Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth

Brain ◽  
1995 ◽  
Vol 118 (5) ◽  
pp. 1077-1085 ◽  
Author(s):  
P. Giunti ◽  
M. G. Sweeney ◽  
A. E. Harding
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Trinucleotide Repeat ◽  
Repeat Expansion ◽  
Motor Disorders ◽  
Trinucleotide Repeat Expansion ◽  
Machado Joseph Disease

scholarly journals The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

Brain ◽  
1994 ◽  
Vol 117 (4) ◽  
pp. 645-649 ◽  
Author(s):  
P. Giunti ◽  
M. G. Sweeney ◽  
M. Spadaro ◽  
C. Jodice ◽  
A. Novelletto ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Trinucleotide Repeat ◽  
Repeat Expansion ◽  
Trinucleotide Repeat Expansion ◽  
Chromosome 6P ◽  
Cerebellar Ataxias

scholarly journals Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs’ Endothelial Corneal Dystrophy

PLoS ONE ◽  
2019 ◽  
Vol 14 (1) ◽  
pp. e0210996 ◽  
Author(s):  
Yu Qiang Soh ◽  
Gary Peh Swee Lim ◽  
Hla Myint Htoon ◽  
Xin Gong ◽  
V. Vinod Mootha ◽  
...  
Keyword(s):  
Trinucleotide Repeat ◽  
Corneal Dystrophy ◽  
Repeat Expansion ◽  
Clinical Progression ◽  
Trinucleotide Repeat Expansion
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