Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

SRC homology 3 (SH3) domains are fundamental modules that enable the assembly of
protein complexes through physical interactions with a pool of proline-rich/noncanonical …

Expansion of an intronic (GGGGCC) n repeat within the C9ORF72 gene is the most common
genetic cause of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …

PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-
protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase …

There is now a substantial amount of compelling evidence demonstrating that the
cerebellum may be a central locus in dystonia pathogenesis. Studies using spontaneous …

Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …

Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-
Joseph disease (SCA3/MJD), an autosomal dominant ataxia caused by a polyglutamine …

A growing number of gain-of-function (GOF) BK channelopathies have been identified in
patients with epilepsy and movement disorders. Nevertheless, the underlying …

Objective Parkinson's disease (PD) and dystonia are two closely related movement
disorders with overlaps in clinical phenotype. Variants in several dystonia-related genes …

Abstract Bardet‐Biedl syndrome (BBS), a rare primary form of ciliopathy, with heterogeneous
clinical and genetic presentation is characterized by rod cone dystrophy, obesity …