Stephan L Zuchner

Professor

  • 9838 Citations
19982023
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  • 15 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 2023

Rare Diseases
Minority Health
Population
Dominican Republic
Founder Effect
Hispanic Americans
Precision Medicine
Health
Research
Dominican Republic
Hereditary Spastic Paraplegia
Exome
Genome
Genes
Pedigree
Precision Medicine
Hispanic Americans
Health
Dominican Republic
Haiti
Charcot-Marie-Tooth Disease
Exome
Peripheral Nervous System Diseases
Genes
Technology

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 Citation (Scopus)

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

Research output: Contribution to journalComment/debate

Open Access
Ataxia
Names

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy

Horga, A., Bugiardini, E., Manole, A., Bremner, F., Jaunmuktane, Z., Dankwa, L., Rebelo, A. P., Woodward, C. E., Hargreaves, I. P., Cortese, A., Pittman, A. M., Brandner, S., Polke, J. M., Pitceathly, R. D. S., Zuchner, S. L., Hanna, M. G., Scherer, S. S., Houlden, H. & Reilly, M. M., Apr 1 2019, In : Neurology: Genetics. 5, 2, e322.

Research output: Contribution to journalArticle

Open Access
Peripheral Nervous System Diseases
Exome
Phenotype
Cataract
Mitochondria
9 Citations (Scopus)

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yan, Y. W., 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., Zuchner, S. L., Reilly, M. M. & Houlden, H., Apr 1 2019, In : Nature genetics. 51, 4, p. 649-658 10 p.

Research output: Contribution to journalArticle

Replication Protein C
Ataxia
Cerebellar Ataxia
Alleles
Genome