Results 81 to 90 of about 5,660 (167)

DNA Base Damage Repair Crosstalks with Chromatin Structures to Contract Expanded GAA Repeats in Friedreich’s Ataxia

Biomolecules
Trinucleotide repeat (TNR) expansion is the cause of over 40 neurodegenerative diseases, including Huntington’s disease and Friedreich’s ataxia (FRDA).
Yanhao Lai, Nicole Diaz, Rhyisa Armbrister, Irina Agoulnik, Yuan Liu   +4 more
doaj   +1 more source

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

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)

Stem Cell Research
Friedreich's ataxia is a spinocerebellar degenerative disease caused by microsatellite (GAA.TTC)n repeat expansion in the first intron of FXN gene. Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi017-A).
Istaq Ahmad, Asangla Kamai, Sana Zahra, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq   +5 more
openaire   +3 more sources

Frataxin (FXN; FRDA) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

Serial assessment of echocardiographic measures in Friedreich ataxia. [PDF]

Am Heart J Plus
Lynch DR, Keita M, Gunther K, Park C, Schadt K, Mercer-Rosa L, Lin KY.   +6 more
europepmc   +1 more source

Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner). [PDF]

Cerebellum
Lazdovska K, Baborikina A, Krutovs V, Rozevska M, Ķēniņa V.   +4 more
europepmc   +1 more source

Advances in Gene and Cellular Therapy in Friedreich Ataxia. [PDF]

Mol Diagn Ther
Lazaropoulos MP, Lynch DR.
europepmc   +1 more source

Dysregulation of sphingolipid-metabolizing enzymes in Friedreich's ataxia: <i>In vitro</i> and <i>in vivo</i> insights into therapeutic targeting. [PDF]

iScience
Ramchunder Z, Kalef-Ezra E, Suleman S, Edzeamey FJ, Szunyogh S, Gittins O, Castro Mena N, Wade-Martins R, Valle A, Pourzand C, Anjomani Virmouni S.   +10 more
europepmc   +1 more source

<i>Fusobacterium nucleatum-</i>derived succinic acid aggravates colitis by triggering macrophage pro-inflammatory phenotypic transformation via SUCNR1/NF-κB axis. [PDF]

Gut Microbes
Zeng S, Jiang S, Sun J, Chen Y, Qiu M, Li J, Lan Q, Pu Y, Tan Z, Guo X, He H, Wang S, Zhang L, Liu Y, Hu J, Wang R, Liao F, Zhang J, Dong W.   +18 more
europepmc   +1 more source