Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Tobias B. Haack, Ahmad Alahmad et al.|The American Journal of Human Genetics|2022Cited by 22
Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduriaMaria João Malaquias, Marina Magalhães, Diogo Costa et al.|Parkinsonism & Related Disorders|2021Cited by 3
Diagnosis across a cohort of “atypical” atypical and complex parkinsonismMaria João Malaquias, Marina Magalhães, Liliana Igreja et al.|Parkinsonism & Related Disorders|2023Cited by 3