“Six sessions is a drop in the ocean”: an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias

“Six sessions is a drop in the ocean”: an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias. Gavin Daker-White, Julie Greenfield, John Ealing; Physiotherapy, Available online 15 March 2013, http://dx.doi.org/10.1016/j.physio.2013.02.001

Keywords: exploratory study, specialist neurological physiotherapy, improvements following therapy.

Bilateral cochlear implantation in Friedreich's ataxia: A case study.

Bilateral cochlear implantation in Friedreich's ataxia: A case study.. Frewin B, Chung M, Donnelly N., Cochlear Implants Int. 2013 Mar 9. [Epub ahead of print]

Keywords: Friedreich's ataxia (FRDA), sound detection thresholds, auditory pathways, Electrophysiological testing, cochlear nerve, pre-neural cochlear function, temporal processing, frequency discrimination, speech perception, ANSD, hearing loss.

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.

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by Vitamin B3

Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by Vitamin B3 . Ping K. Chan, Raul Torres, Cihangir Yandim, Pui P. Law, Sanjay Khadayate, Marta Mauri, Crina Grosan, Nadine Chapman-Rothe, Paola Giunti, Mark Pook, and Richard Festenstein. Hum. Mol. Genet. first published online March 7, 2013 doi:10.1093/hmg/ddt115

Keywords: triplet repeat sequence (GAA.TTC), transcriptional repression, Frataxin gene (FXN), Friedreich's ataxia (FRDA), heterochromatinization, H3K9me3, H3K27me3, class III HDAC inhibitor vitamin B3 (nicotinamide), H3 and H4 histone acetylations, nicotinamide.

INDAGINI STRUTTURALI SU METALLOPROTEINE MEDIANTE DIFFRATTOMETRIA DEI RAGGI X

INDAGINI STRUTTURALI SU METALLOPROTEINE MEDIANTE DIFFRATTOMETRIA DEI RAGGI X. UNIVERSITÀ DEGLI STUDI DI NAPOLI “FEDERICO II”, TESI DI DOTTORATO IN SCIENZE CHIMICHE, DOTTORANDO: Dott.ssa Marisa Franzese

 The Ph. D. research activity, carried out in collaboration with Dr. Pastore (MRC, London) and Prof. Peisach (AECOM, New York) groups, was focused on structural analysis of the two different metalloproteins: 1) Hemoglobin; 2) Frataxin.

About Frataxin: 9-13, 119-134

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia.

Excessive motor overflow reveals abnormal inter-hemispheric connectivity in Friedreich ataxia. Low SC, Corben LA, Delatycki MB, Ternes AM, Addamo PK, Georgiou-Karistianis N.; J Neurol. 2013 Mar 5. [Epub ahead of print]

Keywords: force variability, motor overflow, Friedreich ataxia (FRDA), finger-pressing task, cortico-cerebellar disruption, motor control. inter-hemispheric activity.

A double-blind, randomized, placebo-controlled, clinical trial to test the efficacy of Epoetin alfa on physical performance of Friedreich Ataxia patients (FriEMax).

A double-blind, randomized, placebo-controlled, clinical trial to test the efficacy of Epoetin alfa on physical performance of Friedreich Ataxia patients (FriEMax). FARA, Clinical Trial Newsletter, March 2013

Expression profile of Yeast Frataxin Mutants

Expression profile of Yeast Frataxin Mutants. Moreno-Cermeño A, Alsina D, Cabiscol E, Ros J, Tamarit J. ; NCBI, Gene expression Omnibus (GEO), Public on Mar 06, 2013