Friedreich Ataxia
What's New
Last Posted: Nov 02, 2023
- End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.
Dorsemans Anne-Claire et al. Neurol Clin Pract 2023 13(6) e200199 - How great a risk do you take? A qualitative study exploring attitudes of individuals with Friedreich ataxia towards gene therapy.
Katherine Lieschke et al. Hum Gene Ther 2023 - Depressive symptoms in Friedreich ataxia.
Nieto Antonieta, et al. International journal of clinical and health psychology : IJCHP 2018 0 (1) 18-26 - Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim Minkyeong, et al. Parkinsonism & related disorders 2020 0 58-64 - Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz Raquel, et al. Neurology. Genetics 2022 0 (6) e200038 - A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.
Rodden Layne N, et al. Frontiers in molecular biosciences 2022 0 933788 - Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland.
Juvonen Vesa, et al. Human genetics 2002 0 (1) 36-40 - The inherited cerebellar ataxias: an update.
Coarelli Giulia et al. Journal of neurology 2022 - A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia.
Summa Susanna et al. Journal of neuroscience methods 2020 Mar 338108697 - Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.
Peluzzo Thiago Mazzo, et al. Cerebellum (London, England) 2019 6 - Autosomal-recessive cerebellar ataxias.
Fogel Brent L et al. Handbook of clinical neurology 2018 147187-209 - Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.
Fussiger Helena, et al. Cerebellum (London, England) 2018 6 - Molecular genetic testing for hereditary ataxia: What every neurologist should know.
Wallace Stephanie E et al. Neurology. Clinical practice 2018 Feb 8(1) 27-32 - "Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.
Lowe Georgia C et al. Journal of genetic counseling 2015 Oct 24(5) 732-43 - Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
Hamza Wahiba, et al. BMC medical genetics 2015 0 36 - HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.
Delatycki Martin B, et al. Movement disorders : official journal of the Movement Disorder Society 2014 6 (7) 940-3 - Friedreich ataxia: executive control is related to disease onset and GAA repeat length.
Nachbauer Wolfgang, et al. Cerebellum (London, England) 2014 2 (1) 9-16 - Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.
Bandiera S, et al. PloS one 2013 2 (1) 1 - Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Fogel Brent L, et al. Movement disorders : official journal of the Movement Disorder Society 2012 3 (3) 442-6 - A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.
Kelly Matthew, et al. Journal of molecular and cellular cardiology 2011 11 (5) 848-54
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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