Berkovic SF - Search Results

1

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.

Jean-Francois MJ, Lertrit P, Berkovic SF, Crimmins D, Morris J, Marzuki S, Byrne E. Jean-Francois MJ, et al. Among authors: berkovic sf. Aust N Z J Med. 1994 Apr;24(2):188-93. doi: 10.1111/j.1445-5994.1994.tb00556.x. Aust N Z J Med. 1994. PMID: 8042948

2

Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions.

Trounce I, Byrne E, Marzuki S, Dennett X, Sudoyo H, Mastaglia F, Berkovic SF. Trounce I, et al. Among authors: berkovic sf. J Neurol Sci. 1991 Mar;102(1):92-9. doi: 10.1016/0022-510x(91)90098-r. J Neurol Sci. 1991. PMID: 1677417

3

Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

Byrne E, Trounce I, Marzuki S, Dennett X, Berkovic SF, Davis S, Tanaka M, Ozawa T. Byrne E, et al. Among authors: berkovic sf. Acta Neuropathol. 1991;81(3):318-23. doi: 10.1007/BF00305874. Acta Neuropathol. 1991. PMID: 1905454

4

Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy.

Marzuki S, Berkovic SF, Saifuddin Noer A, Kapsa RM, Kalnins RM, Byrne E, Sasmono T, Sudoyo H. Marzuki S, et al. Among authors: berkovic sf. J Neurol Sci. 1997 Feb 12;145(2):155-62. doi: 10.1016/s0022-510x(96)00241-9. J Neurol Sci. 1997. PMID: 9094043

5

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

Vadlamudi L, Dibbens LM, Lawrence KM, Iona X, McMahon JM, Murrell W, Mackay-Sim A, Scheffer IE, Berkovic SF. Vadlamudi L, et al. Among authors: berkovic sf. N Engl J Med. 2010 Sep 30;363(14):1335-40. doi: 10.1056/NEJMoa0910752. N Engl J Med. 2010. PMID: 20879882 Free article.

6

Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives.

Eratne D, Janelidze S, Malpas CB, Loi S, Walterfang M, Merritt A, Diouf I, Blennow K, Zetterberg H, Cilia B, Wannan C, Bousman C, Everall I, Zalesky A, Jayaram M, Thomas N, Berkovic SF, Hansson O, Velakoulis D, Pantelis C, Santillo A; MiND Study Group. Eratne D, et al. Among authors: berkovic sf. Aust N Z J Psychiatry. 2022 Oct;56(10):1295-1305. doi: 10.1177/00048674211058684. Epub 2021 Nov 17. Aust N Z J Psychiatry. 2022. PMID: 35179048

7

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF. Boissé Lomax L, et al. Among authors: berkovic sf. Brain. 2013 Apr;136(Pt 4):1146-54. doi: 10.1093/brain/awt021. Epub 2013 Feb 28. Brain. 2013. PMID: 23449775

8

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.

Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Berkovic SF, et al. Arch Neurol. 1994 Nov;51(11):1125-8. doi: 10.1001/archneur.1994.00540230063014. Arch Neurol. 1994. PMID: 7980108

9

Progressive myoclonus epilepsies: clinical and genetic aspects.

Berkovic SF, Cochius J, Andermann E, Andermann F. Berkovic SF, et al. Epilepsia. 1993;34 Suppl 3:S19-30. doi: 10.1111/j.1528-1167.1993.tb06256.x. Epilepsia. 1993. PMID: 8500430 Review.

10

The first gene for an idiopathic epilepsy: a fruitful collaboration of Australian clinical research and molecular genetics.

Berkovic SF, Mulley JC. Berkovic SF, et al. Aust N Z J Med. 1996 Apr;26(2):154-6. doi: 10.1111/j.1445-5994.1996.tb00877.x. Aust N Z J Med. 1996. PMID: 8744611 Review. No abstract available.

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