Results 71 to 80 of about 6,668 (188)

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics

Annals of Indian Academy of Neurology
Background and Aim: Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease.
Rohan Mahale, Meera Purushottam, Raviprakash Singh, Ramachandra Yelamanchi, Nitish Kamble, Vikram Holla, Pramod K. Pal, Sanjeev Jain, Ravi Yadav   +8 more
doaj   +1 more source

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

Disease Models & Mechanisms, 2012
SUMMARY Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes.
Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio   +9 more
doaj   +1 more source

Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement.

PLoS ONE
BackgroundThe left ventricular (LV) changes which occur in Friedreich ataxia (FRDA) are incompletely understood.MethodsCardiac magnetic resonance (CMR) imaging was performed using a 1.5T scanner in subjects with FRDA who are homozygous for an expansion ...
Roger E Peverill, Kimberly Y Lin, Mark A Fogel, Michael M H Cheung, W Stuart Moir, Louise A Corben, Glenn Cahoon, Martin B Delatycki   +7 more
doaj   +1 more source

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

PLoS ONE, 2013
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription ...
Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude   +9 more
doaj   +1 more source

Structures of compounds assessed for protection against BSO toxicity in FRDA fibroblasts.

, 2013
Structures of compounds assessed for protection against BSO toxicity in FRDA fibroblasts.
James W. Simpkins (53039), Yi Wen (125184), Shao-Hua Yang (125189), Timothy E. Richardson (327474), Amanda E. Yu (327475)   +4 more
core   +1 more source

At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich’s Ataxia

Communications Medicine
Background Friedreich ataxia (FRDA) results in progressive impairment in gait, upper extremity coordination, and speech. Currently, these symptoms are assessed through expert examination at clinical visits.
Ram Kinker Mishra, Adonay S. Nunes, Ana Enriquez, Victoria R. Profeta, McKenzie Wells, David R. Lynch, Ashkan Vaziri   +6 more
doaj   +1 more source

Summary of Clinical Information and FRDA Disease Parameters by Frataxin Quartile.

, 2013
Data collected from the CCRN for FRDA patient registry.
David R. Lynch (413494), Heather L. Plasterer (413490), Eric C. Deutsch (413491), Matthew Belmonte (413492), Elizabeth Egan (413493), James R. Rusche (254351)   +5 more
core   +1 more source

Multivariate models of RV s`and LV regional s`in adult subjects with FRDA.

, 2018
Multivariate models of RV s`and LV regional s`in adult subjects with FRDA.
Louise A. Corben (6166550), Martin B. Delatycki (214513), Roger E. Peverill (3162303), Lesley Donelan (3162294)   +3 more
core   +1 more source

Generation of transgene-free iPSC lines from three patients with Friedreich’s ataxia (FRDA) carrying GAA triplet expansions in the first intron of FXN gene

, 2021
Friedreich’s ataxia (FRDA) is a rare neurodegenerative disorder which is caused by triplet repeat expansion (GAA) in the first intron of FXN gene. In this present study, we generated induced pluripotent stem cells (iPSC) lines from fibroblasts of three ...
Esra Börklü Yücel, Tamer T. Önder, Demir, Ata Berk, Deniz Uğurlu-Çimen, Yildiz, Abdullah Burak, Ata Berk Demir, Kelekci, Simge, Burcu Özçimen, Mehmet Batuhan Karakuş, Ugurlu-Cimen, Deniz, Yucel, Esra Borklu, Simge Kelekçi, Ozcimen, BURCU, Karakus, Mehmet Batuhan, Abdullah Burak Yıldız, Onder, Tamer T.   +15 more
core   +1 more source

Montane alternative silvicultural systems (MASS) introduction and objectives

, 1995
The cooperative Montane Alternative Silvicultural Systems (MASS) research project addresses regeneration, wildlife habitat, and aesthetic concerns in managing forests at higher elevations on Vancouver Island, A series of integrated studies are ...
Beese, William J.
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