The field of medical genomics involves translating high throughput genetic methods to the
clinic, in order to improve diagnostic efficiency and treatment decision making. Technical …

RNA polymerase III is essential for the transcription of non-coding RNAs, including tRNAs.
Mutations in the genes encoding its largest subunits are known to cause hypomyelinating …

Background UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational
modification system. Different neurological phenotypes have been associated with UBA5 …

Whole-exome sequencing (WES) is an ideal method for the diagnosis of autosomal
recessive diseases. The aim of this study was to evaluate the diagnostic power of WES in …

High-throughput sequencing studies (HTS) have been highly successful in identifying the
genetic causes of human disease, particularly those following Mendelian inheritance. Many …

Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria
identified homozygosity for the R446* mutation in the PDHX gene as the most common …

The Roma are the most numerous ethnic minority in Europe. The Iberian Roma arrived in
the Iberian Peninsula five centuries ago and still today, they keep a strong group identity …

Low density lipoprotein receptor (LDLR) family members are involved in signaling in the
developing brain. Previously we have reported that missense mutations in the Very Low …

Abstract Dysequilibrium syndrome (DES, OMIM 224050) is a genetically heterogeneous
condition that combines autosomal recessive non-progressive cerebellar ataxia with mental …

Dysequilibrium syndrome (DES) is a non-progressive congenital ataxia characterized by
severe intellectual deficit, truncal ataxia and markedly delayed, quadrupedal or absent …