Results 71 to 80 of about 5,660 (167)

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

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

Anatomical and functional analysis of the corticospinal tract in an FRDA mouse model

Abstract Friedreich’s ataxia (FRDA) is one of the most common hereditary ataxias. It is caused by a GAA repeat in the first intron of the FXN gene, which encodes an essential mitochondrial protein. Patients suffer from progressive motor dysfunction due to the degeneration of mechanoreceptive and proprioceptive neurons in dorsal root ...
Nishiyama, Misa, Kalambogias, John, Imai, Fumiyasu, Yang, Emily, Lang, Sonia, de Nooij, Joriene C, Yoshida, Yutaka   +6 more
openaire   +2 more sources

Somatic instability of the expanded GAA repeats in Friedreich's ataxia.

PLoS ONE, 2017
Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1.
Ashlee Long, Jill S Napierala, Urszula Polak, Lauren Hauser, Arnulf H Koeppen, David R Lynch, Marek Napierala   +6 more
doaj   +1 more source

Progressive mitochondrial protein lysine acetylation and heart failure in a model of Friedreich's ataxia cardiomyopathy.

PLoS ONE, 2017
IntroductionThe childhood heart disease of Friedreich's Ataxia (FRDA) is characterized by hypertrophy and failure. It is caused by loss of frataxin (FXN), a mitochondrial protein involved in energy homeostasis.
Amanda R Stram, Gregory R Wagner, Brian D Fogler, P Melanie Pride, Matthew D Hirschey, R Mark Payne   +5 more
doaj   +1 more source

Targeting rare splicing defects: Antisense oligonucleotides offer a therapeutic strategy in FRDA. [PDF]

Mol Ther Nucleic Acids
Kerkhof LMC, Buijsen RAM.
europepmc   +3 more sources

Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites

Biomedicine & Pharmacotherapy, 1994
The Friedreich's ataxia locus (FRDA) is tightly linked to markers D9S5 and D9S15 located in 9q13-q21. Cumulated maximum lod scores between FRDA and D9S5 and between FRDA and D9S15 are above 36 and 61, respectively, at a recombination fraction of 0, indicating that recombination events needed to orient the search of the gene are very difficult to ...
Sirugo, Giorgio, Duclos, Franck, Fujita, Ricardo, Keats, Bronya J.B., Pandolfo, Massimo, Mandel, Jean-Louis, Koenig, Michel   +6 more
openaire   +3 more sources

Measuring peripheral nerve involvement in Friedreich’s ataxia

Annals of Clinical and Translational Neurology, 2019
Objective Experimental therapies under development for Friedreich’s Ataxia (FRDA) require validated biomarkers. In‐vivo reflectance confocal microscopy (RCM) of skin is a noninvasive way to quantify Meissner’s corpuscle (MC) density and has emerged as a ...
Peter D. Creigh, Joan Mountain, Janet E. Sowden, Katy Eichinger, Bernard Ravina, Jane Larkindale, David N. Herrmann   +6 more
doaj   +1 more source

PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.

PLoS ONE, 2010
BackgroundCells from individuals with Friedreich's ataxia (FRDA) show reduced activities of antioxidant enzymes and cannot up-regulate their expression when exposed to oxidative stress.
Daniele Marmolino, Mario Manto, Fabio Acquaviva, Paola Vergara, Ajay Ravella, Antonella Monticelli, Massimo Pandolfo   +6 more
doaj   +1 more source