Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Lafora's disease"'
Autor:
Tatiana Potes, Santiago Galicchio, Bárbara Rosso, Gabriela Besocke, María del Carmen García, Juan Carlos Avalos
Publikováno v:
Medicina (Buenos Aires), Vol 78, Iss 6, Pp 436-439 (2018)
Lafora's disease is infrequent. However, it is one of the most common causes of progressive myoclonus epilepsy. We present the case of a 19-year-old woman, without comorbidities and normal development that started at 8 years with seizures and that fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::90276112a6eb39abc73adf3601418518
http://www.medicinabuenosaires.com/PMID/30504111.pdf
http://www.medicinabuenosaires.com/PMID/30504111.pdf
Akademický článek
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Autor:
Potes, Tatiana, Galicchio, Santiago, Rosso, Bárbara, Besocke, Gabriela, García, María Del Carmen, Avalos, Juan Carlos
Publikováno v:
Medicina (Buenos Aires), Volume: 78, Issue: 6, Pages: 436-439, Published: DEC 2018
La enfermedad de Lafora es infrecuente; sin embargo, es una de las causas más comunes de epilepsia mioclónica progresiva. Presentamos el caso de una mujer de 19 años sin comorbilidades y pautas madurativas normales, que inició a los 8 años con c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______617::9675c2838bf574ebf8bf4dc51c5d6f1a
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802018000800008&lng=en&tlng=en
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802018000800008&lng=en&tlng=en
Autor:
Roger Sainsbury
Publikováno v:
The Veterinary record. 175(22)
LAFORA'S disease is an inherited, late-onset, myoclonic epilepsy that is believed to affect about 10 per cent of miniature wire-haired dachshunds in the UK. Clinical signs are usually seen in dogs over five years of age. The disease is progressive, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28136110cbbf86ee002021f8b4cb1733
https://pubmed.ncbi.nlm.nih.gov/25480901
https://pubmed.ncbi.nlm.nih.gov/25480901
Autor:
Sonia Maria Dozzi Brucki, Viviana Boccardi Palou, Alzira Alves de Siqueira Carvalho, Maria Sheila Guimarães Rocha, Meire Argentoni
Publikováno v:
Arquivos de Neuro-Psiquiatria. 58:1118-1122
Uma paciente de 16 anos apresentava epilepsia mioclônica causada pela doença de Lafora. A biopsia muscular mostrou padrão vacuolar nas fibras musculares com as reações nicotinamida adenina tetrazolium redutase desidrogenase, hematoxilina-eosina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71e13b4bbdd92df7d7dbe499dd525a5e
https://doi.org/10.1590/s0004-282x2000000600022
https://doi.org/10.1590/s0004-282x2000000600022
Publikováno v:
Journal of Child Neurology. 18:499-501
Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02cea57dd10fdb24608966af4e8a29e
https://doi.org/10.1177/08830738030180070901
https://doi.org/10.1177/08830738030180070901
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
The American Journal of Dermatopathology. 13:410-413
A case of Lafora's disease diagnosed by skin biopsy is reported. Lafora's bodies, the hallmark of myoclonal epilepsy, were present in the epithelial cells of the apocrine glands. Therefore, the skin biopsy of the axilla proved to be very useful in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be4e1afd72a8e44d00ac302d7d8ef8f8
https://doi.org/10.1097/00000372-199108000-00013
https://doi.org/10.1097/00000372-199108000-00013
Autor:
M. A. van 't Hof, H. L. S. M. Busard, Fons J. M. Gabreëls, A. A. W. M. Gabreëls-Festen, W. O. Renier
Publikováno v:
Acta Neuropathologica. 80:554-557
The presence of polyglucosan bodies in sural nerves collected over a 16-year period was studied in relation to age, sex, presence of polyneuropathy, and concomitant presence of central nervous system disorder. Polyglucosan bodies have been seen in on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1568d3935160db212e9749e8c623860b
https://doi.org/10.1007/bf00294618
https://doi.org/10.1007/bf00294618