Simone A Mandelstam

Simone A Mandelstam

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Simone A Mandelstam

Simone A Mandelstam

Publications by authors named "Simone A Mandelstam"

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17Publications

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Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Am J Med Genet A 2018 01 21;176(1):230-234. Epub 2017 Nov 21.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38549DOI Listing
January 2018

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Neuron 2018 01;97(1):59-66.e5

School of Biological Sciences and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273173112
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http://dx.doi.org/10.1016/j.neuron.2017.12.005DOI Listing
January 2018

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

Epilepsia 2017 06 25;58(6):1085-1094. Epub 2017 Apr 25.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13746DOI Listing
June 2017

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Am J Med Genet A 2016 Apr 28;170A(4):1059-63. Epub 2015 Dec 28.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37527DOI Listing
April 2016

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

Neurology 2015 May 17;84(20):2021-8. Epub 2015 Apr 17.

From the Departments of Neurology (A.S.H., R.J.L., G.D.J.), Medical Imaging (S.A.M., M.J.K.), Neurosurgery (W.J.M.), and Anatomical Pathology (D.M.), The Royal Children's Hospital, Parkville; Departments of Neurology (G.D.J.), Radiology (Y.P., G.J.F.), Neurosurgery (G.C.A.F.), and Anatomical Pathology (R.M.K.), Austin Health, Heidelberg; Departments of Paediatrics (A.S.H., S.A.M., R.J.L.), Medicine (G.D.J.), Surgery (G.C.A.F.), Pathology (D.M., R.M.K.), and Radiology (S.A.M., Y.P., G.J.F.), The University of Melbourne; Florey Institute of Neuroscience and Mental Health (A.S.H., S.A.M., M.S., G.D.J.), Heidelberg; Neurosciences (A.S.H., W.J.M., R.J.L.) and Developmental Imaging (S.B., M.J.K.) Groups, Murdoch Children's Research Institute, Parkville, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442099PMC
May 2015

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

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Neurology 2015 Mar 11;84(9):951-8. Epub 2015 Feb 11.

From the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000130
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http://dx.doi.org/10.1212/WNL.0000000000001305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351660PMC
March 2015

GRIN2A: an aptly named gene for speech dysfunction.

Neurology 2015 Feb 16;84(6):586-93. Epub 2015 Jan 16.

From the Department of Paediatrics (S.J.T., S.A.M., A.T.M., I.E.S.), The University of Melbourne, The Royal Children's Hospital, Parkville; Language and Literacy Group (A.K.M., A.T.M.), Population Health Theme, Murdoch Childrens Research Institute, Parkville; Speech Pathology Department (A.V.), The Royal Children's Hospital, Parkville; Department of Radiology (S.A.M.), The University of Melbourne, Parkville; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne; and Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335991PMC
February 2015

Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia.

Epilepsy Res 2015 Jan 30;109:40-7. Epub 2014 Oct 30.

Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2014.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272571PMC
January 2015

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

Epilepsia 2014 Mar 6;55(3):e22-6. Epub 2014 Feb 6.

Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.12533DOI Listing
March 2014

Pulmonary capillary haemangiomatosis in a premature infant.

Pediatr Radiol 2005 Jun 16;35(6):635-40. Epub 2005 Feb 16.

Royal Children's Hospital, University of Melbourne, Flemington Road, Parkville, VIC 3052, Australia.

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http://link.springer.com/10.1007/s00247-004-1374-6
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http://dx.doi.org/10.1007/s00247-004-1374-6DOI Listing
June 2005

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

AJNR Am J Neuroradiol 2003 Sep;24(8):1670-7

Department of Radiology, Royal Children's Hospital, Melbourne, Australia.

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September 2003