Nervous System Malformations

Displaying 1 - 8 of 8CSV
Kaiyrzhanov, R., Rad, A., Lin, S.-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Karimiani, E. G., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T., … Maroofian, R. (2023). Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147(4), 1436–1456. https://doi.org/10.1093/brain/awad380
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Saffari, A., Lau, T., Tajsharghi, H., Karimiani, E. G., Kariminejad, A., Efthymiou, S., Zifarelli, G., Sultan, T., Toosi, M. B., Sedighzadeh, S., Siu, V. M., Ortigoza-Escobar, J. D., AlShamsi, A. M., Ibrahim, S., Al-Sannaa, N. A., Al-Hertani, W., Sandra, W., Tarnopolsky, M., Alavi, S., … Maroofian, R. (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146(8), 3273–3288. https://doi.org/10.1093/brain/awad039
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Brar, B. K., Thompson, M. G., Vora, N. L., Gilmore, K., Blakemore, K., Miller, K. A., Giordano, J., Dufke, A., Wong, B., Stover, S., Lianoglou, B., Van den Veyver, I., Dempsey, E., Rosner, M., Chong, K., Chitayat, D., Sparks, T. N., Norton, M. E., … Wapner, R. (2022). Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. Prenatal Diagnosis, 42(13), 1686–1693. Portico. https://doi.org/10.1002/pd.6269
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Lin, C. R., Viswanathan, A., Chen, T. X., Mitsumoto, H., Vonsattel, J. P., Faust, P. L., & Kuo, S. (2022). Clinicopathological correlates of pyramidal signs in multiple system atrophy. Annals of Clinical and Translational Neurology, 9(7), 988–994. Portico. https://doi.org/10.1002/acn3.51576
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Almannai, M., Marafi, D., Abdel‐Salam, G. M. H., Zaki, M. S., Duan, R., Calame, D., Herman, I., Levesque, F., Elbendary, H. M., Hegazy, I., Chung, W. K., Kavus, H., Saeidi, K., Maroofian, R., AlHashim, A., Al‐Otaibi, A., Al Madhi, A., Abou Al‐Seood, H. M., Alasmari, A., … El‐Hattab, A. W. (2022). El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clinical Genetics, 101(5–6), 530–540. Portico. https://doi.org/10.1111/cge.14132
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Baptiste, C., Mellis, R., Aggarwal, V., Lord, J., Eberhardt, R., Kilby, M. D., Maher, E. R., Wapner, R., Giordano, J., & Chitty, L. (2022). Fetal central nervous system anomalies: When should we offer exome sequencing? Prenatal Diagnosis, 42(6), 736–743. Portico. https://doi.org/10.1002/pd.6145
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Barish, S., Senturk, M., Schoch, K., Minogue, A. L., Lopergolo, D., Fallerini, C., Harland, J., Seemann, J. H., Stong, N., Kranz, P. G., Kansagra, S., Mikati, M. A., Jasien, J., El-Dairi, M., Galluzzi, P., Acosta, M. T., Adam, M., Adams, D. R., … Bellen, H. J. (2022). The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder. Human Molecular Genetics, 31(17), 2934–2950. https://doi.org/10.1093/hmg/ddac085
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Columbia Affiliation