Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

B-cell receptor-associated protein 31 (BAP31 or BCAP31) is a ubiquitously expressed
transmembrane protein found mainly in the endoplasmic reticulum (ER), including in …

Objective To identify underlying genetic causes in patients with pediatric movement
disorders by genetic investigations. Methods All patients with a movement disorder seen in a …

Non-small-cell lung cancer (NSCLC) represents most of lung cancers, is often diagnosed at
an advanced metastatic stage. Therefore, exploring the mechanisms underlying metastasis …

Objective. This study aimed to develop a novel ferroptosis‐related gene‐based prognostic
signature for esophageal carcinoma (ESCA). Methods. The TCGA‐ESCA gene expression …

Background Primary mitochondrial diseases (PMD) are one of the most common metabolic
genetic disorders. They are due to pathogenic variants in the mitochondrial genome …

The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi
anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male …

Background Biochemical testing is a common first-tier approach in the setting of genetic
evaluation of patients with unexplained developmental delay. However, results can be …

Pathogenic variants in the BCAP31 gene have recently been associated with a severe
congenital neurological phenotype, named DDCH after its key features: deafness, dystonia …

A family with three affected males and a second family with a single affected male with
intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb …