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About 1,292 results

ALLMedicine™ Friedreich Ataxia Center

Research & Reviews  643 results

In vivo survival and differentiation of Friedreich ataxia iPSC-derived sensory neurons ...
https://doi.org/10.1002/sctm.20-0334
Stem Cells Translational Medicine; Viventi S, Frausin S et. al.

Mar 18th, 2021 - Friedreich ataxia (FRDA) is an autosomal recessive disease characterized by degeneration of dorsal root ganglia (DRG) sensory neurons, which is due to low levels of the mitochondrial protein Frataxin. To explore cell replacement therapies as a pos...

Ectopic Burden via Holter Monitors in Friedreich Ataxia.
https://doi.org/10.1016/j.pediatrneurol.2021.01.004
Pediatric Neurology; Mejia E, Lynch A et. al.

Mar 2nd, 2021 - Friedreich ataxia is the most commonly inherited ataxia; nearly 60% of deaths are cardiac in nature, with one in eight deaths due to arrhythmia. Additional or irregular heartbeats, measured as ectopy, can be quantified using portable heart rhythm ...

Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia.
https://doi.org/10.1093/eurjpc/zwaa134
European Journal of Preventive Cardiology; Pane C, Salzano A et. al.

Feb 24th, 2021 - To explore the feasibility of upper limbs cardiopulmonary exercise test (CPET) in Friedreich ataxia (FRDA) patients and to compare the results with sex, age, and body mass index (BMI) matched cohort of healthy controls (HC). Cardiopulmonary exerci...

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fr...
https://doi.org/10.3233/JHD-200423
Journal of Huntington's Disease; Zhao X, Kumari D et. al.

Feb 13th, 2021 - Huntington's disease (HD) is one of a large group of human disorders that are caused by expanded DNA repeats. These repeat expansion disorders can have repeat units of different size and sequence that can be located in any part of the gene and, wh...

Methylated and unmethylated epialleles support variegated epigenetic silencing in Fried...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7861014
Human Molecular Genetics; Rodden LN, Chutake YK et. al.

Jan 12th, 2021 - Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional deficiency via epigenetic silencing. Most patients are homozygous for alleles containing ...

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Guidelines  1 results

Consensus Clinical Management Guidelines for Friedreich's Ataxia
http://www.curefa.org/clinical-care-guidelines
Martin Delatycki

Apr 30th, 2011 - This guideline provides recommendations for the management of individuals with Friedreich ataxia. The guidelines were written by clinicians and the primary audience for these recommendations includes clinicians who treat Friedreich ataxia.

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Clinicaltrials.gov  647 results

In vivo survival and differentiation of Friedreich ataxia iPSC-derived sensory neurons ...
https://doi.org/10.1002/sctm.20-0334
Stem Cells Translational Medicine; Viventi S, Frausin S et. al.

Mar 18th, 2021 - Friedreich ataxia (FRDA) is an autosomal recessive disease characterized by degeneration of dorsal root ganglia (DRG) sensory neurons, which is due to low levels of the mitochondrial protein Frataxin. To explore cell replacement therapies as a pos...

Ectopic Burden via Holter Monitors in Friedreich Ataxia.
https://doi.org/10.1016/j.pediatrneurol.2021.01.004
Pediatric Neurology; Mejia E, Lynch A et. al.

Mar 2nd, 2021 - Friedreich ataxia is the most commonly inherited ataxia; nearly 60% of deaths are cardiac in nature, with one in eight deaths due to arrhythmia. Additional or irregular heartbeats, measured as ectopy, can be quantified using portable heart rhythm ...

Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia.
https://doi.org/10.1093/eurjpc/zwaa134
European Journal of Preventive Cardiology; Pane C, Salzano A et. al.

Feb 24th, 2021 - To explore the feasibility of upper limbs cardiopulmonary exercise test (CPET) in Friedreich ataxia (FRDA) patients and to compare the results with sex, age, and body mass index (BMI) matched cohort of healthy controls (HC). Cardiopulmonary exerci...

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fr...
https://doi.org/10.3233/JHD-200423
Journal of Huntington's Disease; Zhao X, Kumari D et. al.

Feb 13th, 2021 - Huntington's disease (HD) is one of a large group of human disorders that are caused by expanded DNA repeats. These repeat expansion disorders can have repeat units of different size and sequence that can be located in any part of the gene and, wh...

Methylated and unmethylated epialleles support variegated epigenetic silencing in Fried...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7861014
Human Molecular Genetics; Rodden LN, Chutake YK et. al.

Jan 12th, 2021 - Friedreich ataxia (FRDA) is typically caused by homozygosity for an expanded GAA triplet-repeat in intron 1 of the FXN gene, which results in transcriptional deficiency via epigenetic silencing. Most patients are homozygous for alleles containing ...

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News  1 results

Idebenone in Friedreich's Ataxia?
https://www.medscape.com/viewarticle/727161

Aug 24th, 2010 - A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia Lynch DR, Perlman SL, Meier T Arch Neurol. 2010;67:941-947 Summary The goal of this randomized, double-blind, placebo-controlled intervention trial was to evaluate...

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