Stephan L Zuchner

Professor

  • 10477 Citations
1998 …2024
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Research Output 1998 2020

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Comment/debate
2019
1 Citation (Scopus)

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia (Nature Genetics, (2019), 51, 4, (649-658), 10.1038/s41588-019-0372-4)

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., Tomaselli, P. J., Devigili, G., Callegari, I., Versino, M., Salpietro, V., Efthymiou, S., Kaski, D., Wood, N. W. & 10 others, Andrade, N. S., Buglo, E., Rebelo, A., Rossor, A. M., Bronstein, A., Fratta, P., Marques, W. J., Zuchner, S. L., Reilly, M. M. & Houlden, H., May 1 2019, In : Nature genetics. 51, 5, 1 p.

Research output: Contribution to journalComment/debate

Open Access
Ataxia
Names

Erratum: Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia (The American Journal of Human Genetics (2019)104(4)(767–773), (S0002929719300977), (10.1016/j.ajhg.2019.03.001))

Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintáns, B., Ordóñez-Ugalde, A., Cortese, A., Courel, S., Abreu, L., Powell, E., Danzi, M. C., Martuscelli, N. B., Bis-Brewer, D. M., Tao, F., Zarei, F., Habibzadeh, P. & 22 others, Yavarian, M., Modarresi, F., Silawi, M., Tabatabaei, Z., Yousefi, M., Farpour, H. R., Kessler, C., Mangold, E., Kobeleva, X., Tournev, I., Chamova, T., Mueller, A. J., Haack, T. B., Tarnopolsky, M., Gan-Or, Z., Rouleau, G. A., Synofzik, M., Sobrido, M. J., Jordanova, A., Schüle, R., Zuchner, S. & Faghihi, M. A., Jan 1 2019, In : American journal of human genetics.

Research output: Contribution to journalComment/debate

Hereditary Spastic Paraplegia
Medical Genetics
Names
Emotions
Mutation
2018

Erratum: SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency (Brain (2018) 141 (662-672) DOI: 10.1093/brain/awx369)

Rebelo, A., Dimah, S., Pereira, C., Farooq, A., Huff, T., Abreu, L., Moraes, C., Mnatsakanova, D., Mathews, K., Yang, H., Schon, E., Zuchner, S. & Shy, M., Apr 1 2018, In : Brain. 141, 4, e32.

Research output: Contribution to journalComment/debate

Charcot-Marie-Tooth Disease
Names
Copper
Mutation
Brain