Results 51 to 60 of about 46,226 (179)
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]
, 2007 Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
Pook, MA +12 more
core +2 more sources
5-Hydroxytryptophan in Friedreich’s Ataxia
Pediatric Neurology Briefs, 1995 The effect of the levorotatory form of 5-hydroxytryptophan (approx 1 gm/day/orally) on cerebellar symptoms in 26 patients with Friedreich’s ataxia was evaluated in a double-blind drug-placebo study by the Ataxia Research Center, Hopital Neurologique ...
J Gordon Millichap
doaj +1 more source
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]
, 2014 Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Perlman, SL +17 more
core +1 more source
Diabetes in Friedreich Ataxia [PDF]
Journal of Neurochemistry, 2013 AbstractDiabetes is a common metabolic disorder in patients with Friedreich ataxia. In this Supplement article, we review the clinical data on diabetes in Friedreich ataxia, and the experimental data from rodent and in vitro models of the disease.
Cnop, Miriam +2 more
openaire +3 more sources
Clinical and Genetic Diagnosis of Friedreich’s Ataxia
Pediatric Neurology Briefs, 1998 The clinical diagnostic criteria and genetic testing for Friedreich’s ataxia are reviewed from the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
J Gordon Millichap
doaj +1 more source
Diagnosing Friedreich's ataxia [PDF]
Archives of Disease in Childhood, 1998 Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire +2 more sources
Safety and Efficacy of The Stem Cell Transplantation in Friedreich’s Ataxia: A Report of Three Cases
International Journal of Physiotherapy, 2021 Background: Friedreich’s ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats in intron 1 of the FXN gene lead to its heterochromatinization and transcriptional silencing.
Riza Azeri +3 more
doaj +1 more source
Late-Onset Friedreich’s Ataxia
Pediatric Neurology Briefs, 1993 Three adult patients from one family with late-onset Friedreich’s ataxia (LOFA) presenting after 25 years (mean age, 30 yrs) were compared with 13 children with classical FA presenting before 20 years (mean age, 13 yrs) and reported from the University ...
J Gordon Millichap
doaj +1 more source
A CASE OF FRIEDREICH'S ATAXIA [PDF]
Archives of Neurology And Psychiatry, 1921 Friedreich's ataxia is still a rarity, and the opportunity to examine the spinal cord in an early stage of the disease does not often present itself. The following case is of interest because it occurred in a boy, aged 11 years, who died of an acute intercurrent disease. He had a younger brother who also had this familial affection.
openaire +2 more sources
Data in Brief, 2018 As part of an ongoing program to develop potential therapeutic agents for the treatment of the neurodegenerative disease Friedreich׳s ataxia (FRDA), we have prepared a number of lipophilic methylene blue analogues.
Indrajit Bandyopadhyay +4 more
doaj +1 more source