Results 131 to 140 of about 5,562 (221)

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

Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia. [PDF]

BMJ Neurol Open
Ali A, Cheema WA, Nisar F, Reyaz U, Saad M, Talha M, Sarfraz S, Butt A, Shamoon M, Abdullah A, Shabbir MA, Talha M, Azam H, Abdullah M, Anwaar A.   +14 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

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. [PDF]

J Neurol
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J.   +12 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

Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction. [PDF]

JCEM Case Rep
Sureshkumar P, Kumar SS, Cheriyan J, Masood A.   +3 more
europepmc   +1 more source

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia. [PDF]

Sci Rep
Karamazovova S, Laczó M, Matuskova V, Svecova N, Stovickova L, Blichova Z, Paulasova Schwabova J, Kuzmiak M, Laczó J, Vyhnalek M.   +9 more
europepmc   +1 more source

Effectiveness of rehabilitation intervention in persons with Friedreich ataxia. [PDF]

Front Neurol, 2023
Paparella G, Stragà C, Vavla M, Pesenti N, Merotto V, Martorel GA, Zalunardo S, Armellin M, Comiotto J, Martinuzzi A.   +9 more
europepmc   +1 more source

Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy. [PDF]

Neuroimage Clin
Gaetz W, Saleh MG, Birnbaum C, Bloy L, Roberts TPL, Lynch DR.   +5 more
europepmc   +1 more source

Synthesis and Biological Profile of Omaveloxolone: The Cornerstone for Friedreich Ataxia Treatment. [PDF]

Int J Mol Sci
Cordaro M, Neri G, Ansari SAMK, Buccheri R, Scala A, Piperno A.   +5 more
europepmc   +1 more source