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Autor:
F, Pesaola, R, Kohan, I A, Cismondi, N, Guelbert, P, Pons, A M, Oller-Ramirez, I, Noher de Halac
Publikováno v:
Revista de neurologia. 68(4)
CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage disorders, most frequent in childhood. A putative 286 amino acids transmembrane CLN8 protein with unknown f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f675ec49402c2310c0c54b9d20b5242e
https://pubmed.ncbi.nlm.nih.gov/30741402
https://pubmed.ncbi.nlm.nih.gov/30741402
Autor:
Romina Kohan, Norberto Guelbert, F Pesaola, A M Oller-Ramirez, Inés Adriana Cismondi, I Noher de Halac, Patricia Pons
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
La enfermedad CLN8 es uno de los 13 tipos genéticos reconocidos de lipofuscinosis neuronal ceroidea, un grupo de trastornos neurodegenerativos de acumulación lisosómica, los más frecuentes en la infancia. La causan mutaciones en la proteína tran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c72ebdb52f6cae1f1076055d346c9fd3
https://www.neurologia.com/articulo/2018217
https://www.neurologia.com/articulo/2018217
Autor:
R. Kohan, Graciela Alonso, V. Tapia Anzolini, Ana María Oller-Ramírez, Inés Adriana Cismondi, Norberto Guelbert, Sara E. Mole, I. Noher de Halac, R. Dodelson de Kremer
Publikováno v:
Current Pharmaceutical Biotechnology. 12:867-883
The Neuronal Ceroid Lipofuscinoses (NCLs) are lysosomal storage diseases (LSDs) affecting the central nervous system (CNS), with generally with recessive inheritance. They are characterized by pathological lipofuscin-like material accumulating in cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac3b9cbd2fef7ed738e57b118752d68
https://doi.org/10.2174/138920111795542633
https://doi.org/10.2174/138920111795542633
Autor:
IA Cismondi, R. Kohan, R. Dodelson de Kremer, N Guelbert, Michael Fietz, V. Tapia Anzolini, VJ Muller, AM Oller Ramírez, I. Noher de Halac
Publikováno v:
Clinical Genetics. 76:372-382
The neuronal ceroid lipofuscinoses (NCLs) are a family of progressive neurodegenerative diseases that are characterized by the cellular accumulation of ceroid lipofuscin-like bodies. NCL type 1 (CLN1) and type 2 (CLN2) are caused by deficiencies of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f202ecf7943b479ac3495ba773ad727e
https://doi.org/10.1111/j.1399-0004.2009.01214.x
https://doi.org/10.1111/j.1399-0004.2009.01214.x
Autor:
J. Alroy, T. Braulke, I.A. Cismondi, J.D. Cooper, D. Creegan, M. Elleder, C. Kitzmüller, R. Kohan, A. Kohlschütter, S.E Mole, I. Noher de Halac, R. Pfannl, A. Quitsch, A. Schulz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4bbd61ab134a85784a1e75513b6f488
https://doi.org/10.1093/med/9780199590018.003.0010
https://doi.org/10.1093/med/9780199590018.003.0010
Publikováno v:
Biocell : official journal of the Sociedades Latinoamericanas de Microscopia Electronica ... et. al. 27(1)
Cell wall pectins are some of the most complex biopolymers known, and yet their functions remain largely mysterious. The aim of this paper was to deepen the study of the spatial pattern of pectin distribution in the aperture of Oenothera hookeri.vela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::96fdf8d7be291b4852890e377f4fa164
https://pubmed.ncbi.nlm.nih.gov/12875246
https://pubmed.ncbi.nlm.nih.gov/12875246
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
instname
Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
Cell wall pectins are some of the most complex biopolymers known, and yet their functions remain largely mysterious. The aim of this paper was to deepen the study of the spatial pattern of pectin distribution in the aperture of Oenothera hookeri.vela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c8a092768766e16954e6fc3e38c5975
http://hdl.handle.net/10261/2212
http://hdl.handle.net/10261/2212
Autor:
R D, De Kremer, A, Paschini-Capra, S, Bacman, C, Argaraña, G, Civallero, R I, Kelley, N, Guelbert, A, Latini, I, Noher de Halac, A, Giner-Ayala, J, Johnston, R, Proujansky, I, Gonzalez, C, Depetris-Boldini, A, Oller-Ramírez, C, Angaroni, R A, Theaux, E, Hliba, E, Juaneda
Publikováno v:
American journal of medical genetics. 99(2)
An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::490d351038f2e135c695550063309034
https://pubmed.ncbi.nlm.nih.gov/11241464
https://pubmed.ncbi.nlm.nih.gov/11241464
Autor:
L D, Martínez, I, Noher de Halac
Publikováno v:
Biocell : official journal of the Sociedades Latinoamericanas de Microscopia Electronica ... et. al. 24(3)
Anther culture of O. hookeri on Murashige and Skoog (1962) medium supplemented with 2 mg l-1 2,4-dichlorophenoxyacetic acid and 2 mg-1 1-naphthaleneacetic acid produced callus formation. When subcultured onto medium lacking auxin, the callus regenera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::603eac76b260287937142e6e771a86bb
https://pubmed.ncbi.nlm.nih.gov/11201660
https://pubmed.ncbi.nlm.nih.gov/11201660