Stephan L Zuchner

Professor

  • 11061 Citations
19982020

Research output per year

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Research Output

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Letter
2019

Replication studies of MIR149 association in Charcot–Marie–Tooth disease type 1A in a European population

the Inherited Neuropathy Consortium, Feb 1 2019, In : Neuromuscular Disorders. 29, 2, p. 160-162 3 p.

Research output: Contribution to journalLetter

2018

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Shy, M., Rebelo, A. P., Feely, S. M., Abreu, L. A., Tao, F., Swenson, A., Bacon, C. & Zuchner, S. L., Mar 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 3, p. 313-316 4 p.

Research output: Contribution to journalLetter

7 Scopus citations
2017

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

Magariello, A., Russo, C., Citrigno, L., Zuchner, S. L., Patitucci, A., Mazzei, R., Conforti, F. L., Ferlazzo, E., Aguglia, U. & Muglia, M., Jan 15 2017, In : Journal of the Neurological Sciences. 372, p. 347-349 3 p.

Research output: Contribution to journalLetter

5 Scopus citations
2016

Community genetics: Genetics boosts US-Cuban links

Isasi, R., Zuchner, S. L. & Villafranca, R. C., Nov 16 2016, In : Nature. 539, 7629, p. 357 1 p.

Research output: Contribution to journalLetter

Multisystemic SYNE1 ataxia: Confirming the high frequency and extending the mutational and phenotypic spectrum

EOA Consortium, Aug 1 2016, In : Brain. 139, 8, p. e46

Research output: Contribution to journalLetter

17 Scopus citations

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene

Laššuthová, P., Šafka Brozková, D., Krutová, M., Mazanec, R., Züchner, S., Gonzalez, M. A. & Seeman, P., Apr 1 2016, In : Brain. 139, 4, p. e26

Research output: Contribution to journalLetter

12 Scopus citations
2015

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

Rossor, A. M., Oates, E. C., Salter, H. K., Liu, Y., Murphy, S. M., Schule, R., Gonzales, M. A., Scoto, M., Phadke, R., Sewry, C. A., Houlden, H., Jordanova, A., Tournev, I., Chamova, T., Litvinenko, I., Zuchner, S., Herrmann, D. N., Blake, J., Sowden, J. E., Acsadi, G. & 8 others, Rodriguez, M. L., Menezes, M. P., Clarke, N. F., Auer Grumbach, M., Bullock, S. L., Muntoni, F., Reilly, M. M. & North, K. N., Nov 2015, In : Brain. 138, 11, p. e392

Research output: Contribution to journalLetter

2014

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

Magariello, A., Citrigno, L., Zuchner, S., Gonzalez, M., Patitucci, A., Sofia, V., Conforti, F. L., Pappalardo, I., Mazzei, R., Ungaro, C., Zappia, M. & Muglia, M., Mar 1 2014, In : European Journal of Neurology. 21, 3, p. e25-e26

Research output: Contribution to journalLetter

9 Scopus citations
2010
1 Scopus citations
2009

Multiple rare SAPAP3 missense variants in trichotillomania and OCD

Züchner, S., Wendland, J. R., Ashley-Koch, A. E., Collins, A. L., Tran-Viet, K. N., Quinn, K., Timpano, K. C., Cuccaro, M. L., Pericak-Vance, M. A., Steffens, D. C., Krishnan, K. R., Feng, G. & Murphy, D. L., Jan 25 2009, In : Molecular psychiatry. 14, 1, p. 6-9 4 p.

Research output: Contribution to journalLetter

112 Scopus citations
2007

Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

Beetz, C., Zuchner, S., Ashley-Koch, A., Auer-Grumbach, M., Byrne, P., Chinnery, P. F., Hutchinson, M., McDermott, C. J., Meijer, I. A., Nygren, A. O. H., Pericak-Vance, M., Pyle, A., Rouleau, G. A., Schickel, J., Shaw, P. J. & Deufel, T., Jul 1 2007, In : Human mutation. 28, 7, p. 739-740 2 p.

Research output: Contribution to journalLetter

10 Scopus citations
2006

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

Züchner, S., Kail, M. E., Nance, M. A., Gaskell, P. C., Svenson, I. K., Marchuk, D. A., Pericak-Vance, M. A. & Ashley-Koch, A. E., May 1 2006, In : Neurogenetics. 7, 2, p. 127-129 3 p.

Research output: Contribution to journalLetter

17 Scopus citations

SLITRK1 mutations in trichotillomania [1]

Züchner, S., Cuccaro, M. L., Tran-Viet, K. N., Cope, H., Krishnan, R. R., Pericak-Vance, M. A., Wright, H. H. & Ashley-Koch, A., Oct 9 2006, In : Molecular psychiatry. 11, 10, p. 888-889 2 p.

Research output: Contribution to journalLetter

11 Scopus citations