scholarly journals Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency

2001 ◽  
Vol 69 (1) ◽  
pp. 15-24 ◽  
Author(s):  
Pragna I. Patel ◽  
Grazia Isaya
Keyword(s):  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

1997 ◽  
Vol 41 (5) ◽  
pp. 675-682 ◽  
Author(s):  
Laura Montermini ◽  
Andrea Richeter ◽  
Kenneth Morgan ◽  
Cristina M. Justice ◽  
Dominique Julien ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion

scholarly journals Role of Mismatch Repair Enzymes in GAA·TTC Triplet-repeat Expansion in Friedreich Ataxia Induced Pluripotent Stem Cells

2012 ◽  
Vol 287 (35) ◽  
pp. 29861-29872 ◽  
Author(s):  
Jintang Du ◽  
Erica Campau ◽  
Elisabetta Soragni ◽  
Sherman Ku ◽  
James W. Puckett ◽  
...  
Keyword(s):  
Stem Cells ◽  
Mismatch Repair ◽  
Pluripotent Stem Cells ◽  
Friedreich Ataxia ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion ◽  
Repair Enzymes ◽  
Induced Pluripotent

Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder

Gene ◽  
2013 ◽  
Vol 522 (2) ◽  
pp. 226-230 ◽  
Author(s):  
Ashok Kumar ◽  
Sarita Agarwal ◽  
Divya Agarwal ◽  
Shubha R. Phadke
Keyword(s):  
Myotonic Dystrophy ◽  
Repeat Expansion ◽  
Triplet Repeat ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Triplet Repeat Expansion
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