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Showing 1 to 2 of 2 for “"SmnΔ7 mouse model"”.

  1. Investigating modifiers that can regulate selective vulnerability in mouse models of spinal muscular atrophy

    … in SMA patients and in commonly utilised mouse models of SMA. Despite the many publications in each mouse model of SMA, there has not yet been a comparison of NMJ pathology across different mouse models of SMA. I therefore performed an extensive analysis of NMJ pathology in 20 muscles from …

    edinburgh Repository record for Investigating modifiers that can regulate selective vulnerability in mouse models of spinal muscular atrophy (opens in a new tab)

  2. SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS

    … peripheral systems, integrating data from SMA mouse models, Drosophila, and patient biofluids. First, we show that excitatory amino acids, including L-glutamate, L-glutamine, D-serine, and D-aspartate, are dysregulated in the CNS and cerebrospinal fluid (CSF) of SMA, compromising glutamatergic …

    milano Repository record for SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS (opens in a new tab)