Results 91 to 100 of about 5,660 (167)

Translational Paradox of Triplet Repeat Expansion Disorders: Synthesizing Clinical Trial Failures to Guide Future Therapeutics. [PDF]

Clin Pharmacol Ther
Swarup V, Deepika D, Garg D, Srivastava AK.   +3 more
europepmc   +1 more source

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

Working memory deficits in Individuals with Friedreich Ataxia: The IMAGE-FRDA study

Frontiers in Human Neuroscience, 2015
Georgiou-Karistianis Nellie, Stagnitti Monique, Egan Gary, Storey Elsdon, Delatycki Martin, Corben Louise   +5 more
openaire   +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

Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow. [PDF]

J Neuromuscul Dis
Smith BK, Coker MA, Liberati C, Meyer BP, Norman S, Ehrbar J, Leon-Astudillo C, Subramony S, Corti M.   +8 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

Modeling Friedreich's ataxia with Bergmann glia-enriched human cerebellar organoids. [PDF]

Commun Biol
Ryu S, Inman J, Hong H, Jovanovic VM, Chen Q, Gedik Y, Jethmalani Y, Hur I, Harouni M, Voss T, Lack J, Collins J, Ormanoglu P, Simeonov A, Tristan CA, Singeç I.   +15 more
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

The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil. [PDF]

Cerebellum
Aschoff CAM, Silva TO, Hasan A, Migliorini E, Donis KC, Rare Genomes Project Consortium, Pellerin D, Saraiva-Pereira ML, Leistner S, Poswar F, Giugliani R, Netto CBO, Ashton-Prolla P, Saute JAM, Jardim LB.   +14 more
europepmc   +1 more source