Results 81 to 90 of about 5,555 (166)

Gait characteristics in people with Friedreich ataxia: daily life versus clinic measures

Frontiers in Neurology
IntroductionGait assessments in a clinical setting may not accurately reflect mobility in everyday life. To better understand gait during daily life, we compared measures that discriminated Friedreich ataxia (FRDA) from healthy control (HC) subjects in ...
Hannah L. Casey, Vrutangkumar V. Shah, Vrutangkumar V. Shah, Daniel Muzyka, James McNames, James McNames, Mahmoud El-Gohary, Kristen Sowalsky, Delaram Safarpour, Patricia Carlson-Kuhta, Christian Rummey, Fay B. Horak, Fay B. Horak, Christopher M. Gomez   +13 more
doaj   +1 more source

Frataxin (FXN; FRDA) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

Generation of Friedreich’s ataxia induced pluripotent stem cells carrying the FXN c.165 + 5G>C splicing mutation

Stem Cell Research
Friedreich’s ataxia (FRDA) is a multisystem, autosomal recessive disease caused by biallelic expansion of GAA repeats in intron 1 of the frataxin gene (FXN).
Pouiré Yameogo, Brandon J. Gerhart, Monica F. Sentmanat, Amber Neilson, Xiaoxia Cui, Mayank Verma, David R. Lynch, Jill S. Napierala, Marek Napierala   +8 more
doaj   +1 more source

Fronto-cerebellar dysfunction and dysconnectivity underlying cognition in friedreich ataxia: The IMAGE-FRDA study.

Human brain mapping, 2016
Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder defined by pathology within the cerebellum and spinal tracts. Although FRDA is most readily linked to motor and sensory dysfunctions, reported impairments in working memory and executive functions indicate that abnormalities may also extend to associations regions of the cerebral ...
Harding, Ian H., Corben, Louise A., Storey, Elsdon, Egan, Gary F., Stagnitti, Monique R., Poudel, Govinda, Delatycki, Martin B., Georgiou-Karistianis, Nellie   +7 more
openaire   +3 more sources

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. [PDF]

Hum Mol Genet
Devore MC, Lam C, Xiao E, Devore J, McCain KRC, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +8 more
europepmc   +1 more source

Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia. [PDF]

Sci Rep
Ibáñez-Cabellos JS, Baviera-Muñoz R, Alemany-Perna B, Sivera R, Bataller L, Cesar S, González-Cabo P, García-Giménez JL, Pallardó FV, Seco-Cervera M.   +9 more
europepmc   +1 more source

Recent developments in Friedreich's ataxia: a state-of-the-art review. [PDF]

Brain Commun
Chapman LR, Mortiboys H, Shaw PJ.
europepmc   +1 more source

Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich's ataxia models. [PDF]

Cell Rep Med
Pido-Lopez J, Moula SE, Shaban E, Stamatiou K, Critchley BJ, Whittaker TE, Svensson S, Anjomani-Virmouni S, Kalef-Ezra E, Carr L, Hassel J, Thrasher AJ, Kurian MA, Blair IA, Rojsajjakul T, Santilli G, Sala A.   +16 more
europepmc   +1 more source

Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia. [PDF]

Cerebellum
Ali SAH, Early J, Farmer JM, Gelbard S, Corben L, Rance G, Lynch DR.   +6 more
europepmc   +1 more source

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. [PDF]

J Neurol
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J.   +12 more
europepmc   +1 more source