Results 131 to 140 of about 4,355 (175)

Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia. [PDF]

Biomedicines
Kovacevic G, Todorovic S, Novakovic I, Dobricic V, Savic-Pavicevic D, Milic Rasic V, Svetel M, Brkusanin M, Vukomanovic V, Vucinic D, Ostojic S, Putnik J, Kosac A.   +12 more
europepmc   +1 more source

Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues. [PDF]

Tissue Barriers
Ercanbrack WS, Ramirez M, Dungan A, Gaul E, Ercanbrack SJ, Wingert RA.   +5 more
europepmc   +1 more source

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats. [PDF]

Int J Mol Sci
Park J, Dufke C, Fleszar Z, Schlotterbek M, Buena-Atienza E, Stühn LG, Gross C, Sturm M, Ossowski S, Schöls L, Riess O, Haack TB.   +11 more
europepmc   +1 more source

Stable Isotope Labeling in Bacteria Enables Characterization and Quantification of Frataxin Protein in a Friedreich's Ataxia Zebrafish Model. [PDF]

Anal Chem
Rojsajjakul T, Do W, Wilson RB, Blair IA.   +3 more
europepmc   +1 more source

Emerging antioxidant therapies in Friedreich's ataxia. [PDF]

Front Pharmacol
Edzeamey FJ, Ramchunder Z, Pourzand C, Anjomani Virmouni S.   +3 more
europepmc   +1 more source

Altered Intracerebellar Functional Connectivity in Friedreich's Ataxia: A Graph-Theory Functional MRI Study. [PDF]

Cerebellum
Tranfa M, Costabile T, Pontillo G, Scaravilli A, Pane C, Brunetti A, Saccà F, Cocozza S.   +7 more
europepmc   +1 more source

Sexual dimorphism in a mouse model of Friedreich's ataxia with severe cardiomyopathy. [PDF]

Commun Biol
Salinas L, Montgomery CB, Figueroa F, Thai PN, Chiamvimonvat N, Cortopassi G, Dedkova EN.   +6 more
europepmc   +1 more source

Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich's ataxia: insights from in vitro models. [PDF]

Redox Rep
Edzeamey FJ, Ramchunder Z, Valle Gómez A, Ge H, Marobbio CMT, Pourzand C, Virmouni SA.   +6 more
europepmc   +1 more source

Functional Characterization of Parallel Fiber-Purkinje Cell Synapses in Two Friedreich's Ataxia Mouse Models. [PDF]

Cerebellum
Joseph DJ, Mercado-Ayon E, Flatley L, Viaene AN, Hordeaux J, Marsh ED, Lynch DR.   +6 more
europepmc   +1 more source

Antisense oligonucleotide therapy for patients with Friedreich's ataxia carrying the c.165+5G>C splicing mutation. [PDF]

Mol Ther Nucleic Acids
Yameogo P, Aguilar S, Prakash TP, Rigo F, Lynch DR, Napierala JS, Napierala M.   +6 more
europepmc   +1 more source