Annie Verschueren

TL;DR: A large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and myopathy is reported, showing that mitochondrial disease may be at the origin of some of these phenotypes.

TL;DR: It is shown for the first time that impaired mitochondrial fusion is responsible for a deficiency to repair stress-induced mitochondrial DNA damage and it is likely that defect in mitochondrial DNA repair is due to variability in repair protein content across the mitochondrial population and is at least partially responsible for mitochondrial DNA instability.

TL;DR: expression and functional studies demonstrated that the FHL1 proteins were severely reduced in all tested patients and that this was associated with a severe delay in myotube formation in the two patients for whom myoblasts were available.

TL;DR: The functional status of patients immediately before death was determined and the causes of death and the circumstances surrounding death in 302 patients with amyotrophic lateral sclerosis were investigated.

TL;DR: After a median follow-up time of 7 years, patients with and without conduction block showed similar clinical features and a similar response to IV immunoglobulin treatment.