Max Pohjanpelto

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.

L. Haataja, K. Avela, M. Palomäki, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation

T. Nyman, Ann Saada, B. Battersby, 2022, bioRxiv.

Genetic background of ataxia in children younger than 5 years in Finland

P. Lahermo, A. Suomalainen, P. Isohanni, 2020, Neurology: Genetics.

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

A. Paetau, A. Suomalainen, Sanna Matilainen, 2017, Human molecular genetics.

Reply to ‘Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant’

A. Suomalainen, P. Isohanni, T. Lönnqvist, 2018, Neurogenetics.

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth

A. Suomalainen, P. Isohanni, T. Lönnqvist, 2018, neurogenetics.