Mika Henrik Martikainen

Genetic testing and counselling of patients with monogenic amyotrophic lateral sclerosis in Northern Finland: a retrospective, single-centre study

Abstract Amyotrophic lateral sclerosis (ALS) is a common neurodegenerative disease. Its aetiology is complex, but a subset is caused by single-gene pathogenic variants (monogenic ALS). The most common ALS-associated genes are SOD1 and C9orf72 . We evaluated the implementation of...

Drug safety in patients with mitochondrial disease: an observational cohort study

Abstract Background Mitochondrial diseases are common inherited neurometabolic disorders and frequently involve the nervous system, yet their multisystem nature often necessitates complex pharmacological management. Many commonly prescribed medications have off-target effects on...