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  • Morrison Obrien posted an update 3 hours, 35 minutes ago

    A diagnosis of Leigh syndrome was made in 55% of patients, whereas the classic syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP) was rare (8%). Conclusions In this currently largest series of patients with mitochondrial MT-ATP6 mutations, the phenotypic spectrum ranged from asymptomatic to early onset multisystemic neurodegeneration.…[Read more]

  • Morrison Obrien posted an update 1 day, 2 hours ago

    The relevant activity reported with avapritinib in patients carrying the D842 v mutation represents, for first time, an active therapeutic option in this resistant mutant. Crenolanib is a type I selective inhibitor of PDGFRα-resistant mutants, mainly D842 V, which is currently under clinical trial. Summary New potent TKIs are being approved,…[Read more]

  • Morrison Obrien became a registered member 1 day, 2 hours ago

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