Margherita M. Mancardi

Genoa, Italy

Last Updated: 09/26/2026

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Found 21 publications

Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework.

Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework.

Journal: Epilepsia

Published: September 03, 2025

Cortical melt sign: a novel imaging biomarker for pediatric herpes simplex encephalitis.

Cortical melt sign: a novel imaging biomarker for pediatric herpes simplex encephalitis.

Journal: Neuroradiology

Published: August 28, 2025

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 16, 2024

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Journal: American journal of human genetics

Published: July 24, 2024

Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.

Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 12, 2024

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Journal: American journal of human genetics

Published: November 09, 2023

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Journal: Orphanet journal of rare diseases

Published: September 12, 2023

Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.

Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 21, 2022

Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies.

Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies.

Journal: Diagnostics (Basel, Switzerland)

Published: February 17, 2022

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Journal: Cytogenetic and genome research

Published: September 07, 2021

Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"?

Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"?

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: July 19, 2021

Cell-based assays for the detection of MOG antibodies: a comparative study.

Cell-based assays for the detection of MOG antibodies: a comparative study.

Journal: Journal of neurology

Published: May 02, 2020

Showing 1-12 of 21

Last Updated: 09/26/2026