Stephan L Zuchner

Professor

  • 10477 Citations
1998 …2024
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Research Output 1998 2020

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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

Charcot-Marie-Tooth Disease
Population
2018
4 Citations (Scopus)

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

Charcot-Marie-Tooth Disease
Mutation
2017
5 Citations (Scopus)

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

DNA Mutational Analysis
Hereditary Spastic Paraplegia
Exome
Family Health
Mixed Function Oxygenases
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

Cuba
15 Citations (Scopus)

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

DNA Mutational Analysis
Cerebellar Ataxia
Ataxia
Phenotype
Mutation