Results 121 to 130 of about 7,170 (177)

Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study. [PDF]

J Child Neurol
Rummey C, Perlman S, Subramony SH, Corti M, Farmer J, Lynch DR.   +5 more
europepmc   +1 more source

Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia. [PDF]

Turk J Med Sci, 2023
Yetkin NA, Yetkin MF, Baran Ketencioğlu B, Oymak FS, Gülmez İ, Yilmaz İ, Tutar N.   +6 more
europepmc   +1 more source

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

Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia. [PDF]

Hum Mol Genet, 2023
Ast T, Wang H, Marutani E, Nagashima F, Malhotra R, Ichinose F, Mootha VK.   +6 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

Friedreich's Ataxia related Diabetes: Epidemiology and management practices. [PDF]

Diabetes Res Clin Pract, 2022
Tamaroff J, DeDio A, Wade K, Wells M, Park C, Leavens K, Rummey C, Kelly A, Lynch DR, McCormack SE.   +9 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

Interferon Gamma Enhances Cytoprotective Pathways via Nrf2 and MnSOD Induction in Friedreich's Ataxia Cells. [PDF]

Int J Mol Sci, 2023
Luffarelli R, Panarello L, Quatrana A, Tiano F, Fortuni S, Rufini A, Malisan F, Testi R, Condò I.   +8 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

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