Pesquisa | BVS Violência e Saúde

1.

Bilateral volume reduction in posterior hippocampus in psychosis of epilepsy.

Allebone, James; Kanaan, Richard; Maller, Jerome; O'Brien, Terry; Mullen, Saul Alator; Cook, Mark; Adams, Sophia J; Vogrin, Simon; Vaughan, David N; Connelly, Alan; Kwan, Patrick; Berkovic, S F; D'Souza, Wendyl J; Jackson, Graeme; Velakoulis, Dennis; Wilson, Sarah J.

J Neurol Neurosurg Psychiatry ; 90(6): 688-694, 2019 06.

Artigo em Inglês | MEDLINE | ID: mdl-30796132

2.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Cadieux-Dion, M; Andermann, E; Lachance-Touchette, P; Ansorge, O; Meloche, C; Barnabé, A; Kuzniecky, R I; Andermann, F; Faught, E; Leonberg, S; Damiano, J A; Berkovic, S F; Rouleau, G A; Cossette, P.

Clin Genet ; 83(6): 571-5, 2013 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22978711

3.

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

Steinlein, O K; Mulley, J C; Propping, P; Wallace, R H; Phillips, H A; Sutherland, G R; Scheffer, I E; Berkovic, S F.

Nat Genet ; 11(2): 201-3, 1995 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-7550350

4.

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.

Phillips, H A; Scheffer, I E; Berkovic, S F; Hollway, G E; Sutherland, G R; Mulley, J C.

Nat Genet ; 10(1): 117-8, 1995 May.

Artigo em Inglês | MEDLINE | ID: mdl-7647781

5.

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Wallace, R H; Wang, D W; Singh, R; Scheffer, I E; George, A L; Phillips, H A; Saar, K; Reis, A; Johnson, E W; Sutherland, G R; Berkovic, S F; Mulley, J C.

Nat Genet ; 19(4): 366-70, 1998 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-9697698

6.

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

Wallace, R H; Marini, C; Petrou, S; Harkin, L A; Bowser, D N; Panchal, R G; Williams, D A; Sutherland, G R; Mulley, J C; Scheffer, I E; Berkovic, S F.

Nat Genet ; 28(1): 49-52, 2001 May.

Artigo em Inglês | MEDLINE | ID: mdl-11326275

7.

Expression of the transmembrane lysosomal protein SCARB2/Limp-2 in renin secretory granules controls renin release.

Lee, D; Desmond, M J; Fraser, S A; Katerelos, M; Gleich, K; Berkovic, S F; Power, D A.

Nephron Exp Nephrol ; 122(3-4): 103-13, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-23635510

8.

Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2.

Desmond, M J; Lee, D; Fraser, S A; Katerelos, M; Gleich, K; Martinello, P; Li, Y Q; Thomas, M C; Michelucci, R; Cole, A J; Saftig, P; Schwake, M; Stapleton, D; Berkovic, S F; Power, D A.

Am J Physiol Renal Physiol ; 300(6): F1437-47, 2011 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-21429972

9.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Dibbens, L M; Michelucci, R; Gambardella, A; Andermann, F; Rubboli, G; Bayly, M A; Joensuu, T; Vears, D F; Franceschetti, S; Canafoglia, L; Wallace, R; Bassuk, A G; Power, D A; Tassinari, C A; Andermann, E; Lehesjoki, A E; Berkovic, S F.

Ann Neurol ; 66(4): 532-6, 2009 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-19847901

10.

A potassium channel mutation in neonatal human epilepsy.

Biervert, C; Schroeder, B C; Kubisch, C; Berkovic, S F; Propping, P; Jentsch, T J; Steinlein, O K.

Science ; 279(5349): 403-6, 1998 Jan 16.

Artigo em Inglês | MEDLINE | ID: mdl-9430594

11.

The management of epilepsy in pregnancy.

Walker, S P; Permezel, M; Berkovic, S F.

BJOG ; 116(6): 758-67, 2009 May.

Artigo em Inglês | MEDLINE | ID: mdl-19432564

12.

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Fox, J W; Lamperti, E D; Eksioglu, Y Z; Hong, S E; Feng, Y; Graham, D A; Scheffer, I E; Dobyns, W B; Hirsch, B A; Radtke, R A; Berkovic, S F; Huttenlocher, P R; Walsh, C A.

Neuron ; 21(6): 1315-25, 1998 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-9883725

13.

Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.

Eksioglu, Y Z; Scheffer, I E; Cardenas, P; Knoll, J; DiMario, F; Ramsby, G; Berg, M; Kamuro, K; Berkovic, S F; Duyk, G M; Parisi, J; Huttenlocher, P R; Walsh, C A.

Neuron ; 16(1): 77-87, 1996 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-8562093

14.

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Heron, S E; Cox, K; Grinton, B E; Zuberi, S M; Kivity, S; Afawi, Z; Straussberg, R; Berkovic, S F; Scheffer, I E; Mulley, J C.

J Med Genet ; 44(12): 791-6, 2007 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-17675531

15.

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.

Dibbens, L M; Ekberg, J; Taylor, I; Hodgson, B L; Conroy, S-J; Lensink, I L; Kumar, S; Zielinski, M A; Harkin, L A; Sutherland, G R; Adams, D J; Berkovic, S F; Scheffer, I E; Mulley, J C; Poronnik, P.

Genes Brain Behav ; 6(8): 750-5, 2007 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-17331106

16.

Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.

Xu, R; Thomas, E A; Gazina, E V; Richards, K L; Quick, M; Wallace, R H; Harkin, L A; Heron, S E; Berkovic, S F; Scheffer, I E; Mulley, J C; Petrou, S.

Neuroscience ; 148(1): 164-74, 2007 Aug 10.

Artigo em Inglês | MEDLINE | ID: mdl-17629415

17.

Acetylation of histones in isolated avian erythroid nuclei.

Berkovic, S F; Mauritzen, C M.

Biochim Biophys Acta ; 475(1): 160-7, 1977 Mar 02.

Artigo em Inglês | MEDLINE | ID: mdl-14685

18.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

Licchetta, L; Bisulli, F; Fietz, M; Valentino, M L; Morbin, M; Mostacci, B; Oliver, K L; Berkovic, S F; Tinuper, P.

Eur J Med Genet ; 58(10): 540-4, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26360874

19.

Progressive dystonia with bilateral putaminal hypodensities.

Berkovic, S F; Karpati, G; Carpenter, S; Lang, A E.

Arch Neurol ; 44(11): 1184-7, 1987 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-3314812

20.

Proximal motor neuropathy, dermato-endocrine syndrome, and IgG kappa paraproteinemia.

Berkovic, S F; Scarlett, J D; Symington, G R; Dennett, X; Woodruff, R K.

Arch Neurol ; 43(8): 845-8, 1986 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-3089203

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