Association of the connexin36 gene with juvenile myoclonic epilepsy

Autor: Pierre Thomas, M Rees, Michel Guipponi, M. L. Friis, Mark Gardiner, Catherine Buresi, Athanasios Covanis, Jean-Guy Villemure, Christophe Mas, Stylianos E. Antonarakis, G. P. Pizzolato, Marianne J. Kjeldsen, Nichole Taske, Paolo Meda, Samuel Deutsch, Alain Malafosse

Publikováno v: Mas, C, Taske, N, Deutsch, S, Guipponi, M, Thomas, P, Covanis, A, Friis, M L, Kjeldsen, M J, Pizzolato, G P, Vilemure, J G, Buresi, C, Rees, M, Malafosse, A, Gardiner, M, Antonarakis, S E & Meda, P 2004, ' Association of the connexin36 gene with juvenile myoclonic epilepsy. ', Journal of Medical Genetics, vol. 41, pp. e93 .
Journal of Medical Genetics, Vol. 41, No 7 (2004) P. e93
Journal of Medical Genetics, 41 (7), Article e93. (2004)
Scopus-Elsevier

Epilepsy is one of the most common and serious neurological disorders, with up to 60 million people affected worldwide.1 Juvenile myoclonic epilepsy (JME) is a common familial form that accounts for 5–10% of all epilepsy cases.2 This form belongs t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b970f91fc9fc35753bd235a1a6eccf8
https://portal.findresearcher.sdu.dk/da/publications/eb4bc700-ed9a-11db-821c-000ea68e967b

[Inflammatory and infectious manifestations of the nervous system]

Autor: G P, Pizzolato, R C, Janzer

Publikováno v: Revue medicale de la Suisse romande. 119(10)

The Central Nervous System is the site of a wide variety of inflammatory and infectious diseases. Some disease entities have been in the focus of interest in recent years and progress has been achieved in our understanding of some chosen domains. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::887ce1841f3960182352f46f9692d8f2
https://pubmed.ncbi.nlm.nih.gov/10582492

Decreased nitric oxide production accounts for secondary arteriolar constriction after retinal branch vein occlusion

Autor: G, Donati, C J, Pournaras, G P, Pizzolato, M, Tsacopoulos

Publikováno v: Investigative ophthalmologyvisual science. 38(7)

After retinal branch vein occlusion (BVO), the arteriole crossing the occluded territories is often constricted. This constriction persists up to several weeks and is correlated with the development of extended territories of nonperfused capillaries.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::34609833be07b1b342f76d93711cae16
https://pubmed.ncbi.nlm.nih.gov/9191609

[Early alterations in release of nitrogen monoxide by the retinal after experimental venous occlusion]

Autor: G, Donati, C J, Pournaras, C, Kalogeropoulos, J L, Munoz, S, Dimitracos, G P, Pizzolato, M, Tsacopoulos

Publikováno v: Klinische Monatsblatter fur Augenheilkunde. 208(5)

We present hereby some results indicating that there is a significant decrease in the release of NO by the retina immediately after branch-venous occlusion (BVO).Using an NO microprobe we measured (NO) in the preretinal vitreous of miniature pigs bef

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dda507881d320b7f8ab4de2007600b78
https://pubmed.ncbi.nlm.nih.gov/8766056

A panencephalopathic type of Creutzfeldt-Jakob disease with selective lesions of the thalamic nuclei in 2 Swiss patients

Autor: A, Carota, G P, Pizzolato, P, Gailloud, G, Macchi, J, Fasel, J, Le Floch, F, Cardone

Publikováno v: Clinical neuropathology. 15(3)

Creutzfeldt-Jakob disease (CJD), a subacute spongiform encephalopathy, is generally included among the group of human and animal diseases which is transmissible by a non-conventional agent, the prion, whose expression is conditioned by the host's gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1d5ae6f8620a00352b98fdbc5753f394
https://pubmed.ncbi.nlm.nih.gov/8793245