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Items: 24

1.

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

Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ.

Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17.

2.

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

Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ.

Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005.

3.

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

Manikkam SA, Chetcuti K, Howell KB, Savarirayan R, Fink AM, Mandelstam SA.

AJNR Am J Neuroradiol. 2018 Feb;39(2):380-384. doi: 10.3174/ajnr.A5468. Epub 2017 Nov 23.

4.

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

Myers KA, Bennett MF, Chow CW, Carden SM, Mandelstam SA, Bahlo M, Scheffer IE.

Am J Med Genet A. 2018 Jan;176(1):230-234. doi: 10.1002/ajmg.a.38549. Epub 2017 Nov 21.

PMID:
29160035
5.

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

Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE.

Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25.

6.

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

Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF.

Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929.

PMID:
28380698
7.

Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases.

Myers KA, McMahon JM, Mandelstam SA, Mackay MT, Kalnins RM, Leventer RJ, Scheffer IE.

Pediatrics. 2017 Apr;139(4). pii: e20161933. doi: 10.1542/peds.2016-1933. Epub 2017 Mar 22.

8.

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

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.

9.

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Ha TT, Sadleir LG, Mandelstam SA, Paterson SJ, Scheffer IE, Gecz J, Corbett MA.

Am J Med Genet A. 2016 Apr;170A(4):1059-63. doi: 10.1002/ajmg.a.37527. Epub 2015 Dec 28.

PMID:
26708157
10.

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

Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ.

Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12.

PMID:
26285051
11.

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

Scerri T, Riseley JR, Gillies G, Pope K, Burgess R, Mandelstam SA, Dibbens L, Chow CW, Maixner W, Harvey AS, Jackson GD, Amor DJ, Delatycki MB, Crino PB, Berkovic SF, Scheffer IE, Bahlo M, Lockhart PJ, Leventer RJ.

Ann Clin Transl Neurol. 2015 May;2(5):575-80. doi: 10.1002/acn3.191. Epub 2015 Mar 12.

12.

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

Harvey AS, Mandelstam SA, Maixner WJ, Leventer RJ, Semmelroch M, MacGregor D, Kalnins RM, Perchyonok Y, Fitt GJ, Barton S, Kean MJ, Fabinyi GC, Jackson GD.

Neurology. 2015 May 19;84(20):2021-8. doi: 10.1212/WNL.0000000000001591. Epub 2015 Apr 17.

13.

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

Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE; EuroEPINOMICS RES Consortium.

Neurology. 2015 Mar 3;84(9):951-8. doi: 10.1212/WNL.0000000000001305. Epub 2015 Feb 11.

14.

GRIN2A: an aptly named gene for speech dysfunction.

Turner SJ, Mayes AK, Verhoeven A, Mandelstam SA, Morgan AT, Scheffer IE.

Neurology. 2015 Feb 10;84(6):586-93. doi: 10.1212/WNL.0000000000001228. Epub 2015 Jan 16.

15.

Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia.

Pardoe HR, Mandelstam SA, Hiess RK, Kuzniecky RI, Jackson GD; Alzheimer's Disease Neuroimaging Initiative; Epilepsy Phenome/Genome Project Investigators.

Epilepsy Res. 2015 Jan;109:40-7. doi: 10.1016/j.eplepsyres.2014.10.010. Epub 2014 Oct 30.

16.

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

Leventer RJ, Jansen FE, Mandelstam SA, Ho A, Mohamed I, Sarnat HB, Kato M, Fukasawa T, Saitsu H, Matsumoto N, Itoh M, Kalnins RM, Chow CW, Harvey AS, Jackson GD, Crino PB, Berkovic SF, Scheffer IE.

Epilepsia. 2014 Mar;55(3):e22-6. doi: 10.1111/epi.12533. Epub 2014 Feb 6.

17.

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

Mandelstam SA, Leventer RJ, Sandow A, McGillivray G, van Kogelenberg M, Guerrini R, Robertson S, Berkovic SF, Jackson GD, Scheffer IE.

AJNR Am J Neuroradiol. 2013 Feb;34(2):432-8. doi: 10.3174/ajnr.A3427. Epub 2013 Jan 24.

18.

Challenges of the anatomy and diffusion tensor tractography of the Meyer loop.

Mandelstam SA.

AJNR Am J Neuroradiol. 2012 Aug;33(7):1204-10. doi: 10.3174/ajnr.A2652. Epub 2012 Mar 15. Review.

19.

Pediatric ocular sonography.

Silva CT, Brockley CR, Crum A, Mandelstam SA.

Semin Ultrasound CT MR. 2011 Feb;32(1):14-27. doi: 10.1053/j.sult.2010.09.005. Review.

PMID:
21277488
20.

Menkes disease: a rare cause of bilateral inguinal hernias.

Mandelstam SA, Fisher R.

Australas Radiol. 2005 Apr;49(2):192-5.

PMID:
15845066
21.

Pulmonary capillary haemangiomatosis in a premature infant.

Silva CJ, Massie J, Mandelstam SA.

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

PMID:
15714310
22.

Aortic duplication artefact in a 14-year-old girl.

Mandelstam SA, Brockley C.

Pediatr Radiol. 2004 Jun;34(6):508. Epub 2004 Jan 31. No abstract available.

PMID:
14758522
23.

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

Mitchell LA, Harvey AS, Coleman LT, Mandelstam SA, Jackson GD.

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

24.

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

Mandelstam SA, Cook D, Fitzgerald M, Ditchfield MR.

Arch Dis Child. 2003 May;88(5):387-90; discussion 387-90.

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