Celeste Panteghini

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Mitochondrial Myopathy, Neurodegenerative Diseases, Mendelian Disorder +10

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

Miryam Carecchio, Niccolò E. Mencacci, Alessandro Iodice et al. · Parkinsonism & Related Disorders · 2017 · 88 citations · Full text

Pediatrics, Adcy5-related Movement Disorders, Motor Disorder +7

Frequency and phenotypic spectrum of <i>KMT2B</i> dystonia in childhood: A single‐center cohort study

Miryam Carecchio, Federica Invernizzi, Paulina González-Latapí et al. · Movement Disorders · 2019 · 69 citations

<scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

Demy J.S. Kuipers, Wim Mandemakers, Chin‐Song Lu et al. · Annals of Neurology · 2020 · 63 citations · Full text

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

Miryam Carecchio, Celeste Panteghini, Chiara Reale et al. · Parkinsonism & Related Disorders · 2015 · 44 citations

Disease Heterogeneity, Mendelian Disorder, Genetic Disorder +6