Objective: Mutations in the glucocerebrosidase gene (GBA) represent a significant risk
factor for developing Parkinson disease (PD). We investigated the enzymatic activity of …

Respiration rate is an important indicator of a person's health, and thus it is monitored when
performing clinical evaluations. There are different approaches for respiration monitoring, …

A few yearsago the senior author and Feeney (1) reported the isolation from the Carribean
sponge, Crypotethia crypta, of a mixture of nucleosides notpreviously encountered in nature. …

Background Phenytoin is the recommended second-line intravenous anticonvulsant for
treatment of paediatric convulsive status epilepticus in the UK; however, some evidence …

Respiration rate is an important indicator of an individual's health. Existing respiration
monitoring systems are usually contact based, and so the sensing device is attached to the …

For inherited genetic diseases, fetal gene therapy offers the potential of prophylaxis against
early, irreversible and lethal pathological change. To explore this, we studied neuronopathic …

Autosomal recessively inherited glucocerebrosidase 1 (GBA1) mutations cause the lysosomal
storage disorder Gaucher's disease (GD). Heterozygous GBA1 mutations (GBA1 +/− ) are …

Although mitochondrial disorders are clinically heterogeneous, they frequently involve the
central nervous system and are among the most common neurogenetic disorders. Identifying …

Objectives The majority of people with suspected genetic dystonia remain undiagnosed
after maximal investigation, implying that a number of causative genes have not yet been …

Pluripotential embryonal carcinoma (EC) cells do not produce interferon after treatment with
a wide variety of inducers, nor are they sensitive to its action. Several differentiated lines …