Mario da Cunha Saporta

Assistant Professor of Clinical

  • 548 Citations
19982020

Research output per year

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Research Output

A Chemically Defined Common Medium for Culture of C2C12 Skeletal Muscle and Human Induced Pluripotent Stem Cell Derived Spinal Spheroids

Besser, R. R., Bowles, A. C., Alassaf, A., Carbonero, D., Maciel, R., da Cunha Saporta, M. & Agarwal, A., Jan 1 2020, (Accepted/In press) In : Cellular and Molecular Bioengineering.

Research output: Contribution to journalArticle

  • A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

    Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN), Mar 3 2020, In : Neurology. 94, 9, p. e884-e896

    Research output: Contribution to journalComment/debate

  • Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    Inherited Neuropathy Consortium, May 1 2020, In : Nature genetics. 52, 5, p. 473-481 9 p.

    Research output: Contribution to journalArticle

  • De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

    Undiagnosed Diseases Network, Apr 2 2020, In : American journal of human genetics. 106, 4, p. 570-583 14 p.

    Research output: Contribution to journalArticle