Mostrando 81 - 100 Resultados de 2,402 Para Buscar 'Lalola~', tiempo de consulta: 2.13s Limitar resultados
  1. 81
  2. 82
    “…BACKGROUND: Neu-Laxova syndrome is a rare congenital abnormality involving multiple systems. …”
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  3. 83
    “…Lafora disease is a fatal neurodegenerative childhood dementia caused by loss-of-function mutations in either the laforin or malin gene. …”
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  4. 84
  5. 85
    “…PURPOSE: The aim of this study was to elucidate the electro-clinical features and management of the late stage of Lafora disease (LD). METHODS: We investigated the electro-clinical data and medical complications of three LD patients with mutations in EPM2A and two in NHLRC1 genes during the LD late stage. …”
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  6. 86
    “…Inhomogeneous lignin from a canola (rapeseed) straw was isolated and valorized as regularly shaped spherical microparticles for drug delivery formulations. …”
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  7. 87
    “…Deposition of overlong branched glycogen in the fatal epilepsy Lafora disease (LD) indicated involvement of the LD gene products laforin and the E3 ubiquitin ligase malin in regulating glycogen structure. …”
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  8. 88
    “…This book presents the more than six dozen research papers prepared for LACONA V (Lasers in Art Conservation), held in Osnabrueck/Germany in September 2003. …”
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  9. 89
    por Duran, Jordi
    Publicado 2023
    “…Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. …”
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  10. 90
  11. 91
    “…PURPOSE: To evaluate the electro-clinical features in association with laboratory and instrumental correlates of neurodegeneration to detect the progression of Lafora disease (LD). METHODS: We investigated the electro-clinical longitudinal data and CSF Aβ42, p-tau(181) and t-tauAg, amyloid, and (18)F-FDG PET of five unrelated LD families. …”
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  12. 92
    “…Multiple species of Fusarium can contribute to the development of root rot in canola (Brassica napus), making disease management difficult. …”
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  13. 93
    “…However, only a modest increase in tocopherol content has been achieved in canola seed to date. METHODS: In this study, we transformed barley HGGT (HvHGGT) into canola to improve total tocochromanol content in canola seeds. …”
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  14. 94
    “…In this study, we analyze published datasets for canola and maize using four parametric and two machine learning models and demonstrate that failed allele calls in genomic prediction are highly predictive for important agronomic traits. …”
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  15. 95
    “…Lafora disease (LD) is an autosomal recessive, progressive myoclonus epilepsy, which is characterized by the accumulation of polyglucosan inclusion bodies, called Lafora bodies, in the cytoplasm of cells in the central nervous system and in many other organs. …”
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  16. 96
  17. 97
    “…Subsequently, the diagnosis of Lafora disease was confirmed by the identification of a novel homozygous missense mutation in exon 3 of the EPM2A gene (c.538C>G; p.L180V). …”
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  18. 98
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  20. 100
    “…Lafora disease (LD) is a fatal progressive epilepsy essentially caused by loss‐of‐function mutations in the glycogen phosphatase laforin or the ubiquitin E3 ligase malin. …”
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