Simone Mandelstam

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique RM Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris de Lange, Jing Zhang, Candace T Myers, Christina Fenger, Zaid Afawi, Edith P Almanza Fuerte, Danielle M Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F Bennett, Samuel F Berkovic, Bertrand Isidor, Arjan Bouman, Eva Brilstra, et al.

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), a..

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

F Arrigoni, D Peruzzo, S Mandelstam, G Amorosino, D Redaelli, R Romaniello, R Leventer, R Borgatti, M Seal, JY-M Yang

Journal article  |  2020  |  AMERICAN JOURNAL OF NEURORADIOLOGY

BACKGROUND AND PURPOSE: Polymicrogyria and lissencephaly may be associated with abnormal organization of the undelying white matte..

Neuronal Ceroid Lipofuscinosis type 2: an Australian case series

Alexandra M Johnson, Simone Mandelstam, Ian Andrews, Katja Boysen, Joy Yaplito-Lee, Michael Fietz, Lakshmi Nagarajan, Victoria Rodriguez-Casero, Monique M Ryan, Nicholas Smith, Ingrid E Scheffer, Carolyn Ellaway

Journal article  |  2020  |  JOURNAL OF PAEDIATRICS AND CHILD HEALTH

AIM: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in childr..

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Renske Oegema, George McGillivray, Richard Leventer, Anne-Gaelle Le Moing, Nadia Bahi-Buisson, Angela Barnicoat, Simone Mandelstam, David Francis, Fiona Francis, Grazia MS Mancini, Sanne Savelberg, Gijs van Haaften, Kshitij Mankad, Maarten H Lequin

Journal article  |  2019  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutatio..

Recurrent somatic IDH1 mutation in an adult with Maffucci syndrome

NJ Brown, Z Ye, C Stutterd, A Schneider, S Mullen, S Mandelstam, IE Scheffer, MS Hildebrand

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article  |  2019  |  EPILEPSIA OPEN

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Wei Shern Lee, Sarah EM Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel F Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer

Journal article  |  2019  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

Focal cortical dysplasia (FCD) causes drug-resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. Ho..

Dorsal language stream anomalies in an inherited speech disorder

Frederique J Liegeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, Melanie Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan

Journal article  |  2019  |  BRAIN

Speech disorders are highly prevalent in the preschool years, but frequently resolve. The neurobiological basis of the most persis..

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

Tanya L Medley, Christina Miteff, Ian Andrews, Tyson Ware, Michael Cheung, Paul Monagle, Simone Mandelstam, Alison Wray, Clair Pridmore, Christopher Troedson, Russell C Dale, Michael Fahey, Adriane Sinclair, Peter Walsh, Belinda Stojanovski, Mark T MacKay

Journal article  |  2019  |  INTERNATIONAL JOURNAL OF STROKE

Stroke is among the top 10 causes of death in children and survivors carry resulting disabilities for decades, at substantial cost..

Dominant mutations in DCC cause isolated agenesis of the corpus callosum with sex specific penetrance

APL Marsh, D Heron, TJ Edwards, A Quartier, A Rastetter, C Nava, S Heide, B Keren, C Mignot, C Garel, A Faudet, C Galea, G Mcgillivray, SA Mandelstam, S Odent, M Bahlo, J Mandel, A Piton, A Meneret, E Roze, et al.

Conference Proceedings  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS