Stephan L Zuchner

Professor

  • 11176 Citations
19982020

Research output per year

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Research Output

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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

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

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

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

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: Families with and without MFN2 mutations

Zhu, D., Kennerson, M. L., Walizada, G., Züchner, S., Vance, J. M. & Nicholson, G. A., Aug 9 2005, In : Neurology. 65, 3, p. 496-497 2 p.

Research output: Contribution to journalComment/debate

82 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., Jun 6 2019, In : American journal of human genetics. 104, 6, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

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

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

Open Access
1 Scopus citations

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

MOVR—NeuroMuscular ObserVational Research, a unified data hub for neuromuscular diseases

Howell, R. R. & Zuchner, S., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 536-538 3 p.

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