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Mostrando 721 - 740 Resultados de 1,213 Para Buscar '"motor neurone disease"', tiempo de consulta: 0.73s Limitar resultados
  1. 721
    “…BSCL2 gene mutations result in genetic diseases including CGL2, progressive encephalopathy with or without lipodystrophy (also called Celia’s encephalopathy), and BSCL2-associated motor neuron diseases. Abnormal expression of seipin has also been found in hepatic steatosis, neurodegenerative diseases, glioblastoma stroke, cardiac hypertrophy, and other diseases. …”
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    Role of Seipin in Human Diseases and Experimental Animal Models
  2. 722
    “…Such a presentation can be mistaken for bulbar onset motor neuron disease or as one of the rare oculopharyngeal myopathies. …”
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    MuSK-Myasthenia Gravis Unmasked by Hydroxychloroquine
  3. 723
    “…As a result, there has been an increasing interest in the use of these therapies to treat motor neuron diseases (MNDs), for which many potential molecular targets have been discovered. …”
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    Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives
  4. 724
    “…A multitude of in vitro models based on induced pluripotent stem cell (iPSC)-derived motor neurons (MNs) have been developed to investigate the underlying causes of selective MN degeneration in motor neuron diseases (MNDs). For instance, spheroids are simple 3D models that have the potential to be generated in large numbers that can be used across different assays. …”
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    An Optimized Workflow to Generate and Characterize iPSC-Derived Motor Neuron (MN) Spheroids
  5. 725
    “…De novo mutations in different tubulin genes are known to cause lissencephaly, microcephaly, polymicrogyria, motor neuron disease, and female infertility. The diverse clinical features associated with these maladies have been attributed to the expression pattern of individual tubulin genes, as well as their distinct Functional repertoire. …”
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    MAPping tubulin mutations
  6. 726
    por Tyler, Sheena E.B., Tyler, Luke D.K.
    Publicado 2023
    “…This study aimed to find plants with therapeutic bioactivities for a range of NDs. 1339 of the 2001 plant species were found to have a bioactivity from the literature of therapeutic relevance to NDs such as Parkinson’s disease, Huntington’s disease, AD, motor neurone diseases, multiple sclerosis, prion diseases, Neimann-Pick disease, glaucoma, Friedreich's ataxia and Batten disease. 43 types of bioactivities were found, such as reducing protein misfolding, neuroinflammation, oxidative stress and cell death, and promoting neurogenesis, mitochondrial biogenesis, autophagy, longevity, and anti-microbial activity. …”
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    Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases
  7. 727
    “…As such, they have become targets for treating neurological diseases, including Alzheimer’s disease (AD), Huntington’s disease (HD), Parkinson’s disease (PD), multiple sclerosis (MS), Rett syndrome (RS), developmental and epileptic encephalopathies (DEE), and motor neuron disease/amyotrophic lateral sclerosis (MND/ALS). …”
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    Targeting Sigma Receptors for the Treatment of Neurodegenerative and Neurodevelopmental Disorders
  8. 728
    “…MAVERICK has already facilitated the identification of a novel disease gene causing a degenerative motor neuron disease. These results represent a significant step towards automated identification of causal variants in patients with Mendelian diseases.…”
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    Deep structured learning for variant prioritization in Mendelian diseases
  9. 729
    “…Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). It is currently incurable and treatment is largely limited to supportive care. …”
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    Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery
  10. 730
    “…FINDINGS: Mouse model of motor neuron disease (SOD1-G93A) was injected intramuscularly with Brain-derived neurotrophic factor (BDNF-TTC) encoding or control naked DNA plasmids. qRT-PCR expression analysis was performed for BDNF and HK genes Rn18 S, glyceraldehyde-3-phosphate dehydrogenase (Gapdh) and β-actin (Actb). …”
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    Effects of gene therapy on muscle 18S rRNA expression in mouse model of ALS
  11. 731
    “…Amyotrophic lateral sclerosis (ALS) is the most frequent adult-onset motor neuron disease, and recent evidence has suggested that endoplasmic reticulum (ER) stress signaling is involved in the pathogenesis of ALS. …”
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    An Inducer of VGF Protects Cells against ER Stress-Induced Cell Death and Prolongs Survival in the Mutant SOD1 Animal Models of Familial ALS
  12. 732
    “…BACKGROUND: The developmental morphogen sonic hedgehog (Shh) may continue to play a trophic role in the support of terminally-differentiated motor neurons, of potential relevance to motor neuron disease. In addition, it may support the proliferation and differentiation of endogenous stem cells along motor neuronal lineages. …”
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    Trophic and proliferative effects of Shh on motor neurons in embryonic spinal cord culture from wildtype and G93A SOD1 mice
  13. 733
    “…METHODS: The role of HSP27 in the pathogenesis of neurodegenerative disorders such as frontotemporal lobar degeneration (FTLD), Alzheimer’s disease (AD) and motor neuron disease (MND) was investigated. We used immunohistochemical and Western blot analysis to determine the distribution and amount of this protein in the frontal and temporal cortices of diseased and control subjects. …”
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    Expression of one important chaperone protein, heat shock protein 27, in neurodegenerative diseases
  14. 734
    “…Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease. It is typically fatal within 2–5 years of symptom onset. …”
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    Risk factors for amyotrophic lateral sclerosis
  15. 735
    “…Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in which upper and lower motor neurons degenerate, leading to muscle atrophy, paralysis, and death within 3 to 5 years of onset. …”
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    Acute Traumatic Brain Injury Does Not Exacerbate Amyotrophic Lateral Sclerosis in the SOD1(G93A) Rat Model1,2,3
  16. 736
    “…Amyotrophic lateral sclerosis (ALS) is a multifactorial lethal motor neuron disease with no known treatment. Although the basic mechanism of its degenerative pathogenesis remains poorly understood, a subcellular spatial alteration in RNA metabolism is thought to play a key role. …”
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    ALS Along the Axons – Expression of Coding and Noncoding RNA Differs in Axons of ALS models
  17. 737
    “…In all, we show that mutant FUS triggers toxic events in both motor neurons and neighboring cells to elicit motor neuron disease. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s00401-017-1687-9) contains supplementary material, which is available to authorized users.…”
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    Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis
  18. 738
    “…Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by toxic gain-of-function of the androgen receptor (AR). …”
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    Selective Modulation of the Androgen Receptor Activation Function-2 Domain Rescues Degeneration in Spinal Bulbar Muscular Atrophy
  19. 739
    por Hinchcliffe, Michael, Smith, Alan
    Publicado 2017
    “…Amyotrophic lateral sclerosis (ALS) is the commonest form of motor neuron disease and is a fatal, degenerative, multisystem disorder affecting upper and/or lower motor neurons in the motor cortex, brain stem, and spinal cord. …”
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    Riluzole: real-world evidence supports significant extension of median survival times in patients with amyotrophic lateral sclerosis
  20. 740
    “…Of these, 17 reports were on patients with myopathy, 15 reports on myasthenia gravis, 9 reports on motor neuron diseases and 2 reports on neuropathies. CONCLUSIONS: Majority of the articles reviewed report successful use of sugammadex to reverse steroidal muscle relaxants, especially rocuronium, in patients with neuromuscular diseases. …”
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    Use of sugammadex in patients with neuromuscular disorders: a systematic review of case reports
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