Friedreich ataxia: clinical features and new developments
M Keita, K McIntyre, LN Rodden, K Schadt… - Neurodegenerative …, 2022 - Taylor & Francis
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other
neurological features, affects 1 in 50,000–100,000 individuals in the USA. However, FRDA …
neurological features, affects 1 in 50,000–100,000 individuals in the USA. However, FRDA …
Friedreich ataxia: multidisciplinary clinical care
DR Lynch, K Schadt, E Kichula… - Journal of …, 2021 - Taylor & Francis
Friedreich ataxia (FRDA) is a multisystem disorder affecting 1 in 50,000–100,000 person in
the United States. Traditionally viewed as a neurodegenerative disease, FRDA patients also …
the United States. Traditionally viewed as a neurodegenerative disease, FRDA patients also …
[HTML][HTML] Friedreich ataxia
SI Bidichandani, MB Delatycki - 2017 - europepmc.org
Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually
before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with …
before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with …
Cardiovascular research in Friedreich ataxia: unmet needs and opportunities
RM Payne - Basic to Translational Science, 2022 - jacc.org
Friedreich Ataxia (FRDA) is an autosomal recessive disease in which a mitochondrial
protein, frataxin, is severely decreased in its expression. In addition to progressive ataxia …
protein, frataxin, is severely decreased in its expression. In addition to progressive ataxia …
New developments in pharmacotherapy for Friedreich ataxia
A Clay, P Hearle, K Schadt… - Expert Opinion on …, 2019 - Taylor & Francis
ABSTRACT Introduction: Friedreich ataxia (FRDA), a rare disease caused by the deficiency
of the mitochondrial matrix protein frataxin, affects roughly 1 in 50,000 individuals worldwide …
of the mitochondrial matrix protein frataxin, affects roughly 1 in 50,000 individuals worldwide …
Friedreich's ataxia related diabetes: epidemiology and management practices
J Tamaroff, A DeDio, K Wade, MK Wells, C Park… - Diabetes research and …, 2022 - Elsevier
Abstract Aims Friedreich's Ataxia (FRDA) is a progressive neuromuscular disorder typically
caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be …
caused by GAA triplet repeat expansions in both frataxin gene alleles. FRDA can be …
Impact of diabetes in the Friedreich ataxia clinical outcome measures study
A McCormick, J Farmer, S Perlman… - Annals of clinical …, 2017 - Wiley Online Library
Objective Friedreich ataxia (FA) is a progressive neuromuscular disorder caused by GAA
triplet repeat expansions or point mutations in the FXN gene. FA is associated with …
triplet repeat expansions or point mutations in the FXN gene. FA is associated with …
[HTML][HTML] Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases
A Kolnagou, CN Kontoghiorghe… - World Journal of …, 2014 - ncbi.nlm.nih.gov
Thalassaemia major (TM) and Friedreich's ataxia (FA) are autosomal recessive inherited
diseases related to the proteins haemoglobin and frataxin respectively. In both diseases …
diseases related to the proteins haemoglobin and frataxin respectively. In both diseases …
Body mass index and height in the Friedreich ataxia clinical outcome measures study
M Patel, A McCormick, J Tamaroff, J Dunn… - Neurology …, 2021 - AAN Enterprises
Background and Objectives Body mass index (BMI) and height are important indices of
health. We tested the association between these outcomes and clinical characteristics in …
health. We tested the association between these outcomes and clinical characteristics in …
Pediatric ataxia: focus on chronic disorders
DR Lynch, A McCormick, K Schadt, E Kichula - Seminars in pediatric …, 2018 - Elsevier
Evaluation of a pediatric patient presenting with ataxia can be expensive and time
consuming. Acute causes tend to have a clear developmental paradigm, but chronic …
consuming. Acute causes tend to have a clear developmental paradigm, but chronic …