scholarly journals Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease

2014 ◽  
Vol 23 (12) ◽  
pp. 3129-3137 ◽  
Author(s):  
A. Vittori ◽  
C. Breda ◽  
M. Repici ◽  
M. Orth ◽  
R. A. C. Roos ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Copy Number ◽  
Glucose Transporter ◽  
Age Of Onset ◽  
Transporter Gene ◽  
Number Variation

C11 Copy number variation in Huntington's disease

2010 ◽  
Vol 81 (Suppl 1) ◽  
pp. A19.2-A19
Author(s):  
A Vittori ◽  
F Giorgini ◽  
F T Outeiro ◽  
E J Hollox
Keyword(s):  
Copy Number Variation ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Copy Number ◽  
Number Variation

scholarly journals β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

2013 ◽  
Vol 2 (1) ◽  
pp. 107-124 ◽  
Author(s):  
Angelica Vittori ◽  
Michael Orth ◽  
Raymund A. C. Roos ◽  
Tiago F. Outeiro ◽  
Flaviano Giorgini ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Copy Number ◽  
Age Of Onset ◽  
Genomic Copy Number ◽  
Genomic Copy

Identification of Novel Germline and Tumor-Specific Nucleotide Variants and Copy Number Variation in Clival Chordomas by Exome Sequencing

2015 ◽  
Vol 76 (S 01) ◽  
Author(s):  
Georgios Zenonos ◽  
Peter Howard ◽  
Maureen Lyons-Weiler ◽  
Wang Eric ◽  
William LaFambroise ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Exome Sequencing ◽  
Copy Number ◽  
Number Variation ◽  
Specific Nucleotide

The impact of paralog genes: detection of copy number variation in spinal muscle atrophy patients

BIOCELL ◽  
2018 ◽  
Vol 42 (3) ◽  
pp. 87-91 ◽  
Author(s):  
Sergio LAURITO ◽  
Juan A. CUETO ◽  
Jimena PEREZ ◽  
Mar韆 ROQU�
Keyword(s):  
Copy Number Variation ◽  
Muscle Atrophy ◽  
Copy Number ◽  
Number Variation ◽  
The Impact
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