For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a
biochemical and/or genetic diagnosis can be achieved. In an individual case this information …

Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), …

Mitochondrial dysfunction affects cellular energy metabolism, but less is known about the
consequences for cytoplasmic biosynthetic reactions. We report that mtDNA replication …

Background: Epidemiologic studies of the families of patients with ataxia-telangiectasia (AT),
a recessive genetic neurologic disorder caused by mutation of the ATM gene, suggest that …

… T > G mutation, SURF1 mutations and brainstem lesions on neuroimaging. The multivariate
analysis confirmed that age of onset before 6 months, failure to thrive, brainstem lesions on …

… T mutation was analyzed similarly in 207 Finnish and 95 foreign controls, and no C/T
heterozygotes, nor T/T … First, the 1472C→T mutant allele is absent among roughly 600 control …

… in the serum concentrations of transaminases, alkaline phosphatase, and bilirubin, and a
decrease in albumin, and recovery after discontinuation of valproate treatment (Lönnqvist, …

This paper verifies the plausibility of existing assessments of the biogas potential in Sweden
and whether a target of 1.1TWh of biogas for transport, as per defined by Swedish …

SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein
involved in various key cellular processes, including the removal of damaged mitochondria …

Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder
caused by the recessive mutation in PEO1, leading to an Y508C change in the mitochondrial …