Stephan L Zuchner

Professor

  • 8740 Citations
19982021
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  • 17 Similar Profiles
Mutation Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences
Charcot-Marie-Tooth Disease Medicine & Life Sciences
Genes Medicine & Life Sciences
Exome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Tooth Medicine & Life Sciences
Peripheral Nervous System Diseases Medicine & Life Sciences

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Projects 2007 2021

Genome Studies in Hereditary Spastic Paraplegia

Zuchner, S. L.

National Institutes of Health

2/1/117/31/21

Project: Research projectResearch Project

Hereditary Spastic Paraplegia
Exome
Genome
Genes
Pedigree

Inherited Neurophathies Consortium (RDCRC)

Zuchner, S. L., Scherer, S. S., Muntoni, F. & Shy, M.

National Institutes of Health

9/30/098/31/19

Project: Research projectSpecialized Center--Cooperative Agreements

Genes
Peripheral Nervous System Diseases
Tooth
Charcot-Marie-Tooth Disease
Technology

Genomic Studies in Charcot-Marie-Tooth Disease

Zuchner, S. L. & Shy, M.

National Institutes of Health

5/1/121/31/18

Project: Research projectResearch Project

Charcot-Marie-Tooth Disease
Exome
Peripheral Nervous System Diseases
Genes
Technology
Hereditary Spastic Paraplegia
Molecular Biology
Genes
Research Personnel
Mutation

Research Output 1998 2018

1 Citations

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family

Dankwa, L., Richardson, J., Motley, W. W., Zuchner, S. L. & Scherer, S. S., Jan 1 2018, (Accepted/In press) In : Journal of the Peripheral Nervous System.

Research output: Contribution to journalArticle

Polyneuropathies
Phenotype
Mutation
2 Citations

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

Wilke, C., Baets, J., De Bleecker, J. L., Deconinck, T., Biskup, S., Hayer, S. N., Zuchner, S. L., Schüle, R., De Jonghe, P. & Synofzik, M., Feb 1 2018, In : Neurobiology of Aging. 62, p. 244.e9-244.e13

Research output: Contribution to journalArticle

Phosphotransferases
Phenotype
Mutation
Genes
Progressive Supranuclear Palsy
3 Citations

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

Mendoza-Ferreira, N., Coutelier, M., Janzen, E., Hosseinibarkooie, S., Löhr, H., Schneider, S., Milbradt, J., Karakaya, M., Riessland, M., Pichlo, C., Torres-Benito, L., Singleton, A., Zuchner, S. L., Brice, A., Durr, A., Hammerschmidt, M., Stevanin, G. & Wirth, B., Feb 1 2018, In : Neurology: Genetics. 4, 1, e209.

Research output: Contribution to journalArticle

Ataxia
Mutation
Cerebellar Ataxia
Zebrafish
Spastic Paraparesis
2 Citations

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Synofzik, M., Helbig, K. L., Harmuth, F., Deconinck, T., Tanpaiboon, P., Sun, B., Guo, W., Wang, R., Palmaer, E., Tang, S., Schaefer, G. B., Gburek-Augustat, J., Zuchner, S. L., Krägeloh-Mann, I., Baets, J., de Jonghe, P., Bauer, P., Chen, S. R. W., Schöls, L. & Schüle, R., Jun 20 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-12 12 p.

Research output: Contribution to journalArticle

Ataxia
Brain Diseases
HEK293 Cells
Computational Biology
Phenotype

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. L. & Shy, M., Apr 1 2018, In : Brain. 141, 4, e32.

Research output: Contribution to journalComment/debate

Charcot-Marie-Tooth Disease
Names
Copper
Mutation
Brain