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Items: 49

1.

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

Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC; Victorian Severe Epilepsy of Infancy Study Group, Scheffer IE, Harvey AS.

Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11.

PMID:
29750358
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.

PMID:
29301106
3.

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

Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE.

Epilepsia. 2018 Jan;59(1):e5-e13. doi: 10.1111/epi.13957. Epub 2017 Nov 24.

PMID:
29171013
4.

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.

PMID:
29170271
5.

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
6.

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE.

Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9.

7.

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

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A.

Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.

8.

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.

9.

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
10.

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.

11.

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.

12.

Acute spinal cord syndrome secondary to venous congestion.

Woodcock IR, Coscini N, Mandelstam S, Rodriguez-Casero V, Dabscheck G.

Neurology. 2016 Sep 20;87(12):1302-3. doi: 10.1212/WNL.0000000000003132. No abstract available.

PMID:
27647582
13.

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography.

Farquharson S, Tournier JD, Calamante F, Mandelstam S, Burgess R, Schneider ME, Berkovic SF, Scheffer IE, Jackson GD, Connelly A.

Radiology. 2016 Dec;281(3):896-906. Epub 2016 Jun 29.

PMID:
27355897
14.

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC.

Neurol Genet. 2015 Jul 23;1(2):e17. doi: 10.1212/NXG.0000000000000016. eCollection 2015 Aug.

15.

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
16.

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

Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE.

Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19.

17.

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
18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

Sonography of the pediatric gastrointestinal system.

Arys B, Mandelstam S, Rao P, Kernick S, Kumbla S.

Ultrasound Q. 2014 Jun;30(2):101-17. doi: 10.1097/RUQ.0b013e3182a38dcc. Review.

PMID:
24850026
24.

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

Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos MG, Berkovic SF, Dibbens LM.

Ann Neurol. 2014 May;75(5):782-7. doi: 10.1002/ana.24126. Epub 2014 Apr 14.

PMID:
24585383
25.

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.

26.

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

Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, Jezutkovic N, Weckhuysen S, Mandelstam S, Suls A, Danker T, Guenther E, Scheffer IE, De Jonghe P, Lerche H, Maljevic S.

Ann Neurol. 2014 Mar;75(3):382-94. doi: 10.1002/ana.24080. Epub 2014 Mar 18.

PMID:
24318194
27.

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

Guandalini M, Butler A, Mandelstam S.

J Clin Neurosci. 2014 Feb;21(2):305-10. doi: 10.1016/j.jocn.2013.03.032. Epub 2013 Oct 9.

PMID:
24119957
28.

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

Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group.

Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9.

29.

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

Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, Stark Z.

Am J Med Genet A. 2013 Oct;161A(10):2604-8. doi: 10.1002/ajmg.a.36108. Epub 2013 Aug 15.

PMID:
23950017
30.

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

Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, Oliver KL, Corbett M, Gecz J, Berkovic SF, Jackson GD.

Epilepsy Res. 2013 Jul;105(1-2):240-4. doi: 10.1016/j.eplepsyres.2013.02.005. Epub 2013 Mar 19.

PMID:
23517570
31.

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.

32.

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.

33.

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P.

Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644.

PMID:
22275249
34.

Gliomatosis cerebri in a patient with Ollier disease.

Mitchell RA, Ye JM, Mandelstam S, Lo P.

J Clin Neurosci. 2011 Nov;18(11):1564-6. doi: 10.1016/j.jocn.2011.03.025. Epub 2011 Aug 24.

PMID:
21868231
35.

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
36.

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

Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB.

Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19.

37.

Medial temporal lobe dysgenesis in hypochondroplasia.

Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R.

Am J Med Genet A. 2005 Nov 1;138(4):389-91.

PMID:
16222682
38.

Menkes disease: a rare cause of bilateral inguinal hernias.

Mandelstam SA, Fisher R.

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

PMID:
15845066
39.

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
40.

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

Rodriguez-Casero MV, Mandelstam S, Kornberg AJ, Berkowitz RG.

Int J Pediatr Otorhinolaryngol. 2005 Jan;69(1):123-6.

PMID:
15627460
41.

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
42.

MRI of optic disc edema in childhood idiopathic intracranial hypertension.

Mandelstam S, Moon A.

Pediatr Radiol. 2004 Apr;34(4):362. Epub 2004 Jan 14. No abstract available.

PMID:
14722694
43.

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

Andronikou S, Mandelstam S, Fasulakis S.

Australas Radiol. 2003 Dec;47(4):386-8.

PMID:
14641190
44.

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.

45.

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.

46.

Angiographic features of 26 children with Takayasu's arteritis.

McCulloch M, Andronikou S, Goddard E, Sinclair P, Lawrenson J, Mandelstam S, Beningfield SJ, Millar AJ.

Pediatr Radiol. 2003 Apr;33(4):230-5. Epub 2003 Feb 5.

PMID:
12709750
47.

Acute gastric dilatation.

Ruttmann T, Mandelstam S.

S Afr Med J. 1994 Jun;84(6):364-5. No abstract available.

PMID:
7740396
48.

On the interaction of laser radiation with matter.

Mandelstam SL.

Ann Ist Super Sanita. 1969;5(5):637-44. No abstract available.

PMID:
5397922
49.

Studies of shortwave solar radiation in the U.S.S.R.

Mandelstam SL.

Appl Opt. 1967 Nov 1;6(11):1834-44. doi: 10.1364/AO.6.001834.

PMID:
20062314

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