Πλοήγηση ανά Θέμα "TOR1A protein, human"
Αποτελέσματα 1-3 από 3
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Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
(2021)Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ... -
Risk factor genes in patients with dystonia: A comprehensive review
(2019)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 disease remains unknown. However, there ... -
The role of tor1a polymorphisms in dystonia: A systematic review and meta- analysis
(2017)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 of dystonia, but their results remain ...