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  • Showing results for mandelstam a. Search instead for Madestam A (1 item)
1.

Direct observation of confined acoustic phonon polarization branches in free-standing semiconductor nanowires.

Kargar F, Debnath B, Kakko JP, Säynätjoki A, Lipsanen H, Nika DL, Lake RK, Balandin AA.

Nat Commun. 2016 Nov 10;7:13400. doi: 10.1038/ncomms13400.

2.

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
3.

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.

PMID:
27355897
4.

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.

5.

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.

PMID:
26708157
6.

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.

7.

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.

PMID:
26285051
8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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
14.

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.

PMID:
24585383
15.

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.

16.

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.

PMID:
24318194
17.

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.

PMID:
24119957
18.

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.

19.

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.

PMID:
23950017
20.

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.

PMID:
23517570
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