Search Results

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.

• Authors : Carvajal JJ; Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, London, UK.; Pook MA

Subjects: Iron-Binding Proteins*; Friedreich Ataxia/Friedreich Ataxia/Friedreich Ataxia/*genetics ; Genes/Genes/Genes/*genetics

• Source: Nature genetics [Nat Genet] 1996 Oct; Vol. 14 (2), pp. 157-62.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Print ISSN: 1061-4036

Record details

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

• Authors : Aguilera, Cinthia; Esteve-Garcia, Anna; Casasnovas, Carlos

Subjects: SPINOCEREBELLAR ataxia; ATAXIA; TRINUCLEOTIDE repeatsEUROPE

• Source: BMC Medical Genomics; 12/1/2023, Vol. 16 Issue 1, p1-6, 6p

Record details

Agricola

Record details

Left ventricular structural and functional changes in Friedreich ataxia - Relationship with body size, sex, age and genetic severity

• Authors : Peverill, Roger E.; Romanelli, Giovanni; Donelan, Lesley

• Source: PLoS ONE. November 13, 2019, Vol. 14 Issue 11, e0225147

Record details

Findings on Friedreich Ataxia Detailed by Investigators at State University of Campinas (Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience)

• Source: Obesity, Fitness & Wellness Week. January 18, 2020, 1395

Record details

Researchers from Department of Computer Science Publish New Studies and Findings in the Area of Friedreich Ataxia (Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease ...)

• Source: Women's Health Weekly. January 2, 2020, 5948

Record details

Recent Findings from Scripps Research Institute Provides New Insights into Friedreich Ataxia (Transcriptional Profiling of Isogenic Friedreich Ataxia Neurons and Effect of an Hdac Inhibitor On Disease Signatures)

• Source: Obesity, Fitness & Wellness Week. March 30, 2019, 1120

Record details

Data on Friedreich Ataxia Discussed by Researchers at All India Institute of Medical Sciences [Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients]

• Source: Obesity, Fitness & Wellness Week. November 2, 2019, 791

Record details

New Friedreich Ataxia Study Findings Reported from Children's Hospital of Philadelphia (Ferroptosis As a Novel Therapeutic Target for Friedreich's Ataxia)

• Source: Obesity, Fitness & Wellness Week. April 6, 2019, 114

Record details

Findings from C. Bon and Colleagues Update Understanding of Friedreich Ataxia (SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia)

• Source: Obesity, Fitness & Wellness Week. October 26, 2019, 1032

Record details