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zadetkov: 70
1.
  • LRRK2 G2019S mutant exacerb... LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway
    Bravo-San Pedro, José M; Niso-Santano, Mireia; Gómez-Sánchez, Rubén ... Cellular and molecular life sciences : CMLS, 01/2013, Letnik: 70, Številka: 1
    Journal Article
    Recenzirano

    Mutations in leucine-rich repeat kinase 2 (LRRK2) are a major cause of familial Parkinsonism, and the G2019S mutation of LRRK2 is one of the most prevalent mutations. The deregulation of autophagic ...
Celotno besedilo
Dostopno za: UL
2.
  • A More Homogeneous Phenotyp... A More Homogeneous Phenotype in Parkinson's Disease Related to R1441G Mutation in the LRRK2 Gene
    Vinagre-Aragón, Ana; Campo-Caballero, David; Mondragón-Rezola, Elisabet ... Frontiers in neurology, 03/2021, Letnik: 12
    Journal Article
    Recenzirano
    Odprti dostop

    Parkinson's disease (PD) is characterized by a great clinical heterogeneity. Nevertheless, the biological drivers of this heterogeneity have not been completely elucidated and are likely to be ...
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Dostopno za: UL

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3.
  • The unexpected co-occurrenc... The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics
    Moreno, Fermin; Indakoetxea, Begoña; Barandiaran, Myriam ... PloS one, 06/2017, Letnik: 12, Številka: 6
    Journal Article
    Recenzirano
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    The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD). We aimed to investigate the ...
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Dostopno za: UL

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4.
  • GIGYF2 mutation in late-ons... GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment
    Ruiz-Martinez, Javier; Krebs, Catharine E; Makarov, Vladimir ... Journal of human genetics, 10/2015, Letnik: 60, Številka: 10
    Journal Article
    Recenzirano
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    Although in the last two decades there has been considerable progress in understanding the genetic basis of Parkinson's disease (PD), the majority of PD is sporadic and its genetic causes are largely ...
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5.
  • Genetic variability related... Genetic variability related to serum uric acid concentration and risk of Parkinson's disease
    González-Aramburu, Isabel; Sánchez-Juan, Pascual; Jesús, Silvia ... Movement disorders, October 2013, Letnik: 28, Številka: 12
    Journal Article
    Recenzirano

    ABSTRACT Background Low serum uric acid (UA) levels have been associated with increased Parkinson's disease (PD) risk and accelerated disease progression. We analyzed the effect of polymorphisms in 9 ...
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Dostopno za: UL
6.
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7.
  • R1441G but not G2019S mutat... R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils
    Fan, Ying; Nirujogi, Raja S.; Garrido, Alicia ... Acta neuropathologica, 09/2021, Letnik: 142, Številka: 3
    Journal Article
    Recenzirano
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    Heterozygous gain-of-kinase function variants in LRRK2 (leucine-rich repeat kinase 2) cause 1–2% of all cases of Parkinson’s disease (PD) albeit with incomplete and age-dependent penetrance. All ...
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Dostopno za: UL

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8.
  • DAT imaging and clinical bi... DAT imaging and clinical biomarkers in relatives at genetic risk for LRRK2 R1441G Parkinson's disease
    Bergareche, Alberto; Rodríguez-Oroz, Maria Cruz; Estanga, Ainara ... Movement disorders, March 2016, Letnik: 31, Številka: 3
    Journal Article
    Recenzirano

    ABSTRACT Background The objective of this study was to study motor and nonmotor symptoms and striatal dopaminergic denervation, as well as the relationship between them, in a cohort of asymptomatic ...
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Dostopno za: UL
9.
  • The MAPK1/3 pathway is esse... The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts
    Bravo-San Pedro, José M.; Gómez-Sánchez, Rubén; Niso-Santano, Mireia ... Autophagy, 10/2012, Letnik: 8, Številka: 10
    Journal Article
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    The link between the deregulation of autophagy and cell death processes can be essential in the development of several neurodegenerative diseases, such as Parkinson disease (PD). However, the ...
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10.
  • Olfactory deficits and card... Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations
    Ruiz-Martínez, Javier; Gorostidi, Ana; Goyenechea, Estibaliz ... Movement disorders, September 2011, Letnik: 26, Številka: 11
    Journal Article
    Recenzirano
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    It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor phase. However, it is not clear what value ...
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Dostopno za: UL
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zadetkov: 70

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