Orphanet Journal of Rare Diseases
Displaying 1 - 12 of 12
Karaa, A., Bertini, E., Carelli, V., Cohen, B., Ennes, G. M., Falk, M. J., Goldstein, A., Gorman, G., Haas, R., Hirano, M., Klopstock, T., Koenig, M. K., Kornblum, C., Lamperti, C., Lehman, A., Longo, N., Molnar, M. J., Parikh, S., Phan, H., Pitceathly, R. D. S., … MMPOWER-3 Trial Investigators (2024). Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial. Orphanet journal of rare diseases, 19(1), 431. https://doi.org/10.1186/s13023-024-03421-5
Publication Date
Columbia Affiliation
Kanner, C. H., Uher, D., Zreibe, K., Beard, G., Patterson, M., Harris, M., Doerger, J., Calamia, S., Chung, W. K., & Montes, J. (2024). Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder. Orphanet Journal of Rare Diseases, 19(1). https://doi.org/10.1186/s13023-024-03067-3
Publication Date
Columbia Affiliation
Gentile, L., Coelho, T., Dispenzieri, A., Conceição, I., Waddington-Cruz, M., Kristen, A., Wixner, J., Diemberger, I., Gonzalez-Moreno, J., Cariou, E., Maurer, M. S., Planté-Bordeneuve, V., Garcia-Pavia, P., Tournev, I., Gonzalez-Costello, J., Duarte, A. G., Grogan, M., Mazzeo, A., … Chapman, D. (2023). A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS). Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02962-5
Publication Date
Columbia Affiliation
Chang, Y.-H., Kang, E. Y.-C., Liu, L., Jenny, L. A., Khang, R., Seo, G. H., Lee, H., Chen, K.-J., Wu, W.-C., Hsiao, M.-C., & Wang, N.-K. (2023). Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling. Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02748-9
Publication Date
Columbia Affiliation
Thompson, J. L. P., Karaa, A., Pham, H., Yeske, P., Krischer, J., Xiao, Y., Long, Y., Kramer, A., Dimmock, D., Holbert, A., Gorski, C., Engelstad, K. M., Buchsbaum, R., Rosales, X. Q., & Hirano, M. (2023). The evolution of the mitochondrial disease diagnostic odyssey. Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02754-x
Publication Date
Columbia Affiliation
Montes, J., Eichinger, K. J., Pasternak, A., Yochai, C., & Krosschell, K. J. (2022). A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-021-02165-w
Publication Date
Columbia Affiliation
Dispenzieri, A., Coelho, T., Conceição, I., Waddington-Cruz, M., Wixner, J., Kristen, A. V., Rapezzi, C., Planté-Bordeneuve, V., Gonzalez-Moreno, J., Maurer, M. S., Grogan, M., Chapman, D., Amass, L., Pavia, P. G., Tarnev, I., Costello, J. G., Briseno, M. A. G. D., Schmidt, H., … Zivkovic, S. (2022). Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02359-w
Publication Date
Columbia Affiliation
Oh, J. K., Vargas Del Valle, J. G., Lima de Carvalho, J. R., Sun, Y. J., Levi, S. R., Ryu, J., Yang, J., Nagasaki, T., Emanuelli, A., Rasool, N., Allikmets, R., Sparrow, J. R., Izquierdo, N. J., Duncan, J. L., Mahajan, V. B., & Tsang, S. H. (2022). Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02295-9
Publication Date
Columbia Affiliation
Attarian, S., Young, P., Brannagan, T. H., Adams, D., Van Damme, P., Thomas, F. P., Casanovas, C., Kafaie, J., Tard, C., Walter, M. C., Péréon, Y., Walk, D., Stino, A., de Visser, M., Verhamme, C., Amato, A., Carter, G., Magy, L., Statland, J. M., & Felice, K. (2021). A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-02040-8
Publication Date
Schräder, N. H. B., Gorell, E. S., Stewart, R. E., Duipmans, J. C., Harris, N., Perez, V. A., Tang, J. Y., Wolff, A. P., & Bolling, M. C. (2021). Cannabinoid use and effects in patients with epidermolysis bullosa: an international cross-sectional survey study. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-02010-0
Publication Date
DiMango, E., Simpson, K., Menten, E., Keating, C., Fan, W., & Leu, C.-S. (2021). Health Disparities among adults cared for at an urban cystic fibrosis program. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-01965-4
Publication Date
Columbia Affiliation
Domínguez-González, C., Madruga-Garrido, M., Hirano, M., Martí, I., Martín, M. A., Munell, F., Nascimento, A., Olivé, M., Quan, J., Sardina, M. D., Martí, R., & Paradas, C. (2021). Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-02030-w
Publication Date
Columbia Affiliation
View