Dr. Simone Mandelstam
Honorary
Radiology
53 Scholarly works
0 Projects
HIGHLIGHTS
2020
Journal article
Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study
DOI: 10.3174/ajnr.A66462020
Journal article
Neuronal Ceroid Lipofuscinosis type 2: an Australian case series
DOI: 10.1111/jpc.148902019
Journal article
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia
DOI: 10.1002/ajmg.c.317512019
Conference Proceedings
Recurrent somatic IDH1 mutation in an adult with Maffucci syndrome
2019
Journal article
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
DOI: 10.1002/epi4.123502019
Journal article
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
DOI: 10.1002/acn3.508152019
Journal article
Dorsal language stream anomalies in an inherited speech disorder
DOI: 10.1093/brain/awz018
RECENT SCHOLARLY WORKS
2019
Journal article
Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke
DOI: 10.1177/17474930187999582018
Conference Proceedings
Dominant mutations in DCC cause isolated agenesis of the corpus callosum with sex specific penetrance
2018
Journal article
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy
DOI: 10.1111/epi.140872018
Journal article
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias
DOI: 10.3174/ajnr.A54682018
Journal article
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy
DOI: 10.1016/j.neuron.2017.12.0052018
Journal article
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45
DOI: 10.1111/epi.139572018
Journal article
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
DOI: 10.1002/ajmg.a.385492017
Journal article
Not all SCN1A epileptic encephalopathies are Dravet syndrome
DOI: 10.1212/WNL.0000000000004331