Zobrazeno 1 - 10
of 35
pro vyhledávání: '"S F, Berkovic"'
Autor:
M, Cadieux-Dion, E, Andermann, P, Lachance-Touchette, O, Ansorge, C, Meloche, A, Barnabé, R I, Kuzniecky, F, Andermann, E, Faught, S, Leonberg, J A, Damiano, S F, Berkovic, G A, Rouleau, P, Cossette
Publikováno v:
Clinical genetics. 83(6)
We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c15186f4ef03076520687fd8ae76a37c
https://pubmed.ncbi.nlm.nih.gov/22978711
https://pubmed.ncbi.nlm.nih.gov/22978711
Autor:
D, Champion, S, Pathirana, C, Flynn, A, Taylor, J L, Hopper, S F, Berkovic, T, Jaaniste, W, Qiu
Publikováno v:
European journal of pain (London, England). 16(9)
Growing pains (GP) is a prevalent familial childhood disorder of unknown aetiology. Familial occurrence of GP, and individual and familial association of GP with restless legs syndrome (RLS) has been reported.We applied a twin family design to search
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38e08e913f8179ed15dcb4cb01847598
https://pubmed.ncbi.nlm.nih.gov/22416025
https://pubmed.ncbi.nlm.nih.gov/22416025
Publikováno v:
BJOG : an international journal of obstetrics and gynaecology. 116(6)
While most women with epilepsy can expect a normal pregnancy outcome, epilepsy remains a significant contributor to both maternal and perinatal morbidity. Pre-pregnancy planning must address reliable contraception and optimisation of antiepileptic dr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dfa4c6f89f0e58e3575cd41a5d512c9e
https://pubmed.ncbi.nlm.nih.gov/19432564
https://pubmed.ncbi.nlm.nih.gov/19432564
Autor:
S F Berkovic, A Arzimanoglou, R Kuzniecky, A S Harvey, André Luis Fernandes Palmini, Frederick Andermann
Publikováno v:
Repositório Institucional PUCRS
Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron:PUC_RS
Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS)
instacron:PUC_RS
Submitted by Biblioteca Suporte PUCRS (biblioteca.suporte@pucrs.br) on 2022-05-18T21:05:51Z No. of bitstreams: 2 Hypothalamic_hamartoma_and_seizures_A_treatable_epileptic_encephalopathy.pdf: 145675 bytes, checksum: c60ac0161722a69b9ee5f5b7537400c6 (M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::e8b0303f33382b63741f277deaf2284e
Autor:
S F, Berkovic
Publikováno v:
Medicine and law. 20(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5dc1dd186bbeb378f92c602d7bcdab75
https://pubmed.ncbi.nlm.nih.gov/11817386
https://pubmed.ncbi.nlm.nih.gov/11817386
Publikováno v:
Neurology. 57(11 Suppl 4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b4adb54b6f6a3f19cca261aff8f940bd
https://pubmed.ncbi.nlm.nih.gov/11775607
https://pubmed.ncbi.nlm.nih.gov/11775607
Publikováno v:
Annals of neurology. 49(1)
Whereas some patients with epilepsy have known acquired or genetic causes, in many the cause is unknown. By analyzing monozygotic twins, discordant for epilepsy, subtle etiological factors may be detected. We analyzed 12 monozygotic, discordant twins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd364ecffa1bd87031d65b1e2a26b0e9
https://pubmed.ncbi.nlm.nih.gov/11782996
https://pubmed.ncbi.nlm.nih.gov/11782996
Autor:
S F, Berkovic, R, Ottman
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 2(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::04cd0e7b98e002773d69120c12751217
https://pubmed.ncbi.nlm.nih.gov/11174147
https://pubmed.ncbi.nlm.nih.gov/11174147
Autor:
S F, Berkovic
Publikováno v:
Neurology. 55(5 Suppl 1)
Recent major advances in understanding the clinical and molecular genetics of epilepsies have come from the twin and family studies conducted to help unravel this complex group of conditions. Analysis of familial epilepsies also provides unique insig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d320cac9d5a25ba61efbb6dd4568853d
https://pubmed.ncbi.nlm.nih.gov/11001356
https://pubmed.ncbi.nlm.nih.gov/11001356
Autor:
S F, Berkovic
Publikováno v:
Advances in neurology. 83
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7dd7017408e1383a548e21fa0bc36955
https://pubmed.ncbi.nlm.nih.gov/10999186
https://pubmed.ncbi.nlm.nih.gov/10999186