Monday, August 19, 2013

Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation

Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation. Provvidenza Maria Abruzzo, Marina Marini, Alessandra Bolotta, Gemma Malisardi, Stefano Manfredini, Alessandro Ghezzo, Antonella Pini, Gianluca Tasco, and Rita Casadio. BioMed Research International.

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Epigenetic modifications in trinucleotide repeat diseases

Epigenetic modifications in trinucleotide repeat diseases. Marguerite V. Evans-Galea, Anthony J. Hannan, Nissa Carrodus, Martin B. Delatycki, Richard Saffery. Trends in Molecular Medicine, Available online 14 August 2013

REVIEW

Systematic review of available evidence on 11 high-priced inpatient orphan drugs

Systematic review of available evidence on 11 high-priced inpatient orphan drugs. Tim A Kanters, Caroline de Sonneville-Koedoot, W Ken Redekop and Leona Hakkaart. Orphanet Journal of Rare Diseases 2013, 8:124 doi:10.1186/1750-1172-8-124.

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STRUCTURAL INSIGHTS INTO THE FUNCTION OF FRATAXIN

STRUCTURAL INSIGHTS INTO THE FUNCTION OF FRATAXIN . Project Information: STEMMLER, TIMOTHY LOUIS, WAYNE STATE UNIVERSITY,

An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia

An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia. ClinicalTrials.gov.

The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedrich's Ataxia as well as how it may affect other symptoms of Friedrich's Ataxia such as difficulties with balance, walking, or upper arm function.

University of South Florida, Information provided by (Responsible Party): Theresa Zesiewicz, University of South Florida

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds. Michele M.P. Lufino, Ana M. Silva2, Andrea H. NĂ©meth, Javier Alegre-Abarrategui, Angela J. Russell and Richard Wade-Martins. Hum. Mol. Genet. (2013), doi: 10.1093/hmg/ddt370

keywords: Friedreich's ataxia (FRDA), frataxin gene (FXN), cell models, GAA-expanded FXN genomic DNA reporter model, BAC vectors, luciferase.