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Unbound Medicine.
(Amyotrophic lateral sclerosis ALS )
20,951 results
  • UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target. [Review]
    J Neurol Neurosurg Psychiatry. 2023 Feb 03 [Online ahead of print]Willemse SW, Harley P, … van Es MA
  • Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited treatment options and an incompletely understood pathophysiology. Although genomewide association studies (GWAS) have advanced our understanding of the disease, the precise manner in which risk polymorphisms contribute to disease pathogenesis remains unclear. Of relevance, GWAS have shown that a polymorphism (rs…
  • SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS. [Journal Article]
    Cell Stem Cell. 2023 Feb 02; 30(2):171-187.e14.Linares GR, Li Y, … Ichida JK
  • Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease caused by many diverse genetic etiologies. Although therapeutics that specifically target causal mutations may rescue individual types of ALS, such approaches cannot treat most patients since they have unknown genetic etiology. Thus, there is a critical need for therapeutic strategies that rescue multiple forms of ALS. Here,…
  • Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis. [Journal Article]
    Eur J Neurol. 2023 Feb 02 [Online ahead of print]Lattante S, Sabatelli M, … Conte A
  • CONCLUSIONS: In our cohort, TARDBP variants have a relevant frequency in Italian ALS patients and they are significantly associated to cognitive impairment. Clinical presentation is heterogeneous. Consistent genotype-phenotype correlations are limited to some mutations. A marked phenotypic variability characterizes the p.A382T variant, suggesting a multifactorial/oligogenic pathogenic mechanism.
  • Leveraging process mining for modeling progression trajectories in amyotrophic lateral sclerosis. [Journal Article]
    BMC Med Inform Decis Mak. 2023 Feb 02; 22(Suppl 6):346.Tavazzi E, Gatta R, … Di Camillo B
  • CONCLUSIONS: We exploited PM to provide an overview of the evolution scenarios of an ALS trial population and to preliminary compare it to the progression observed in a clinical cohort. Future work will focus on further improving the understanding of the disease progression mechanisms, by including additional real-world subjects as well as by extending the set of events considered in the impairment trajectories.
  • A cellular taxonomy of the adult human spinal cord. [Journal Article]
    Neuron. 2023 Feb 01; 111(3):328-344.e7.Yadav A, Matson KJE, … Levine AJ
  • The mammalian spinal cord functions as a community of cell types for sensory processing, autonomic control, and movement. While animal models have advanced our understanding of spinal cellular diversity, characterizing human biology directly is important to uncover specialized features of basic function and human pathology. Here, we present a cellular taxonomy of the adult human spinal cord using…
  • The Serotonergic System and Amyotrophic Lateral Sclerosis: A Review of Current Evidence. [Review]
    Cell Mol Neurobiol. 2023 Feb 02 [Online ahead of print]Yang L, Cheng Y, … Li X
  • Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the premature death of motor neurons. Serotonin (5-HT) is a crucial neurotransmitter, and its dysfunction, whether as a contributor or by-product, has been implicated in ALS pathogenesis. Here, we summarize current evidence linking serotonergic alterations to ALS, including results from post-mortem and neuroimagi…
  • Restoring arm function with a soft robotic wearable for individuals with amyotrophic lateral sclerosis. [Journal Article]
    Sci Transl Med. 2023 Feb; 15(681):eadd1504.Proietti T, O'Neill C, … Walsh C
  • Despite promising results in the rehabilitation field, it remains unclear whether upper limb robotic wearables, e.g., for people with physical impairments resulting from neurodegenerative disease, can be made portable and suitable for everyday use. We present a lightweight, fully portable, textile-based, soft inflatable wearable robot for shoulder elevation assistance that provides dynamic active…
  • Exploring the Folding Mechanism of Dimeric Superoxide Dismutase. [Journal Article]
    J Phys Chem B. 2023 Jan 30 [Online ahead of print]Mouro PR, Sanches MN, … Chahine J
  • The Cu/Zn Human Superoxide Dismutase (SOD1) is a dimeric metalloenzyme whose genetic mutations are directly related to amyotrophic lateral sclerosis (ALS), so understanding its folding mechanism is of fundamental importance. Currently, the SOD1 dimer formation is studied via molecular dynamics simulations using a simplified structure-based model and an all-atom model. Results from the simplified …
  • Nutraceuticals and phytotherapeutics for holistic management of amyotrophic lateral sclerosis. [Review]
    3 Biotech. 2023 Feb; 13(2):62.Katiyar D, Singhal S, … Grover P
  • Amyotrophic lateral sclerosis" (ALS) is a progressive neuronal disorder that affects sensory neurons in the brain and spinal cord, causing loss of muscle control. Moreover, additional neuronal subgroups as well as glial cells such as microglia, astrocytes, and oligodendrocytes are also thought to play a role in the aetiology. The disease affects upper motor neurons and lowers motor neurons and le…
  • A high-performance speech neuroprosthesis. [Preprint]
    bioRxiv. 2023 Jan 21Willett F, Kunz E, … Henderson JM
  • Speech brain-computer interfaces (BCIs) have the potential to restore rapid communication to people with paralysis by decoding neural activity evoked by attempted speaking movements into text 1,2 or sound 3,4 .Early demonstrations, while promising, have not yet achieved accuracies high enough for communication of unconstrainted sentences from a large vocabulary 1â€"5 . Here, we demonstrate the fi…
  • A dual MTOR/NAD+ acting gerotherapy. [Preprint]
    bioRxiv. 2023 Jan 19Li J, Kumar S, … Peterson TR
  • The geroscience hypothesis states that a therapy that prevents the underlying aging process should prevent multiple aging related diseases. The mTOR (mechanistic target of rapamycin)/insulin and NAD+ (nicotinamide adenine dinucleotide) pathways are two of the most validated aging pathways. Yet, it’s largely unclear how they might talk to each other in aging. In genome-wide CRISPRa screening wit…
  • Blood-CNS barrier dysfunction in amyotrophic lateral sclerosis: Proposed mechanisms and clinical implications. [Review]
    J Cereb Blood Flow Metab. 2023 Jan 26 [Online ahead of print]Steinruecke M, Lonergan RM, … Stavrou M
  • There is strong evidence for blood-brain and blood-spinal cord barrier dysfunction at the early stages of many neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). Since impairment of the blood-central nervous system barrier (BCNSB) occurs during the pre-symptomatic stages of ALS, the mechanisms underlying this pathology are likely also involved in the ALS disease process. I…
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