Výsledky vyhledávání - "Noher de Halac, I."

Neuronal ceroid lipofiscinoses: Revaluation of transmission electron microscopy (TEM) in the genomic era for accuracy definition of CLN5, CLN6, CLN7 and CLN8 diseases

Autor: Cismondi, IA, Pesaola, F, Guelbert, N, Pons, P, Becerra, A, Kohan, R, Noher de Halac, I

Publikováno v: Joint-Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN) and the Scandinavian Neuropathological Society (SNS); 20160922-20160924; Hamburg; DOC16dgnnP30 /20160914/

Introduction: NCL are severe inherited neurodegenerative diseases that occur in all ages. They manifest as refractory epileptic syndrome with progressive intractable seizures, visual failure, dementia, movement disorders, and early death. Mutations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0885fd054825b923bbe24b01735815

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Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder

Autor: Kohan, R., Cismondi, I.A., Adams, H., Bond, M., Brown, R., Cooper, J.D., Krupnik de Hidalgo, P., Kleine Holthaus, S.M., Mole, S.E., Mugnaini, J., Oller de Ramirez, A.M., Pesaola, F., Platt, F.M., Noher de Halac, I., Rautenberg, G.

Publikováno v: Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC

This article addresses the educational issues associated with rare diseases (RD) and in particular the Neuronal Ceroid Lipofuscinoses (NCLs, or CLN diseases) in the curricula of Health Sciences and Professional's Training Programs. Our aim is to deve

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[Untitled]

Autor: Bacman, Noher de Halac I, de Kremer Rd

Publikováno v: Histochemical Journal. 32:133-137

Histoenzymological methods usually performed on muscle fibres have been adapted to assess the functioning of oxidative phosphorylation in human circulating blood lymphocytes and monocytes. Oxidases and dehydrogenases were analysed in lymphocyte/monoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5e3054791df344348305886b61f8e41d
https://doi.org/10.1023/a:1004078705513

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The morphotype, and the residual TPP-1 enzyme activity correlate with the underlying mutations in theTPP1/CLN2gene of Neuronal Ceroid Lipofuscinoses Late Infantile and variant Juvenile

Autor: Noher de Halac, I, Pons, P, Carabelos, N, Guelbert, N, Dodelson de Kremer, R, Cismondi, IA, Alonso, GI, Oller-Ramirez, AM, Kohan, R

Publikováno v: 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN); 20120912-20120915; Erlangen; DOC12dgnnPP4.6 /20120911/

CLN2 (OMIM #204500) is a children's neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme Tripeptidyl-Peptidase-1 (TPP1) encoded by the geneTPP1/CLN2. Inheritance is autosomal recessive. The aim was to investigate the possibl

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