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To the best of our knowledge, we used for the first time SMA-derived primary cortical neurons as a defective in vitro disease model, demonstrating its reliability for preliminary drug efficacy screening for cells viability and morphology

Delays in attainment of some important developmental milestones including delays in speech and in walking were associated with increased lactate and lactate containing ratios and with increased levels of taurine/ethanolamine, respectively

Clinical journal of the American Society of Nephrology: CJASN

13 Skin biopsy easy to do Skin biopsy for evaluating intraepidermal nerve fiber density is one of the most widely used tests for small fiber neuropathy