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Items: 6

1.

Cerebral hypomyelination associated with biallelic variants of FIG4.

Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.

Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28.

PMID:
30740813
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.

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.

4.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC.

Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26.

5.

Guillain-Barré syndrome following pandemic (H1N1) 2009 influenza A immunisation in Victoria: a self-controlled case series.

Crawford NW, Cheng A, Andrews N, Charles PG, Clothier HJ, Day B, Day T, Gates P, Macdonell R, Roberts L, Rodriguez-Casero V, Wijeratne T, Kiers L.

Med J Aust. 2012 Nov 19;197(10):574-8. Erratum in: Med J Aust. 2014 Apr 7;200(6):321. Macdonnell, Richard [corrected to Macdonell, Richard].

PMID:
23163689
6.

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE.

Neurology. 2003 Sep 23;61(6):765-9.

PMID:
14504318

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