This comprehensive MDSGene review is devoted to 7 genes—TOR1A, THAP1, GNAL,
ANO3, PRKRA, KMT2B, and HPCA—mutations in which may cause isolated dystonia. It …

Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause
a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich …

Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic
movement disorder defined by involuntary twisting postures. Although frequently transmitted …

An understanding of the genetic etiology of Parkinson disease (PD) has become imperative
for the modern-day neurologist. Although genetic forms cause only a minority of PD, the …

The underlying molecular basis for neurodevelopmental or neuropsychiatric disorders is not
known. In contrast, mechanistic understanding of other brain disorders including …

Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …

Abstract Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form
phospholipid scramblases and ion channels. A large number of ANO3 variants were …

Background Dystonia is clinically and genetically heterogeneous. Despite being a first‐line
testing tool for heterogeneous inherited disorders, whole‐exome sequencing has not yet …

Micro-and nano-polystyrene particles have been widely detected in environment, posing
potential threats to human health. This study was designed to evaluate the …

The dystonias are a group of disorders characterized by excessive muscle contractions
leading to abnormal movements and postures. There are many different clinical …