E-LIB Suche - Ergebnisse für: Satya R. Vemula

1

Whole‐exome sequencing for variant discovery in blepharospa..:

Tian, Jun ; Vemula, Satya R. ; Xiao, Jianfeng...
Molecular Genetics & Genomic Medicine. 6 (2018) 4 - p. 601-626 , 2018

Link: https://doi.org/10.1002/..

2

Role of major and brain-specific Sgce isoforms in the patho..:

Xiao, Jianfeng ; Vemula, Satya R. ; Xue, Yi...
Neurobiology of Disease. 98 (2017) - p. 52-65 , 2017

Link: https://doi.org/10.1016/..

3

Motor phenotypes and molecular networks associated with ger..:

Xiao, Jianfeng ; Vemula, Satya R. ; Xue, Yi...
Experimental Neurology. 283 (2016) - p. 110-120 , 2016

Link: https://doi.org/10.1016/..

4

Blepharospasm in a multiplex African-American pedigree:

Xiao, Jianfeng ; Thompson, Misty M. ; Vemula, Satya R..
Journal of the Neurological Sciences. 362 (2016) - p. 299-303 , 2016

Link: https://doi.org/10.1016/..

5

A rare sequence variant in intron 1 of THAP1 is associated ..:

Vemula, Satya R. ; Xiao, Jianfeng ; Zhao, Yu...
Molecular Genetics & Genomic Medicine. 2 (2014) 3 - p. 261-272 , 2014

Link: https://doi.org/10.1002/..

6

Recent Advances in the Genetics of Dystonia:

Xiao, Jianfeng ; Vemula, Satya R. ; LeDoux, Mark S.
Current Neurology and Neuroscience Reports. 14 (2014) 8 - p. , 2014

Link: https://doi.org/10.1007/..

7

Pathogenic variants inTUBB4Aare not found in primary dyston..:

Vemula, Satya R. ; Xiao, Jianfeng ; Bastian, Robert W....
Neurology. 82 (2014) 14 - p. 1227-1230 , 2014

Link: https://doi.org/10.1212/..

8

Role of Gα(olf) in familial and sporadic adult-onset primar..:

Vemula, Satya R. ; Puschmann, Andreas ; Xiao, Jianfeng...
Human Molecular Genetics. 22 (2013) 12 - p. 2510-2519 , 2013

Link: https://doi.org/10.1093/..

9

Dystonia, facial dysmorphism, intellectual disability and b..:

Moscovich, Mariana ; LeDoux, Mark S ; Xiao, Jianfeng...
BMC Medical Genetics. 14 (2013) 1 - p. , 2013

Link: https://doi.org/10.1186/..

10

Mutations in CIZ1 cause adult onset primary cervical dyston..:

Xiao, Jianfeng ; Uitti, Ryan J. ; Zhao, Yu...
Annals of Neurology. 71 (2012) 4 - p. 458-469 , 2012

Link: https://doi.org/10.1002/..

11

Genotype–phenotype correlations in THAP1 dystonia: Molecula..:

LeDoux, Mark S. ; Xiao, Jianfeng ; Rudzińska, Monika...
Parkinsonism & Related Disorders. 18 (2012) 5 - p. 414-425 , 2012

Link: https://doi.org/10.1016/..

12

Whole‐exome sequencing for variant discovery in blepharospa..:

Tian, Jun ; Vemula, Satya R ; Xiao, Jianfeng...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081235/. , 2018

Link: http://www.ncbi.nlm.nih...

13

Role of major and brain-specific Sgce isoforms in the patho..:

Jianfeng Xiao ; Satya R. Vemula ; Yi Xue...
http://www.sciencedirect.com/science/article/pii/S0969996116302625. , 2017

Link: https://doi.org/10.1016/..

14

Role of major and brain-specific Sgce isoforms in the patho..:

Xiao, Jianfeng ; Vemula, Satya R ; Xue, Yi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5283163/. , 2016

Link: http://www.ncbi.nlm.nih...

15

Blepharospasm in a multiplex African-American pedigree:

Xiao, Jianfeng ; Thompson, Misty M ; Vemula, Satya R.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4779500/. , 2016

Link: http://www.ncbi.nlm.nih...