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
• Friedreich ataxia
  From NCATS Genetic and Rare Diseases Information Center
• Predictors of progression in patients with Friedreich ataxia.
  La Pean Alison, et al. Movement disorders : official journal of the Movement Disorder Society 2008 10 (14) 2026-32
• Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.
  Chattopadhyay B, et al. Annals of human genetics 2004 5 (Pt 3) 189-95