Results 41 to 50 of about 4,540 (202)

Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

, 2011
NOTICE: this is the author’s version of a work that was accepted for publication in Neurobiology of Disease. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control ...
Ezzatizadeh, V, Rusche, James R., Steve Jones, James R. Rusche, Gottesfeld, Joel M., Jones, S, Sandi, C, Barnes, Glenn, Joel M. Gottesfeld, Pook, MA, Pinto, RM, Al-Mahdawi, Sahar, Chiranjeevi Sandi, Sandi, Chiranjeevi, Barnes, G, Mark A. Pook, Pinto, Ricardo Mouro, Al-Mahdawi, S, Jones, Steve, Pook, Mark A., Vahid Ezzatizadeh, Ezzatizadeh, Vahid, Sahar Al-Mahdawi, Rusche, JR, Ricardo Mouro Pinto, Gottesfeld, JM, Glenn Barnes   +26 more
core   +1 more source

Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia.

PLoS ONE, 2016
There is no current approved therapy for the ultimately lethal neuro- and cardio-degenerative disease Friedreich's ataxia (FA). Finding minimally-invasive molecular biomarkers of disease progression and drug effect could support smaller, shorter clinical
Genki Hayashi, Gino Cortopassi
doaj   +1 more source

Diagnosing Friedreich's ataxia [PDF]

Archives of Disease in Childhood, 1998
Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire   +2 more sources

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

, 2007
Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A, De Biase, Irene, Monticelli, A, Bidichandani, Sanjay I., De Biase, I, Al-Mahdawi, S, Pook, Mark, Cocozza, S, Al-Mahdawi, Sahar, Pook, M A, Bidichandani, S, Monticelli, Antonella, Cocozza, Sergio, Rasmussen, Astrid   +13 more
core   +1 more source

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

, 2006
Friedreich ataxia (FRDA) is a neurodegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN gene. However, the origins of the GAA repeat expansion, its unstable dynamics within different cells and tissues, and ...
Pinto, Ricardo Mouro, Blake, Julian, Al-Mahdawi, S, Lowrie, Margaret B., Hughes, Sian, Pook, Mark A., Webster, Zoe, Varshney, Dhaval, Pook, MA, Lawrence, Lorraine, King, Rosalind, Cooper, J. Mark, Al-Mahdawi, Sahar, Mouro Pinto, R   +13 more
core   +1 more source

5-Hydroxytryptophan in Friedreich’s Ataxia

Pediatric Neurology Briefs, 1995
The effect of the levorotatory form of 5-hydroxytryptophan (approx 1 gm/day/orally) on cerebellar symptoms in 26 patients with Friedreich’s ataxia was evaluated in a double-blind drug-placebo study by the Ataxia Research Center, Hopital Neurologique ...
J Gordon Millichap
doaj   +1 more source

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

, 2007
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
Pook, MA, Mouro Pinto, R, Al-Mahdawi, S, Trabzuni, D, Sandi, C   +4 more
core   +1 more source

Diabetes in Friedreich Ataxia [PDF]

Journal of Neurochemistry, 2013
AbstractDiabetes is a common metabolic disorder in patients with Friedreich ataxia. In this Supplement article, we review the clinical data on diabetes in Friedreich ataxia, and the experimental data from rodent and in vitro models of the disease.
Cnop, Miriam, Mulder, Hindrik, Igoillo Esteve, Mariana   +2 more
openaire   +3 more sources

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source