ataxia (FRA) is an autosomal recessive neuromuscular disorder in which nearly all affected homozygotes eventually develop significant cardiomyopathy and a substantial proportion also develop diabetes mellitus.
|
3209055 |
1988 |
|
Cardiomyopathies
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|