Background The aim of this work was to identify new genetic causes of Rett-like phenotypes
using array comparative genomic hybridisation and a whole exome sequencing approach …

Variants in the EIF 4G1 gene have been recently identified to be responsible for autosomal
dominant PD (PARK 18), but its role in the PD‐related neurodegeneration is unclear …

Rare mutations in genes originally discovered in multigenerational families have been
associated with increased risk of Parkinson's disease (PD). The involvement of rare variants …

Background Missense mutations in the eukaryotic translation initiation factor 4-γ 1 (EIF4G1)
gene have previously been implicated in familial Parkinson's disease (PD). A large PD …

Essential tremor (ET) and Parkinson's disease (PD) are common chronic movement
disorders that can cause a substantial degree of disability. However, the etiology underlying …

Pathogenic mutations in the EIF4G1 gene were recently reported as a cause of autosomal
dominant parkinsonism. To assess the frequency of EIF4G1 mutations in the Japanese …

Recently, RAB39B mutations were reported to be a causative factor in patients with
Parkinson's disease (PD). To validate the role of RAB39B in familial PD, a total of 195 …

Parkinson's disease (PD) is the second most common neurodegenerative disorder, affecting
more than 1% of the population over the age of 65 worldwide. Certain rare forms of the …

Association analysis of EIF4G1 and Parkinson disease in **nj... : Medicine Association analysis
of EIF4G1 and Parkinson disease in **njiang Uygur and Han nationality : Medicine Log in or …

Background/Purpose Parkinson's disease (PD) is the second most common
neurodegenerative disorder worldwide. Although idiopathic PD accounts for most of the …