Stephan L Zuchner

Professor

  • 11061 Citations
19982020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Comment/debate
2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN), Mar 3 2020, In : Neurology. 94, 9, p. e884-e896

Research output: Contribution to journalComment/debate

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (Nature Neuroscience, (2019), 22, 12, (1966-1974), 10.1038/s41593-019-0530-0)

ALSGENS Consortium, FALS Consortium, Project MinE Consortium & CReATe Consortium, Feb 1 2020, In : Nature Neuroscience. 23, 2, 1 p.

Research output: Contribution to journalComment/debate

Open Access
2019

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., Züchner, S., Reilly, M. M. & Houlden, H., May 1 2019, In : Nature genetics. 51, 5, 1 p.

Research output: Contribution to journalComment/debate

Open Access
2 Scopus citations

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

1 Scopus citations
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

2015

Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (The American Journal of Human Genetics (2014) 96 (689-697))

Synofzik, M., Haack, T. B., Kopajtich, R., Gorza, M., Rapaport, D., Greiner, M., Schönfeld, C., Freiberg, C., Schorr, S., Holl, R. W., Gonzalez, M. A., Fritsche, A., Fallier-Becker, P., Zimmermann, R., Strom, T. M., Meitinger, T., Züchner, S., Schüle, R., Schöls, L. & Prokisch, H., Mar 5 2015, In : American journal of human genetics. 96, 3, 1 p.

Research output: Contribution to journalComment/debate

2014

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

Mclaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G. & Antonellis, A., Apr 2014, In : Human mutation. 35, 4, p. 512 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations
2013

Correction: Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. (PLoS ONE)

Diaz-Horta, O., Duman, D., Foster, J., Sirmaci, A., Gonzalez, M., Mahdieh, N., Fotouhi, N., Bonyadi, M., Cengiz, F. B., Menendez, I., Ulloa, R. H., Edwards, Y. J. K., Zuc̈hner, S., Blanton, S. & Tekin, M., May 17 2013, In : PloS one. 8, 5

Research output: Contribution to journalComment/debate

2004

Erratum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (Nature Genetics (2004) 36 (327))

Züchner, S., Mersiyanova, I. V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., De Jonghe, P., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone, A., Polyakov, A. V., Timmerman, V., Schröder, J. M. & 2 others, Vance, J. M. & Battaloglu, E., Jun 1 2004, In : Nature genetics. 36, 6, 1 p.

Research output: Contribution to journalComment/debate

3 Scopus citations
2003

Erratum: A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease (Brain (April 2003) 26:4 (920-927))

Züchner, S., Sperfeld, A. D., Senderek, J., Sellhaus, B., Hanemann, C. O. & Schröder, J. M., Sep 1 2003, In : Brain. 126, 9, 1 p.

Research output: Contribution to journalComment/debate