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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Friedreich's ataxia is the most common inherited ataxia. Ninety‐six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remainingExpand
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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
The most common mutation causing Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease, is the hyperexpansion of a polymorphic GAA triplet repeat localized within an Alu sequenceExpand
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Sticky DNA, a Self-associated Complex Formed at Long GAA·TTC Repeats in Intron 1 of the Frataxin Gene, Inhibits Transcription*
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by the expansion of GAA·TTC repeats in the first intron of the frataxin (X25) gene. FRDA patients carrying twoExpand
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Inhibitory Effects of Expanded GAA·TTC Triplet Repeats from Intron I of the Friedreich Ataxia Gene on Transcription and Replicationin Vivo *
Friedreich ataxia (FRDA) is associated with the expansion of a GAA·TTC triplet repeat in the first intron of the frataxin gene, resulting in reduced levels of frataxin mRNA and protein. ToExpand
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Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion
We studied genotype‐phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three groups of patients with atypical clinical presentations, including 44 AcadianExpand
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Oncogenic ras-driven cancer cell vesiculation leads to emission of double-stranded DNA capable of interacting with target cells.
Cell free DNA is often regarded as a source of genetic cancer biomarkers, but the related mechanisms of DNA release, composition and biological activity remain unclear. Here we show that ratExpand
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Oncogenic extracellular vesicles in brain tumor progression
The brain is a frequent site of neoplastic growth, including both primary and metastatic tumors. The clinical intractability of many brain tumors and their distinct biology are implicitly linked toExpand
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  • Open Access
Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo
Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosomeExpand
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  • Open Access
Diversity of ARSACS mutations in French-Canadians.
BACKGROUND The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia ofExpand
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  • Open Access
Cancer Cells Induced to Express Mesenchymal Phenotype Release Exosome-like Extracellular Vesicles Carrying Tissue Factor*
Background: Cross-talk of oncogenic and differentiation pathways in cancer coagulopathy is poorly understood. Results: EGFR activation and blockade of E-cadherin in cancer cell lines induceExpand
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  • Open Access