Biallelic Loss‐of‐Function <scp><i>NDUFA12</i></scp> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Reza Maroofian, Flávio Moura Rezende Filho et al.|Movement Disorders Clinical Practice|2021Cited by 18
Biallelic variants in <scp><i>ZNF142</i></scp> lead to a syndromic neurodevelopmental disorderMaria Bejerholm Christensen, Juliane Winkelmann, Amanda M. Levy et al.|Clinical Genetics|2022Cited by 16
Heterozygous <scp><i>EIF2AK2</i></scp> Variant Causes Adolescence‐Onset Generalized Dystonia Partially Responsive to <scp>DBS</scp>Francesca Magrinelli, Henry Houlden, Dalila Moualek et al.|Movement Disorders Clinical Practice|2021Cited by 13
Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense <scp><i>HPCA</i></scp> Variant: Case Series and Literature ReviewFrancesca Magrinelli, Reza Maroofian, Kailash P. Bhatia et al.|Movement Disorders Clinical Practice|2022Cited by 7
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson’s disease to perinatal lethality and disrupt mitochondrial functionFrancesca Magrinelli, Güneş Kızıltan, Christelle Tesson et al.|medRxiv|2024Cited by 6