Multisystemic <i>RFC1</i> -Related DisorderMaria João Malaquias, Marco Fernandes, Miguel Pinto et al.|Neurology Clinical Practice|2023Cited by 21
<scp> <i>MYORG</i> </scp> gene disease‐causing variants in a family with primary familial brain calcification presenting with stroke‐like episodesMaria João Malaquias, Marina Magalhães, Ricardo Cruz Martins et al.|Clinical Genetics|2020Cited by 7
Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1Maria João Malaquias, Marina Magalhães, Catarina Pinto et al.|Neurological Sciences|2020Cited by 6
Diagnosis across a cohort of “atypical” atypical and complex parkinsonismMaria João Malaquias, Marina Magalhães, Liliana Igreja et al.|Parkinsonism & Related Disorders|2023Cited by 3
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