Stephan L Zuchner

Professor

  • 9012 Citations
19982021
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  • 14 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

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 project

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

Research Output 1998 2019

A network biology approach to unraveling inherited axonopathies

Bis-Brewer, D. M., Danzi, M. C., Wuchty, S. & Zuchner, S. L., Dec 1 2019, In : Scientific reports. 9, 1, 1692.

Research output: Contribution to journalArticle

Open Access
Hereditary Spastic Paraplegia
Tooth
Spinocerebellar Degenerations
Proteins
Spliceosomes

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

Dankwa, L., Richardson, J., Motley, W. W., Scavina, M., Courel, S., Bardakjian, T., Zuchner, S. L. & Scherer, S. S., Jan 1 2019, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Mutation
Electromyography
Denervation
Phenotype
Muscles
1 Citations (Scopus)

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 (Scopus)

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
Atrophy
3 Citations (Scopus)

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