Simone A. Mandelstam
245 Burgundy St
Melbourne, VIC 3084, Australia
Melbourne, VIC 3084, Australia
Last Updated: 09/26/2026
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Found 63 publications
Late-onset epileptic spasms: presentation, aetiology and outcome.
Journal: Brain communications
Published: August 04, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: January 16, 2025
Microstructural analysis does not support altered interhemispheric wiring of the human anterior commissure in corpus callosum dysgenesis.
Journal: NeuroImage. Clinical
Published: August 22, 2024
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Journal: Brain : a journal of neurology
Published: June 30, 2023
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Journal: American journal of medical genetics. Part A
Published: November 20, 2022
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
Journal: AJNR. American journal of neuroradiology
Published: February 24, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: October 28, 2021
Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
Journal: Cold Spring Harbor molecular case studies
Published: July 01, 2021
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
Journal: Epilepsia open
Published: May 03, 2021
Last Updated: 09/26/2026