Mario da Cunha Saporta

Assistant Professor of Clinical

  • 484 Citations
19982019
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Fingerprint Dive into the research topics where Mario da Cunha Saporta is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Charcot-Marie-Tooth Disease Medicine & Life Sciences
Schwann Cells Medicine & Life Sciences
Familial Amyloid Neuropathies Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences
Axons Medicine & Life Sciences
Prealbumin Medicine & Life Sciences

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Research Output 1998 2019

8 Citations (Scopus)

Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development

Juneja, M., Burns, J., da Cunha Saporta, M. & Timmerman, V., Jan 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 1, p. 58-67 10 p.

Research output: Contribution to journalArticle

Tooth
Mutation
Charcot-Marie-Tooth Disease
Genetic Heterogeneity
Therapeutics

Micromolded gelatin hydrogels crosslinked with laminin for disease on a chip applications

Besser, R., Maciel, R., Dvornik, M., Carbonero, D., Claure, I., Jones, E., Reda, J., da Cunha Saporta, M. & Agarwal, A., Jan 1 2019, Society for Biomaterials Annual Meeting and Exposition 2019: The Pinnacle of Biomaterials Innovation and Excellence - Transactions of the 42nd Annual Meeting. Society for Biomaterials, 1 p. (Transactions of the Annual Meeting of the Society for Biomaterials and the Annual International Biomaterials Symposium; vol. 40).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Hydrogels
Laminin
Gelatin
Proteins
Extracellular Matrix Proteins

Modifier gene candidates in charcot-marie-tooth disease type 1A: A case-only genome-wide association study

Tao, F., Beecham, G. W., Rebelo, A. P., Blanton, S. H., Moran, J. J., Lopez-Anido, C., Svaren, J., Abreu, L., Rizzo, D., Kirk, C. A., Wu, X., Feely, S., Verhamme, C., da Cunha Saporta, M., Herrmann, D. N., Day, J. W., Sumner, C. J., Lloyd, T. E., Li, J., Yum, S. W. & 8 others, Taroni, F., Baas, F., Choi, B. O., Pareyson, D., Scherer, S. S., Reilly, M. M., Shy, M. E. & Zuchner, S. L., Jan 1 2019, In : Journal of neuromuscular diseases. 6, 2, p. 201-211 11 p.

Research output: Contribution to journalArticle

Modifier Genes
Charcot-Marie-Tooth Disease
Genome-Wide Association Study
Single Nucleotide Polymorphism
Odds Ratio

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

Al-Tahan, S., Weiss, L., Yu, H., Tang, S., Saporta, M., Vihola, A., Mozaffar, T., Udd, B. & Kimonis, V., Aug 1 2019, In : Neurology: Genetics. 5, 4, 349.

Research output: Contribution to journalArticle

Open Access
Fibroblasts
Mutation
Distal Myopathies
Western Blotting
Immunohistochemistry

Pearls & Oy-sters: Hydroxychloroquine-induced toxic myopathy mimics Pompe disease: Critical role of genetic test

Shukla, S., Gultekin, S. H. & da Cunha Saporta, M., Feb 12 2019, In : Neurology. 92, 7, p. e742-e745

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Hydroxychloroquine
Poisons
Muscular Diseases