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1 f frataxin, the protein which is depleted in Friedreich ataxia.
2 ression and treatment effects in people with Friedreich ataxia.
3 l deficit and frataxin levels in people with Friedreich ataxia.
4  cluster biogenesis in mitochondria, such as Friedreich ataxia.
5  in healthy volunteers and participants with Friedreich ataxia.
6 th rapid development in controls, but not in Friedreich ataxia.
7 pastic paraplegia type 7 and very late-onset Friedreich ataxia.
8 tically contribute to the pathophysiology of Friedreich ataxia.
9 unclear where and how, and deficiency causes Friedreich ataxia.
10 tutes a new and useful model system to study Friedreich ataxia.
11 m underlying reduced frataxin mRNA levels in Friedreich Ataxia.
12 inant cause of transcriptional deficiency in Friedreich ataxia.
13 genesis of the most common recessive ataxia, Friedreich ataxia.
14  1 (SCA1), Machado-Joseph disease (MJD), and Friedreich ataxia.
15 ension (-14+/-6%), Fabry disease (-12+/-5%), Friedreich ataxia (-16+/-2%), or control subjects (-17+/
16                Defects in frataxin result in Friedreich ataxia, a genetic disease characterized by ea
17                However, studies in models of Friedreich ataxia, a neurodegenerative and cardiodegener
18                                              Friedreich ataxia, a neurodegenerative disorder resultin
19                                              Friedreich ataxia accounts for approximately 75% of Euro
20 ugust 2023, we assessed 169 individuals with Friedreich ataxia and 95 controls.
21 scuss the typical and atypical phenotypes of Friedreich ataxia and CANVAS, along with the features of
22                 We assessed individuals with Friedreich ataxia and controls, 5 to 42 years, at 7 site
23 erences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and di
24 l sclerosis, nucleotide expansion disorders (Friedreich ataxia and fragile X syndrome), and cancer.
25 nding was detected between participants with Friedreich ataxia and healthy volunteers.
26 se models for the neurodegenerative diseases Friedreich ataxia and Huntington disease.
27 ac and brain MC1 density in a mouse model of Friedreich ataxia and in healthy volunteers and particip
28 s thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytoso
29 ior cerebellar peduncles during childhood in Friedreich ataxia and open the way for the use of neuroi
30 h conditions that are recessively inherited, Friedreich ataxia and RFC1-associated cerebellar ataxia,
31     The effects were most pronounced for the Friedreich ataxia and the fragile X triplet repeat seque
32 tures reminiscent of mitochondrial myopathy, Friedreich ataxia, and 3-hydroxy-3-methylglutaryl-CoA ly
33 define the spectrum of pathogenic alleles in Friedreich ataxia, and demonstrate that expanded alleles
34 data on cystic fibrosis, Huntington disease, Friedreich ataxia, and progressive myoclonus epilepsy.
35 ity of borderline alleles confers a risk for Friedreich ataxia, and the range of pathogenic alleles i
36 ata indicate that expanded GAA-TR alleles in Friedreich ataxia are highly mutable and have a natural
37 ch corresponds to the expanded GAA repeat in Friedreich ataxia, as well as for ATT, CCT and GTT repea
38 the formation of non-B-DNA structures in the Friedreich ataxia-associated (GAA)n*(TTC)n repeats from
39 t in the first intron of the FXN gene causes Friedreich ataxia by reducing frataxin expression.
40      We explored whether disease severity of Friedreich ataxia can be predicted using data from clini
41            From the database of the European Friedreich Ataxia Consortium for Translational Studies (
42 oth real data sets (cystic fibrosis data and Friedreich ataxia data) and simulated data sets.
43 ical approach for the clinical assessment of Friedreich ataxia (FA) cardiomyopathy (FA-CM).
44                                              Friedreich ataxia (FA) is a neurodegenerative and cardio
45                                              Friedreich ataxia (FA) is a progressive genetic neurodeg
46                                              Friedreich ataxia (FA) is a progressive neurodegenerativ
47                                              Friedreich ataxia (FA) is an autosomal recessive disease
48                                              Friedreich ataxia (FA) is the most common ataxia and res
49  the most common autosomal recessive ataxia, Friedreich ataxia (FA).
50 re responsible for the neurological disorder Friedreich ataxia (FA).
51 eat tracts are involved in the etiologies of Friedreich ataxia, fragile X syndrome, and myotonic dyst
52                  In this review, we focus on Friedreich ataxia (FRDA) and the polyglutamine ataxias i
53 e but not all patients with the rare disease Friedreich ataxia (FRDA) are at increased risk of poor c
54                        Most individuals with Friedreich ataxia (FRDA) are homozygous for an expanded
55  incomplete shift of IRP1 to its ISC form in Friedreich ataxia (FRDA) fibroblasts, associated with de
56                                              Friedreich Ataxia (FRDA) is a chronic neurodegenerative
57                                              Friedreich ataxia (FRDA) is a frequent autosomal recessi
58                      The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the trip
59                                              Friedreich ataxia (FRDA) is a neurodegenerative disease
60                                              Friedreich ataxia (FRDA) is a neurodegenerative disorder
61                                              Friedreich ataxia (FRDA) is a neurodegenerative disorder
62                                              Friedreich ataxia (FRDA) is a rare multisystem, life-lim
63                                              Friedreich ataxia (FRDA) is an autosomal recessive degen
64                                              Friedreich ataxia (FRDA) is an autosomal recessive degen
65                                              Friedreich ataxia (FRDA) is an autosomal recessive neuro
66                                              Friedreich ataxia (FRDA) is an autosomal recessive neuro
67                                              Friedreich ataxia (FRDA) is an inherited neurodegenerati
68                                              Friedreich ataxia (FRDA) is caused by a homozygous GAA r
69                                              Friedreich ataxia (FRDA) is caused by an expanded GAA tr
70                                              Friedreich ataxia (FRDA) is caused by hyperexpansion of
71                                              Friedreich ataxia (FRDA) is caused by the reduced expres
72 ansion, its role in the GAA.TTC expansion of Friedreich ataxia (FRDA) is less clear.
