Advances in molecular and cell biology of dystonia: focus on torsinA
P Gonzalez-Alegre - Neurobiology of disease, 2019 - Elsevier
During the last two decades, our knowledge on the genetic bases of Mendelian forms of
dystonia has expanded significantly. This has translated into the generation of multiple cell …
dystonia has expanded significantly. This has translated into the generation of multiple cell …
The role of TOR1A polymorphisms in dystonia: a systematic review and meta-analysis
Importance A number of genetic loci were found to be associated with dystonia. Quite a few
studies have been contacted to examine possible contribution of TOR1A variants to the risk …
studies have been contacted to examine possible contribution of TOR1A variants to the risk …
BDNF rs6265 (Val66Met) polymorphism as a risk factor for blepharospasm
A few genetic variants are implicated in the development of blepharospasm (BSP). The
precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP …
precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP …
Risk factor genes in patients with dystonia: a comprehensive review
Background Dystonia is a movement disorder with high heterogeneity regarding phenotypic
appearance and etiology that occurs in both sporadic and familial forms. The etiology of the …
appearance and etiology that occurs in both sporadic and familial forms. The etiology of the …
Recent developments in dystonia
HA Jinnah, JK Teller, WR Galpern - Current opinion in neurology, 2015 - journals.lww.com
Recent developments in dystonia : Current Opinion in Neurology Recent developments in
dystonia : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …
dystonia : Current Opinion in Neurology Log in or Register Subscribe to journalSubscribe …
Val66Met polymorphism of brain-derived neurotrophic factor is associated with idiopathic dystonia
W Sako, N Murakami, Y Izumi, R Kaji - Journal of Clinical Neuroscience, 2015 - Elsevier
Abstract The Val66Met (G196A; rs6265) single nucleotide polymorphism of brain-derived
neurotrophic factor (BDNF) affects morphology and neuronal activity, and is expected to be …
neurotrophic factor (BDNF) affects morphology and neuronal activity, and is expected to be …
Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia
Background and objectives Dystonia is a genetically complex disease with both monogenic
and polygenic causes. For the latter, numerous genetic associations studies have been …
and polygenic causes. For the latter, numerous genetic associations studies have been …
TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia
SL Timerbaeva, NY Abramycheva… - International Journal …, 2015 - Taylor & Francis
Purpose/Aim of the study: To analyze contribution of rs3842225 and rs1182 single
nucleotide polymorphisms (SNP) in TOR1A gene, the causative gene for the DYT1 form of …
nucleotide polymorphisms (SNP) in TOR1A gene, the causative gene for the DYT1 form of …
DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia
The dystonias are a clinical heterogeneous group with a complex genetic background. To
gain more insight in genetic risk factors in dystonia we used a pathway sequence approach …
gain more insight in genetic risk factors in dystonia we used a pathway sequence approach …
Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia
Q Zhou, Y Chen, J Yang, B Cao, Q Wei, R Ou… - Neuroscience …, 2016 - Elsevier
Abstract Background TOR1A (torsinA, DYT1) is the leading cause of early-onset generalized
dystonia, however, the associations between common TOR1A single nucleotide …
dystonia, however, the associations between common TOR1A single nucleotide …