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List of works by Simone Mandelstam

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases

scientific article published on 15 August 2013

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

scientific article published on 11 May 2018

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

scientific article

Acute gastric dilatation.

scientific article published in June 1994

Acute spinal cord syndrome secondary to venous congestion

scientific article published on 01 September 2016

Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child.

scientific article published in January 2005

Angiographic features of 26 children with Takayasu's arteritis ⬇️

scientific article published on February 5, 2003

Anterior temporal changes on MR images of children with hippocampal sclerosis: an effect of seizures on the immature brain?

scientific article

Aortic duplication artefact in a 14-year-old girl

scientific article published on 31 January 2004

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

article

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

scientific article published on 24 January 2013

Challenges of the Anatomy and Diffusion Tensor Tractography of the Meyer Loop ⬇️

scientific article published on March 15, 2012

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study

scientific article published on 30 July 2020

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

scientific article

Complementary use of radiological skeletal survey and bone scintigraphy in detection of bony injuries in suspected child abuse * COMMENTARY ⬇️

scientific article published on May 1, 2003

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

scientific article published on 18 March 2014

Dorsal language stream anomalies in an inherited speech disorder

scientific article published on 01 April 2019

Epileptic spasms are a feature of DEPDC5 mTORopathy.

scientific article published on 23 July 2015

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

scientific article published on 18 August 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

scientific article published on 12 March 2015

Gliomatosis cerebri in a patient with Ollier disease.

scientific article published on 24 August 2011

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

scientific article published on 6 February 2014

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

scientific article

MRI and preoperative embolization of a nasal cavity haemangioma in a child

scientific article published on 01 December 2003

MRI of optic disc edema in childhood idiopathic intracranial hypertension.

scientific article published on 14 January 2004

Medial temporal lobe dysgenesis in hypochondroplasia.

scientific article published in November 2005

Menkes disease: a rare cause of bilateral inguinal hernias.

scientific article published in April 2005

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

scientific article published on 21 November 2017

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

scientific article published on 14 April 2014

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

scientific article published on 5 April 2017

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

scientific article

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

scientific article published on 24 November 2017

Sonography of the pediatric gastrointestinal system.

scientific article published on June 2014

Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis

scientific article published on 9 October 2013

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

scientific article

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

scientific article

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.

scientific article

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