Molecular Genetics and Metabolism
Displaying 1 - 5 of 5
Kaniganti, T., Gean-Akriv, G., Keidar, T., Levy-Shraga, Y., Debby, A., Grinberg, I., Polak-Charcon, S., Zarbib, Y. H., Yardeni, T., Ollech, A., Weiss, R., Venkataraman, L., Kaler, S. G., & Manor, J. (2025). Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant. Molecular Genetics and Metabolism, 144(4), 109056. https://doi.org/10.1016/j.ymgme.2025.109056
Publication Date
Columbia Affiliation
View
Goldstein, J., Thomas-Wilson, A., Groopman, E., Aggarwal, V., Bianconi, S., Fernandez, R., Hart, K., Longo, N., Liang, N., Reich, D., Wallis, H., Weaver, M., Young, S., & Mercimek-Andrews, S. (2024). ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. Molecular Genetics and Metabolism, 142(1), 108362. https://doi.org/10.1016/j.ymgme.2024.108362
Publication Date
Columbia Affiliation
Goldstein, O., Gana-Weisz, M., Banfi, S., Nigro, V., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., & Orr-Urtreger, A. (2023). Novel variants in genes related to vesicle-mediated-transport modify Parkinson’s disease risk. Molecular Genetics and Metabolism, 139(2), 107608. https://doi.org/10.1016/j.ymgme.2023.107608
Publication Date
Columbia Affiliation
Koch, R. L., Soler-Alfonso, C., Kiely, B. T., Asai, A., Smith, A. L., Bali, D. S., Kang, P. B., Landstrom, A. P., Akman, H. O., Burrow, T. A., Orthmann-Murphy, J. L., Goldman, D. S., Pendyal, S., El-Gharbawy, A. H., Austin, S. L., Case, L. E., Schiffmann, R., Hirano, M., & Kishnani, P. S. (2023). Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Molecular Genetics and Metabolism, 138(3), 107525. https://doi.org/10.1016/j.ymgme.2023.107525
Publication Date
Columbia Affiliation
View
Emmanuele, V., Ganesh, J., Vladutiu, G., Haas, R., Kerr, D., Saneto, R. P., Cohen, B. H., Van Hove, J. L. K., Scaglia, F., Hoppel, C., Rosales, X. Q., Barca, E., Buchsbaum, R., Thompson, J. L., DiMauro, S., & Hirano, M. (2022). Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Molecular Genetics and Metabolism, 136(2), 125–131. https://doi.org/10.1016/j.ymgme.2022.05.001
Publication Date
Columbia Affiliation