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Showing 1–4 of 4 results
Advanced filters: Author: "Guy A. Rouleau" Clear advanced filters

  • A recent study has identified mutations in the ubiquilin 2 gene in patients with dominant X-linked amyotrophic lateral sclerosis (ALS) and ALS–dementia. The results suggest that ubiquilin 2 inclusions and impairment of the protein degradation pathway contribute to the pathogenesis of ALS and possibly other neurodegenerative disorders.

    • Hussein Daoud
    • Guy A. Rouleau
    News & Views
    Nature Reviews Neurology
    Volume: 7, P: 599-600

  • Pharmaceutical industry and medical professionals have been concerned by the lack of novel drugs and drug candidates in the pipeline. These authors discuss evidence to indicate that human monogenic disorders are a valuable, but so far largely neglected, source of novel drug targets.

    • Ryan R. Brinkman
    • Marie-Pierre Dubé
    • Mark E. Samuels
    Reviews
    Nature Reviews Genetics
    Volume: 7, P: 249-260

  • Dozens of new genes with causal roles in motor neuron diseases have recently been identified, which has moved the field beyond the previous focus on superoxide dismutase 1 mutations. These findings implicate several additional pathways in motor neuron diseases, including RNA processing, axonal transport and mitochondrial function.

    • Patrick A. Dion
    • Hussein Daoud
    • Guy A. Rouleau
    Reviews
    Nature Reviews Genetics
    Volume: 10, P: 769-782