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Irene De Biase | Researchclopedia

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Irene De Biase

University of Utah ORCID

60

Works

1,072

Citations

18

h-index

23

i10-index

Research Topics

Metabolism and Genetic Disorders Mitochondrial Function and Pathology Genetic Neurodegenerative Diseases

Affiliations

Mayo Clinic2019–2019

University of Utah2015–2026

Oklahoma City University2006–2006

ARUP Laboratories (United States)2015–2025

Federico II University Hospital2002–2003

Top Works

Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients

Irene De Biase,Astrid Rasmussen,et al.

2007114 citations

Metabolomics and Mass Spectrometry Studies

Peroxisome Proliferator-Activated Receptors

Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription

Irene De Biase,Yogesh K. Chutake,et al.

2009112 citations

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life

Irene De Biase,Astrid Rasmussen,et al.

200784 citations

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model

Rhonda M. Clark,Irene De Biase,et al.

200671 citations

Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2

Fabio Acquaviva,Irene De Biase,et al.

200561 citations

Pms2 Suppresses Large Expansions of the (GAA·TTC)n Sequence in Neuronal Tissues

Rebecka L. Bourn,Irene De Biase,et al.

201256 citations

Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population

Elisa Alonso,Leticia Martínez‐Ruano,et al.

200752 citations

Friedreich ataxia in carriers of unstable borderline GAA triplet‐repeat alleles

Rajesh Sharma,Irene De Biase,et al.

200451 citations

Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease

Astrid Rasmussen,Elisa Alonso,et al.

201046 citations