A new non-invasive diagnostic method for detection of pathogenic mitochondrial DNA variants using faecal-derived DNA samples
Muscle disease progression in mitochondrial DNA deletions
Leigh syndrome: Investigating Outcome measures & Natural history - a prospective, longitudinal cohort study
Interrogating mitochondrial dysfunction in facial appearance and ageing
Understanding and Investigating Cerebellar Ataxia in Adult Mitochondrial Disease
Predicting the progression of m.3243A>G-related mitochondrial disease using white blood cell heteroplasmy
Development of PET-MRS methodology for neurodegenerative diseases v7
Natural History Study of Pyruvate Dehydrogenase Deficiency
A Natural History Study and Patient Registry
Evaluating auditory and vestibular dysfunction in mitochondrial patients harbouring the m.3243A>G mutation
Bladder Dysfunction in Patients with Mitochondrial Disease
Quantifying patient preferences in neuromuscular disorders.
PREFER project case study: Patient and caregiver unmet health priorities and risk tolerance for neuromuscular treatments (qualitative phase).
Phase II feasibility study of the efficacy and acceptability of a low residue diet in adult patients with mitochondrial disease