M. Achleitner

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Robert W. Taylor, D. Fisk, R. Weintraub, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Robert W. Taylor, W. Chung, D. Fisk, 2021, Genetics in Medicine.

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

H. Prokisch, R. Jech, R. Rodenburg, 2021, Annals of neurology.

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease

E. Trinka, S. Wortmann, F. Rossini, 2023, Frontiers in Neurology.

Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine

S. Wortmann, J. Mayr, R. Bittner, 2022, Neuropediatrics.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

N. Stence, K. Haldar, M. Ugarte, 2022, Human molecular genetics.

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

A. Munnich, S. Bohlander, W. Wurst, 2021, Annals of neurology.

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening

S. Wortmann, J. Jans, J. Mayr, 2023, Metabolites.