A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots

A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots. Devin Oglesbee, Karen Sanders, Charles Kroll, Ramanath Majumdar, Amber McDonald, Grazia Isaya, Dimitar Gavrilov, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo, Fred Lorey, Dietrich Matern. 2013 ACMG Annual Clinical Genetics meeting, Poster Presentations Phoenix Convention Center North Building.

Keywords: Friedreich ataxia, newborn screening pilot study, multiplex immunoassay, FXN levels, dried blood spots (DBS)

Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report

Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report; Lindsay Zetzsche, Ralitza Gavrilova, Devin Oglesbee; 2013 ACMG Annual Clinical Genetics meeting, Poster Presentations, Phoenix Convention Center North Building

Keywords: Friedreich ataxia, expansion allele in FXN, carrier for FRDA, blood protein frataxin level.

Complexes between two GAA Repeats within DNA introduced into Cos-1 cells.

Complexes between two GAA Repeats within DNA introduced into Cos-1 cells.. Krasilnikova MM.; Mob Genet Elements. 2012 Nov 1;2(6):267-271.

Keywords: Friedreich ataxia, GAA repeat, chromatin, genome instability, replication.