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

The integrated stress response (ISR) is a highly conserved biochemical pathway involved in
maintaining proteostasis and cell health in the face of diverse stressors. In this Review, we …

X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the
Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type …

The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …

The quest to elucidate nervous system function and dysfunction in disease has focused
largely on neurons and neural circuits. However, fundamental aspects of nervous system …

Herein, we discuss data concerning the involvement of transcription factor Yin Yang 1 (YY1)
in the development of brain diseases, highlighting mechanisms of its pathological actions …

Dystonia refers to a heterogeneous group of movement disorders characterized by
involuntary, sustained muscle contractions leading to repetitive twisting movements and …

High-throughput sequencing has been instrumental in uncovering the spectrum of
pathogenic genetic alterations that contribute to the etiology of dystonia. Despite the …

Well-differentiated low-grade lung neuroendocrine tumors (lung carcinoids or LNETs) are
histopathologically classified as typical and atypical LNETs, but each subtype is still …

Advances in sequencing technologies have identified novel genes associated with inherited
forms of dystonia, providing valuable insights into its genetic basis and revealing diverse …