Results 121 to 130 of about 5,555 (166)

Antisense oligonucleotide therapy for patients with Friedreich's ataxia carrying the c.165+5G>C splicing mutation. [PDF]

Mol Ther Nucleic Acids
Yameogo P, Aguilar S, Prakash TP, Rigo F, Lynch DR, Napierala JS, Napierala M.   +6 more
europepmc   +1 more source

Predictive machine learning and multimodal data to develop highly sensitive, composite biomarkers of disease progression in Friedreich ataxia. [PDF]

Sci Rep
Saha S, Corben LA, Selvadurai LP, Harding IH, Georgiou-Karistianis N.   +4 more
europepmc   +1 more source

Redox homeostasis and inflammation in fibroblasts of patients with Friedreich Ataxia: a possible cross talk. [PDF]

Front Mol Neurosci
Quatrana A, Petrillo S, Torda C, De Santis E, Bertini E, Piemonte F.   +5 more
europepmc   +1 more source

Base editing as a therapeutic strategy for somatic repeat expansion diseases. [PDF]

Nat Genet
Saha K.
europepmc   +1 more source

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats. [PDF]

Int J Mol Sci
Park J, Dufke C, Fleszar Z, Schlotterbek M, Buena-Atienza E, Stühn LG, Gross C, Sturm M, Ossowski S, Schöls L, Riess O, Haack TB.   +11 more
europepmc   +1 more source

Frataxin expression rescues mitochondrial dysfunctions in FRDA cells [PDF]

Human Molecular Genetics, 2001
Friedreich's ataxia (FRDA) is the result of mutations in the nuclear-encoded frataxin gene, which is expressed in mitochondria. Several lines of evidence have suggested that frataxin is involved in mitochondrial iron homeostasis. We have transfected the frataxin gene into lymphoblasts of FRDA compound heterozygotes (FRDA-CH) with deficient frataxin ...
Bo Lonnerdal, Cinzia Gellera, Gino Cortopassi   +2 more
exaly   +3 more sources

Comparison of three clinical rating scales in Friedreich ataxia (FRDA)

Movement Disorders, 2009
AbstractTo test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety‐six patients with a molecular genetic diagnosis of FRDA were rated using three different clinical scales, the FRDA Rating Scale (FARS), the ...
Ludger Schols, Jörg B Schulz, Sylvia Boesch   +2 more
exaly   +4 more sources

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Sensitivity of FRDA Lymphoblasts to Salts of Transition Metal Ions

Antioxidants and Redox Signaling, 2000
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease resulting from decreased expression of the nuclear-encoded mitochondrial protein, frataxin. FRDA patients have characteristic iron deposits and dysfunction of mitochondrial enzymes in the heart.
Franco Taroni, Cinzia Gellera, Gino Cortopassi   +2 more
exaly   +3 more sources