Results 111 to 120 of about 5,660 (167)

Human pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives. [PDF]

Stem Cell Res Ther
Nguyen HT, Napierala M, Napierala JS.
europepmc   +1 more source

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia. [PDF]

Hum Mol Genet
Devore MC, Lam C, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +5 more
europepmc   +1 more source

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

Stem Cell Res
Yameogo P, Gerhart BJ, Sentmanat MF, Neilson A, Cui X, Verma M, Lynch DR, Napierala JS, Napierala M.   +8 more
europepmc   +1 more source

Neuropathology of Friedreich ataxia and its links to metabolic pathways. [PDF]

Neurodegener Dis Manag
Mercado-Ayón E, Lazaropoulos MP, Mercado-Ayón Y, Lynch DR.   +3 more
europepmc   +1 more source

Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia. [PDF]

Nat Commun
Pernaci C, Johnson A, Gillette S, Warden AS, McCormick C, Weiser-Novak S, Ramirez G, Broersma EH, Mishra P, Sivakumar A, Cherqui S, Coufal NG.   +11 more
europepmc   +1 more source

A new c.681dup RUNX1 variant in familial leukemia. [PDF]

Fam Cancer
Crocioni M, Nardelli C, Lema Fernandez AG, Bardelli V, Pierini V, Matteucci C, Beggiato E, Olivi M, Vigliani V, Pelle A, Lanzarone G, Mecucci C.   +11 more
europepmc   +1 more source

Polyphenol-Enriched Fraction from Chestnut Shells as a Source of Bioactive Compounds for Friedreich Ataxia. [PDF]

Molecules
Squillaci G, Cotticelli GM, Carbone V, Westfall AO, Wilson RB, Morana A.   +5 more
europepmc   +1 more source

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. [PDF]

Brain
Erdmann H, Schaub A, Lucas MC, Scholz V, Benet-Pagès A, Becker K, Dineiger C, Mayer V, van Buren I, Breithausen E, Akbari K, Cordts I, Sauer M, Schneider C, Krakowsky R, Schnabel F, Dunker K, Fabritius L, Gerb J, Grabova D, Möhwald K, Näher M, Steinmetz K, Thiessen F, Jäck A, Schneider-Gold C, Zittel S, Petersen C, Schreyer I, Mämecke L, Wilfling S, Wunderlich G, Brenner D, Hellenbroich Y, Muhle K, Huchtemann T, Claus I, Klopstock T, Strupp M, Levin J, Höglinger GU, Huppert D, Becker-Bense S, Filippopulos F, Kilpert F, Leitão E, Kaya S, Depienne C, Schöberl F, Neuhann T, Holinski-Feder E, Zwergal A, Abicht A.   +52 more
europepmc   +1 more source

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia. [PDF]

BMJ Neurol Open
Rummey C, Blair IA, Mesaros C, Rojsajjakul T, Dong Y, Wilmot G, Zesiewicz T, Mathews K, Hoyle JC, Seeberger L, Corben LA, Delatycki MB, Finkel RS, Roxburgh RH, Duquette A, Yoon G, Gomez CM, Subramony SH, Perlman S, Mccormack S, Lynch DR.   +20 more
europepmc   +1 more source

Early experience on omaveloxolone in adult patients with Friedreich's ataxia: a real-world observational study. [PDF]

J Neurol
Lima SM, Caltagirone M, Messina C, Quartetti U, Rini N, D'Amico F, Brighina F, Di Stefano V.   +7 more
europepmc   +1 more source