Výsledky vyhledávání - "Mária Kassay"

Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis

Autor: Erzsebet Kovesdi, Katalin Komlósi, Péter Barsi, Mária Kassay, Kinga Hadzsiev, Béla Melegh

Publikováno v: Orvosi Hetilap. 154:914-918

Tuberous sclerosis is an autosomal dominant disorder, caused by mutations of the TSC1 or TSC2 genes resulting in tumor predisposition. Clinical signs include non-malignant brain tumors, skin, eye, heart and kidney abnormalities. The authors report a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4de62d941e2df45ba579cb37d1f1b1d
https://doi.org/10.1556/oh.2013.29634

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Hippocampal Sclerosis in Severe Myoclonic Epilepsy in Infancy: A Retrospective MRI Study

Autor: József Janszky, Zsuzsanna Siegler, Judit Jerney, András Fogarasi, Péter Barsi, Mária Kassay, Magdolna Neuwirth, Eva Paraicz, Márta Hegyi

Publikováno v: Epilepsia. 46:704-708

Summary: Purpose: Severe myoclonic epilepsy in infancy (SMEI; Dravet's syndrome) is a malignant epilepsy syndrome characterized by early prolonged febrile convulsions (PFCs) with secondary psychomotor delay and a variety of therapy-resistant seizures

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f7a6939fcad8a174d8a12ff5aabef5
https://doi.org/10.1111/j.1528-1167.2005.41604.x

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Erratum: Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis (DOI: 10.1556/OH.2013.29634)

Autor: Béla Melegh, Péter Barsi, Mária Kassay, Erzsebet Kovesdi, Katalin Komlósi, Kinga Hadzsiev

Publikováno v: Orvosi Hetilap. 154:1324-1324

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6223e4f843e481338e36a2dd48f5abfa
https://doi.org/10.1556/oh.2013.29696

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