73                                              Friedreich ataxia (FRDA) is primarily caused by an unsta
74                                              Friedreich ataxia (FRDA) is the most common genetic sens
75                                              Friedreich ataxia (FRDA) is the most common inherited at
76                                              Friedreich ataxia (FRDA) is typically caused by homozygo
77                                              Friedreich ataxia (FRDA) patients are homozygous for exp
78  Human frataxin (fxn) is severely reduced in Friedreich ataxia (FRDA), a frequent autosomal recessive
79  Frataxin deficiency is the primary cause of Friedreich ataxia (FRDA), an autosomal recessive cardiod
80                                              Friedreich ataxia (FRDA), an autosomal recessive, neurod
81                      Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA tri
82                                           In Friedreich ataxia (FRDA), one of the most common heredit
83                                              Friedreich ataxia (FRDA), the most common hereditary ata
84 tolerability, and efficacy of deferiprone in Friedreich ataxia (FRDA).
85  gene causes an mRNA deficit that results in Friedreich ataxia (FRDA).
86                      ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur c
87                 However, the human diseases, Friedreich ataxia, glutaredoxin 5-deficient sideroblasti
88       Compared to controls, individuals with Friedreich ataxia had lower volume of dentate nucleus an
89 tein linked to the neurodegenerative disease Friedreich ataxia, has recently been proposed as an iron
90  found that approximately 20% of people with Friedreich ataxia have at least one such expanded compos
91 ss disease-modifying therapeutic advances in Friedreich ataxia, highlighting the most promising candi
92 ses including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syn
93 ensurate with the observed low prevalence of Friedreich ataxia in Mestizos.
94                          This indicates that Friedreich ataxia in Mexican Mestizos is due to genetic
95 , analogous to disease-causing expansions in Friedreich ataxia, including two that are in introns of
96                                              Friedreich ataxia is a genetic disease caused by deficie
97                                              Friedreich ataxia is a severe autosomal-recessive diseas
98                                              Friedreich ataxia is an autosomal recessive neurodegener
99                                              Friedreich ataxia is an early-onset multisystemic diseas
100                  The most common mutation in Friedreich ataxia is an expanded (GAA*TTC)n sequence, wh
101                                              Friedreich ataxia is an inherited neurodegenerative dise
102                                              Friedreich ataxia is caused by an expanded (GAA*TTC)n se
103                                              Friedreich ataxia is caused by an expanded (GAA.TTC)n se
104                                              Friedreich ataxia is caused by expansion of a GAA triple
105                                              Friedreich ataxia is caused by mutations in the frataxin
106                                              Friedreich ataxia is caused by reduced activity of frata
107                                              Friedreich ataxia is caused by the expansion of a polymo
108                                              Friedreich ataxia is commonly caused by large expansions
109 rate that the GAA triplet repeat mutation in Friedreich ataxia is destabilized, frequently undergoing
110        Thus epigenetic promoter silencing in Friedreich ataxia is reversible, and the results implica
111 e homolog of the human protein implicated in Friedreich ataxia, is involved in iron homeostasis.
112                                              Friedreich ataxia may be one of the most thoroughly stud
113 ion, including expansions analogous to short Friedreich ataxia mutations.
114                                              Friedreich ataxia, myotonic dystrophy type 1 and 3 forms
115 ed arterial hypertension, Fabry disease, and Friedreich ataxia (n=25 per group) were investigated; 25
116                                              Friedreich ataxia patients are homozygous for expanded G
117                         The vast majority of Friedreich ataxia patients are homozygous for large GAA
118                                              Friedreich ataxia patients are typically homozygous for
119                                      In most Friedreich ataxia patients, a large GAA-repeat expansion
120 3) (prevalence, 3.1 per 100,000 population), Friedreich ataxia (prevalence, 1.0 per 100,000 populatio
121 luded standardized neurological assessments (Friedreich Ataxia Rating Scale [FARS], International Coo
122 xpression also inversely correlated with the Friedreich Ataxia Rating Scale score, an indicator of di
123                                              Friedreich ataxia results from frataxin insufficiency ca
124 tive disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia
125 ses associated with oxidative stress such as Friedreich ataxia, spongiform encephalopathies, and Alzh
126                                              Friedreich ataxia, the most common inherited ataxia, is
127                                              Friedreich ataxia, the most prevalent inherited ataxia,
128 gitudinal, multi-modal neuroimaging study in Friedreich ataxia to date.
129  Fe-S cluster biogenesis has extended beyond Friedreich ataxia to include a sideroblastic anemia with
130 n healthy volunteers and in a mouse model of Friedreich ataxia versus wild-type mice (~50% reduction
131  [(18)F]BCPP-EF binding in participants with Friedreich ataxia was lower than that in healthy volunte
132 oncentrations are increased in patients with Friedreich ataxia, which supports the hypothesis that it

 
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